I know I'll miss Group J
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Thursday, November 11, 2010
Wednesday, October 6, 2010
Causes of infertility
Other causes of infertility
For some couples attempting pregnancy, something goes wrong in this complex process, resulting in infertility. The cause or causes of infertility can involve one or both partners:
• In about 20 percent of cases, infertility is due to a cause involving only the male partner.
• In about 30 to 40 percent of cases, infertility is due to causes involving both the male and female.
• In the remaining 40 to 50 percent of cases, infertility is due entirely to a cause involving the female.
Combined infertility
In some cases, both the man and woman may be infertile or sub-fertile, and the couple's infertility arises from the combination of these conditions. In other cases, the cause is suspected to be immunological or genetic; it may be that each partner is independently fertile but the couple cannot conceive together without assistance.
Unexplained infertility
Up to 26% of infertile couples have unexplained infertility. In these cases abnormalities are likely to be present but not detected by current methods. Possible problems could be that the egg is not released at the optimum time for fertilization, that it may not enter the fallopian tube, sperm may not be able to reach the egg, fertilization may fail to occur, transport of the zygote may be disturbed, or implantation fails. It is increasingly recognized that egg quality is of critical importance and women of advanced maternal age have eggs of reduced capacity for normal and successful fertilization. Also, polymorphisms in folate pathway genes could be one reason for fertility complications in some women with unexplained infertility.
General health and lifestyle. General health and lifestyle may affect fertility. Some common causes of infertility related to health and lifestyle include:
• Emotional stress. Stress may interfere with certain hormones needed to produce sperm. Your sperm count may be affected if you experience excessive or prolonged emotional stress. A problem with fertility itself can sometimes become long term and discouraging, producing more stress.
• Malnutrition. Deficiencies in nutrients such as vitamin C, selenium, zinc and folate may contribute to infertility.
• Alcohol and drugs. Alcohol or drug dependency can be associated with poor health and reduced fertility. The use of certain drugs also can contribute to infertility. Anabolic steroids, for example, which are taken to stimulate muscle strength and growth, can cause the testicles to shrink and sperm production to decrease.
Environmental exposure. Overexposure to certain environmental elements such as heat, toxins and chemicals can reduce sperm count either directly by affecting testicular function or indirectly by altering the male hormonal system. Specific causes include:
• Pesticides and other chemicals. Herbicides and insecticides may cause female hormone-like effects in the male body and may be associated with reduced sperm production and testicular cancer. Lead exposure may also cause infertility.
• Overheating the testicles. Frequent use of saunas or hot tubs can elevate your core body temperature. This may impair your sperm production and lower your sperm count.
• Substance abuse. Use of cocaine or marijuana may temporarily reduce the number and quality of your sperm.
• Tobacco smoking. Men who smoke may have a lower sperm count than do those who don't smoke.
Environmental and occupational factors
Certain environmental factors may cause men to produce a less concentrated sperm, according to a government report. Exposure to lead, other heavy metals, and pesticides has also been associated with male infertility. Many other factors, such as excessive heat exposure, microwave radiation, ultrasound, and other health hazards, are more controversial as to whether they induce infertility.
Toxic effects related to tobacco, marijuana, and other drugs
Smoking may cause infertility in both men and women. In experimental animals, nicotine has been shown to block the production of sperm and decrease the size of a man's testicles. In women, tobacco changes the cervical mucus, thus affecting the way sperm reach the egg.
Marijuana may disrupt a woman's ovulation cycle (release of the egg). Marijuana use affects men by decreasing the sperm count and the quality of the sperm.
Heroin, cocaine, and crack cocaine use induces similar effects but places the user at increased risk for PID and HIV infection associated with risky sexual behavior.
In women, the effects of alcohol are related more to severe consequences for the fetus. Nevertheless, chronic alcoholism is related to disorders in ovulation and, therefore, interferes with fertility. Alcohol use by men interferes with the synthesis of testosterone and has an impact on sperm concentration. Alcoholism may delay a man's sexual response and may cause impotence (unable to have an erection).
Exercise
Exercise should be encouraged as part of normal activities. However, too much exercise is dangerous, especially for long-distance runners. For women, it may result in disruption of the ovulation cycle, cause no menstrual periods, or result in miscarriages (loss of pregnancy). In men, overexercise may cause a low sperm count.
Inadequate diet associated with extreme weight loss or gain
Obesity is becoming a major health issue in the United States. Obesity has an impact on infertility only when a woman's weight reaches extremes.
Weight loss with anorexia or bulimia can create problems with menstrual periods (no periods) and thyroid levels, thus disrupting normal ovulation.
• Caffeine intake. Studies are mixed on whether consuming too much caffeine may be associated with decreased fertility. Some studies have shown a decrease in fertility with increased caffeine use while others have not shown adverse effects. If there are effects, it's likely that caffeine has a greater impact on a woman's fertility than on a man's. High caffeine intake does appear to increase the risk of miscarriage.
Age
A woman becomes less fertile as she ages into her fifth decade of life (age 40-49 years). Among men, as they age, levels of testosterone fall, and the volume and concentration of sperm change.
Healthy couples younger than 30 years who have regular sexual intercourse and use no birth control methods have a 25-30% chance of achieving pregnancy each month. A woman's peak fertility is early in the third decade of life. As a woman ages beyond 35 years (and particularly after age 40 years), the likelihood of becoming pregnant is less than 10% per month.
For some couples attempting pregnancy, something goes wrong in this complex process, resulting in infertility. The cause or causes of infertility can involve one or both partners:
• In about 20 percent of cases, infertility is due to a cause involving only the male partner.
• In about 30 to 40 percent of cases, infertility is due to causes involving both the male and female.
• In the remaining 40 to 50 percent of cases, infertility is due entirely to a cause involving the female.
Combined infertility
In some cases, both the man and woman may be infertile or sub-fertile, and the couple's infertility arises from the combination of these conditions. In other cases, the cause is suspected to be immunological or genetic; it may be that each partner is independently fertile but the couple cannot conceive together without assistance.
Unexplained infertility
Up to 26% of infertile couples have unexplained infertility. In these cases abnormalities are likely to be present but not detected by current methods. Possible problems could be that the egg is not released at the optimum time for fertilization, that it may not enter the fallopian tube, sperm may not be able to reach the egg, fertilization may fail to occur, transport of the zygote may be disturbed, or implantation fails. It is increasingly recognized that egg quality is of critical importance and women of advanced maternal age have eggs of reduced capacity for normal and successful fertilization. Also, polymorphisms in folate pathway genes could be one reason for fertility complications in some women with unexplained infertility.
General health and lifestyle. General health and lifestyle may affect fertility. Some common causes of infertility related to health and lifestyle include:
• Emotional stress. Stress may interfere with certain hormones needed to produce sperm. Your sperm count may be affected if you experience excessive or prolonged emotional stress. A problem with fertility itself can sometimes become long term and discouraging, producing more stress.
• Malnutrition. Deficiencies in nutrients such as vitamin C, selenium, zinc and folate may contribute to infertility.
• Alcohol and drugs. Alcohol or drug dependency can be associated with poor health and reduced fertility. The use of certain drugs also can contribute to infertility. Anabolic steroids, for example, which are taken to stimulate muscle strength and growth, can cause the testicles to shrink and sperm production to decrease.
Environmental exposure. Overexposure to certain environmental elements such as heat, toxins and chemicals can reduce sperm count either directly by affecting testicular function or indirectly by altering the male hormonal system. Specific causes include:
• Pesticides and other chemicals. Herbicides and insecticides may cause female hormone-like effects in the male body and may be associated with reduced sperm production and testicular cancer. Lead exposure may also cause infertility.
• Overheating the testicles. Frequent use of saunas or hot tubs can elevate your core body temperature. This may impair your sperm production and lower your sperm count.
• Substance abuse. Use of cocaine or marijuana may temporarily reduce the number and quality of your sperm.
• Tobacco smoking. Men who smoke may have a lower sperm count than do those who don't smoke.
Environmental and occupational factors
Certain environmental factors may cause men to produce a less concentrated sperm, according to a government report. Exposure to lead, other heavy metals, and pesticides has also been associated with male infertility. Many other factors, such as excessive heat exposure, microwave radiation, ultrasound, and other health hazards, are more controversial as to whether they induce infertility.
Toxic effects related to tobacco, marijuana, and other drugs
Smoking may cause infertility in both men and women. In experimental animals, nicotine has been shown to block the production of sperm and decrease the size of a man's testicles. In women, tobacco changes the cervical mucus, thus affecting the way sperm reach the egg.
Marijuana may disrupt a woman's ovulation cycle (release of the egg). Marijuana use affects men by decreasing the sperm count and the quality of the sperm.
Heroin, cocaine, and crack cocaine use induces similar effects but places the user at increased risk for PID and HIV infection associated with risky sexual behavior.
In women, the effects of alcohol are related more to severe consequences for the fetus. Nevertheless, chronic alcoholism is related to disorders in ovulation and, therefore, interferes with fertility. Alcohol use by men interferes with the synthesis of testosterone and has an impact on sperm concentration. Alcoholism may delay a man's sexual response and may cause impotence (unable to have an erection).
Exercise
Exercise should be encouraged as part of normal activities. However, too much exercise is dangerous, especially for long-distance runners. For women, it may result in disruption of the ovulation cycle, cause no menstrual periods, or result in miscarriages (loss of pregnancy). In men, overexercise may cause a low sperm count.
Inadequate diet associated with extreme weight loss or gain
Obesity is becoming a major health issue in the United States. Obesity has an impact on infertility only when a woman's weight reaches extremes.
Weight loss with anorexia or bulimia can create problems with menstrual periods (no periods) and thyroid levels, thus disrupting normal ovulation.
• Caffeine intake. Studies are mixed on whether consuming too much caffeine may be associated with decreased fertility. Some studies have shown a decrease in fertility with increased caffeine use while others have not shown adverse effects. If there are effects, it's likely that caffeine has a greater impact on a woman's fertility than on a man's. High caffeine intake does appear to increase the risk of miscarriage.
Age
A woman becomes less fertile as she ages into her fifth decade of life (age 40-49 years). Among men, as they age, levels of testosterone fall, and the volume and concentration of sperm change.
Healthy couples younger than 30 years who have regular sexual intercourse and use no birth control methods have a 25-30% chance of achieving pregnancy each month. A woman's peak fertility is early in the third decade of life. As a woman ages beyond 35 years (and particularly after age 40 years), the likelihood of becoming pregnant is less than 10% per month.
Female Infertility Causes
Causes of Failure to Ovulate
Ovulatory disorders are one of the most common reasons why women are unable to conceive, and account for 30% of women's infertility. Fortunately, approximately 70% of these cases can be successfully treated by the use of drugs such as Clomiphene and Menogan/Repronex. The causes of failed ovulation can be categorized as follows:
(1) Hormonal Problems
• Failure to produce mature eggs
In approximately 50% of the cases of anovulation, the ovaries do not produce normal follicles inwhich the eggs can mature. Ovulation is rare if the eggs are immature and the chance of fertilization becomes almost nonexistent. Polycystic ovary syndrome, the most common disorder responsible for this problem, includes symptoms such as amenorrhoea, hirsutism, anovulation and infertility. This syndrome is characterized by a reduced production of FSH, and normal or increased levels of LH, oestrogen and testosterone. The current hypothesis is that the suppression of FSH associated with this condition causes only partial development of ovarian follicles, and follicular cysts can be detected in an ultrasound scan. The affected ovary often becomes surrounded with a smooth white capsule and is double its normal size. The increased level of oestrogen raises the risk of breast cancer.
• Malfunction of the hypothalamus
The hypothalamus is the portion of the brain responsible for sending signals to the pituitary gland, which, in turn, sends hormonal stimuli to the ovaries in the form of FSH and LH to initiate egg maturation. If the hypothalamus fails to trigger and control this process, immature eggs will result. This is the cause of ovarian failure in 20% of cases.
• Malfunction of the pituitary gland
The pituitary's responsibility lies in producing and secreting FSH and LH. The ovaries will be unable to ovulate properly if either too much or too little of these substances is produced. This can occur due to physical injury, a tumor or if there is a chemical imbalance in the pituitary.
(2) Scarred Ovaries
Physical damage to the ovaries may result in failed ovulation. Eg. extensive, invasive, or multiple surgeries, for repeated ovarian cysts may cause the capsule of the ovary to become damaged or scarred, such that follicles cannot mature properly and ovulation does not occur. Infection may also have this impact.
(3) Premature Menopause
This presents a rare and as of yet unexplainable cause of anovulation. It is hypothesized that their natural supply of eggs has been depleted or that the majority of cases occur in extremely athletic women with a long history of low body weight and extensive exercise. There is also a genetic possibility for this condition.
(4) Follicle Problems
Although currently unexplained, "unruptured follicle syndrome" occurs in women who produce a normal follicle, with an egg inside of it every month yet the follicle fails to rupture.
Causes of Poorly Functioning Fallopian Tubes
Tubal disease affects approximately 25% of infertile couples and varies widely, ranging from mild adhesions to complete tubal blockage. Treatment for tubal disease is most commonly surgery and, owing to the advances in microsurgery and lasers, success rates (defined as the number of women who become pregnant within one year of surgery) are as high as 30% overall, with certain procedures having success rates up to 65%. The main causes of tubal damage include:
(1) Infection
Caused by both bacteria and viruses and usually transmitted sexually, these infections commonly cause inflammation resulting in scarring and damage. A specific example is Hydrosalpnix, a condition in which the fallopian tube is occluded at both ends and fluid collects in the tube.
(2) Abdominal Diseases
The most common of these are appendicitis and colitis, causing inflammation of the abdominal cavity which can affect the fallopian tubes and lead to scarring and blockage.
(3) Previous Surgeries
This is an important cause of tubal disease and damage. Pelvic or abdominal surgery can result in adhesions that alter the tubes in such a way that eggs cannot travel through them.
(4) Ectopic Pregnancy
This is a pregnancy that occurs in the tube itself and, even if carefully and successfully overcome, may cause tubal damage.
(5) Congenital Defects
In rare cases, women may be born with tubal abnormalities, usually associated with uterus irregularities.
Endometriosis
For women with endometriosis, the monthly fecundity (chance of getting pregnant) diminishes by 12 to 36%. This condition is characterized by excessive growth of the lining of the uterus, called the endometrium. Growth occurs not only in the uterus but also elsewhere in the abdomen, such as in the fallopian tubes, ovaries and the pelvic peritoneum. A positive diagnosis can only be made by diagnostic laparoscopy, a test that allows the physician to view the uterus, fallopian tubes, and pelvic cavity directly. The symptoms often associated with endometriosis include heavy, painful and long menstrual periods, urinary urgency, rectal bleeding and premenstrual spotting. Sometimes, however, there are no symptoms at all, owing to the fact that there is no correlation between the extent of the disease and the severity of the symptoms.
Additional Factors
(1) Other variables that may cause infertility in women:
• At least 10% of all cases of female infertility are caused by an abnormal uterus. Conditions such as fibroid, polyps, and adenomyosis may lead to obstruction of the uterus and Fallopian tubes.
• Congenital abnormalities, such as septate uterus, may lead to recurrent miscarriages or the inability to conceive.
• Approximately 3% of couples face infertility due to problems with the female cervical mucus. The mucus needs to be of a certain consistency and available in adequate amounts for sperm to swim easily within it. The most common reason for abnormal cervical mucus is a hormone imbalance (too little estrogen or too much progesterone)
(2) Behavioral Factors:
Diet and Exercise
Optimal reproductive functioning requires both proper diet and appropriate levels of exercise. Women who are significantly overweight or underweight may have difficulty becoming pregnant.
Smoking
Cigarette smoking has been shown to lower sperm counts in men and increases the risk of miscarriage, premature birth, and low-birth-weight babies for women. Smoking by either partner reduces the chance of conceiving with each cycle, either naturally or by IVF, by one-third.
Alcohol
Alcohol intake greatly increases the risk of birth defects for women and, if in high enough levels in the mother’s blood, may cause Fetal Alcohol Syndrome. Alcohol also affects sperm counts in men.
Drugs
Drugs, such as marijuana and anabolic steroids, may impact sperm counts in men. Cocaine use in pregnant women may cause severe retardations and kidney problems in the baby and is perhaps the worst possible drug to abuse while pregnant.
(3) Environmental and Occupational Factors:
Lead: Lead can produce teratospermias (abnormal sperm) and is thought to be an abortifacient
Medical Treatments and Materials: radiation therapy
Ethylene Oxide: may cause birth defects in early pregnancy and has the potential to provoke early miscarriage.
Dibromochloropropane (DBCP): Handling the chemicals found in pesticides, such as DBCP, can cause ovarian problems, leading to a variety of health conditions, like early menopause, that may directly impact fertility.
Ovulatory disorders are one of the most common reasons why women are unable to conceive, and account for 30% of women's infertility. Fortunately, approximately 70% of these cases can be successfully treated by the use of drugs such as Clomiphene and Menogan/Repronex. The causes of failed ovulation can be categorized as follows:
(1) Hormonal Problems
• Failure to produce mature eggs
In approximately 50% of the cases of anovulation, the ovaries do not produce normal follicles inwhich the eggs can mature. Ovulation is rare if the eggs are immature and the chance of fertilization becomes almost nonexistent. Polycystic ovary syndrome, the most common disorder responsible for this problem, includes symptoms such as amenorrhoea, hirsutism, anovulation and infertility. This syndrome is characterized by a reduced production of FSH, and normal or increased levels of LH, oestrogen and testosterone. The current hypothesis is that the suppression of FSH associated with this condition causes only partial development of ovarian follicles, and follicular cysts can be detected in an ultrasound scan. The affected ovary often becomes surrounded with a smooth white capsule and is double its normal size. The increased level of oestrogen raises the risk of breast cancer.
• Malfunction of the hypothalamus
The hypothalamus is the portion of the brain responsible for sending signals to the pituitary gland, which, in turn, sends hormonal stimuli to the ovaries in the form of FSH and LH to initiate egg maturation. If the hypothalamus fails to trigger and control this process, immature eggs will result. This is the cause of ovarian failure in 20% of cases.
• Malfunction of the pituitary gland
The pituitary's responsibility lies in producing and secreting FSH and LH. The ovaries will be unable to ovulate properly if either too much or too little of these substances is produced. This can occur due to physical injury, a tumor or if there is a chemical imbalance in the pituitary.
(2) Scarred Ovaries
Physical damage to the ovaries may result in failed ovulation. Eg. extensive, invasive, or multiple surgeries, for repeated ovarian cysts may cause the capsule of the ovary to become damaged or scarred, such that follicles cannot mature properly and ovulation does not occur. Infection may also have this impact.
(3) Premature Menopause
This presents a rare and as of yet unexplainable cause of anovulation. It is hypothesized that their natural supply of eggs has been depleted or that the majority of cases occur in extremely athletic women with a long history of low body weight and extensive exercise. There is also a genetic possibility for this condition.
(4) Follicle Problems
Although currently unexplained, "unruptured follicle syndrome" occurs in women who produce a normal follicle, with an egg inside of it every month yet the follicle fails to rupture.
Causes of Poorly Functioning Fallopian Tubes
Tubal disease affects approximately 25% of infertile couples and varies widely, ranging from mild adhesions to complete tubal blockage. Treatment for tubal disease is most commonly surgery and, owing to the advances in microsurgery and lasers, success rates (defined as the number of women who become pregnant within one year of surgery) are as high as 30% overall, with certain procedures having success rates up to 65%. The main causes of tubal damage include:
(1) Infection
Caused by both bacteria and viruses and usually transmitted sexually, these infections commonly cause inflammation resulting in scarring and damage. A specific example is Hydrosalpnix, a condition in which the fallopian tube is occluded at both ends and fluid collects in the tube.
(2) Abdominal Diseases
The most common of these are appendicitis and colitis, causing inflammation of the abdominal cavity which can affect the fallopian tubes and lead to scarring and blockage.
(3) Previous Surgeries
This is an important cause of tubal disease and damage. Pelvic or abdominal surgery can result in adhesions that alter the tubes in such a way that eggs cannot travel through them.
(4) Ectopic Pregnancy
This is a pregnancy that occurs in the tube itself and, even if carefully and successfully overcome, may cause tubal damage.
(5) Congenital Defects
In rare cases, women may be born with tubal abnormalities, usually associated with uterus irregularities.
Endometriosis
For women with endometriosis, the monthly fecundity (chance of getting pregnant) diminishes by 12 to 36%. This condition is characterized by excessive growth of the lining of the uterus, called the endometrium. Growth occurs not only in the uterus but also elsewhere in the abdomen, such as in the fallopian tubes, ovaries and the pelvic peritoneum. A positive diagnosis can only be made by diagnostic laparoscopy, a test that allows the physician to view the uterus, fallopian tubes, and pelvic cavity directly. The symptoms often associated with endometriosis include heavy, painful and long menstrual periods, urinary urgency, rectal bleeding and premenstrual spotting. Sometimes, however, there are no symptoms at all, owing to the fact that there is no correlation between the extent of the disease and the severity of the symptoms.
Additional Factors
(1) Other variables that may cause infertility in women:
• At least 10% of all cases of female infertility are caused by an abnormal uterus. Conditions such as fibroid, polyps, and adenomyosis may lead to obstruction of the uterus and Fallopian tubes.
• Congenital abnormalities, such as septate uterus, may lead to recurrent miscarriages or the inability to conceive.
• Approximately 3% of couples face infertility due to problems with the female cervical mucus. The mucus needs to be of a certain consistency and available in adequate amounts for sperm to swim easily within it. The most common reason for abnormal cervical mucus is a hormone imbalance (too little estrogen or too much progesterone)
(2) Behavioral Factors:
Diet and Exercise
Optimal reproductive functioning requires both proper diet and appropriate levels of exercise. Women who are significantly overweight or underweight may have difficulty becoming pregnant.
Smoking
Cigarette smoking has been shown to lower sperm counts in men and increases the risk of miscarriage, premature birth, and low-birth-weight babies for women. Smoking by either partner reduces the chance of conceiving with each cycle, either naturally or by IVF, by one-third.
Alcohol
Alcohol intake greatly increases the risk of birth defects for women and, if in high enough levels in the mother’s blood, may cause Fetal Alcohol Syndrome. Alcohol also affects sperm counts in men.
Drugs
Drugs, such as marijuana and anabolic steroids, may impact sperm counts in men. Cocaine use in pregnant women may cause severe retardations and kidney problems in the baby and is perhaps the worst possible drug to abuse while pregnant.
(3) Environmental and Occupational Factors:
Lead: Lead can produce teratospermias (abnormal sperm) and is thought to be an abortifacient
Medical Treatments and Materials: radiation therapy
Ethylene Oxide: may cause birth defects in early pregnancy and has the potential to provoke early miscarriage.
Dibromochloropropane (DBCP): Handling the chemicals found in pesticides, such as DBCP, can cause ovarian problems, leading to a variety of health conditions, like early menopause, that may directly impact fertility.
Wednesday, September 29, 2010
Kline and turn
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis”) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.
Occurring in 1 out of every 2500 girls,
There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks
Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.[4] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas
Common symptoms of Turner syndrome include:
• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
• Amenorrhoea, or the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV
• Small fingernails
• Characteristic facial features
• Webbed neck from cystic hygroma in infancy
• Coarctation of the aorta
• Bicuspid aortic valve
• Poor breast development
• Horseshoe kidney
• Visual impairments sclera, cornea, glaucoma, etc.
• Ear infections and hearing loss
• High waist-to-hip ratio (the hips are not much bigger than the waist)
• Attention Deficit/Hyperactivity Disorder (problems with concentration, memory and attention)
• Nonverbal Learning Disability (problems with math, social skills and spatial relations)
Women with Turner syndrome are almost universally infertile. While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45,X.[18][19] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner Syndrome or Down Syndrome.[20] Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.[21]
Klinefelter's syndrome
Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome.[1] Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".[2]
In humans, Klinefelter's syndrome is the most common sex chromosome disorder[3
The condition exists in roughly 1 out of every 1,000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.[4] Other mammals also have the XXY syndrome, including mice
The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.
Affected males are almost always effectively infertile, although advanced reproductive assistance is sometimes possible.
The term hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis".
Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature.[20]
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis”) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.
Occurring in 1 out of every 2500 girls,
There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks
Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.[4] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas
Common symptoms of Turner syndrome include:
• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
• Amenorrhoea, or the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV
• Small fingernails
• Characteristic facial features
• Webbed neck from cystic hygroma in infancy
• Coarctation of the aorta
• Bicuspid aortic valve
• Poor breast development
• Horseshoe kidney
• Visual impairments sclera, cornea, glaucoma, etc.
• Ear infections and hearing loss
• High waist-to-hip ratio (the hips are not much bigger than the waist)
• Attention Deficit/Hyperactivity Disorder (problems with concentration, memory and attention)
• Nonverbal Learning Disability (problems with math, social skills and spatial relations)
Women with Turner syndrome are almost universally infertile. While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45,X.[18][19] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner Syndrome or Down Syndrome.[20] Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.[21]
Klinefelter's syndrome
Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome.[1] Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".[2]
In humans, Klinefelter's syndrome is the most common sex chromosome disorder[3
The condition exists in roughly 1 out of every 1,000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.[4] Other mammals also have the XXY syndrome, including mice
The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.
Affected males are almost always effectively infertile, although advanced reproductive assistance is sometimes possible.
The term hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis".
Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature.[20]
Wednesday, September 22, 2010
Treatment of hyperthyroidism
The options for treating hyperthyroidism include:
Temporary treatments
• Treating the symptoms
• Antithyroid drugs (Thyrostatics)
Permanent Treatments
• Radioactive iodine
• Surgery treating symptoms
Temporary Treatments
Treating the symptoms
Many of the neurologic and cardiovascular symptoms of thyrotoxicosis are relieved by beta-blocker therapy [propranolol (Inderal), atenolol (Tenormin), metoprolol (Lopressor)]. These medications counteract the effect of thyroid hormone to increase metabolism, but they do not alter the levels of thyroid hormones in the blood. A doctor determines which patients to treat based on a number of variables including the underlying cause of hyperthyroidism, the age of the patient, the size of the thyroid gland, and the presence of coexisting medical illnesses.
Thyrostatics (Antithyroid drugs)
There are two main antithyroid drugs available for use in the US, methimazole (Tapazole) and propylthiouracil (PTU). These drugs accumulate in the thyroid tissue and block production of thyroid hormones. PTU also blocks the conversion of T4(thyroxine) hormone to the more metabolically active T3(triiodothyoinine) hormone. The major risk of these medications is occasional suppression of production of white blood cells by the bone marrow (agranulocytosis).
It is important for patients to know that if they develop a fever, a sore throat, or any signs of infection while taking methimazole or propylthiouracil, they should see a doctor immediately. While a concern, the actual risk of developing agranulocytosis is less than 1%. In general, patients should be seen by the doctor at monthly intervals while taking antithyroid medication. The dose is adjusted to maintain the patient in as close to a normal thyroid state as possible (euthyroid). Once the dosing is stable, patients can be seen at three month intervals if long-term therapy is planned.
Usually, long-term antithyroid therapy is only used for patients with Graves' disease, since this disease may actually go into remission under treatment without requiring treatment with thyroid radiation or surgery. If treated from one to two years, the data shows remission rates of 40%-70%. When the disease is in remission, the gland is no longer overactive, and antithyroid medication is not needed.
Recent studies also have shown that adding a pill of thyroid hormone to the antithyroid medication actually results in higher remission rates. The rationale for this may be that by providing an external source for thyroid hormone, higher doses of antithyroid medications can be given, which may suppress the overactive immune system in persons with Graves' disease. This type of therapy remains controversial, however. When long-term therapy is withdrawn, patients should continue to be seen by the doctor every three months for the first year, since a relapse of Graves' disease is most likely in this time period. If a patient does relapse, antithyroid drug therapy can be restarted, or radioactive iodine or surgery may be considered.
Permanent treatments
Surgery as an option predates the use of the less invasive radioisotope therapy (radioiodine 131 thyroid ablation), but is still required in cases where the thyroid gland is enlarged and causing compression to the neck structures, or the underlying cause of the hyperthyroidism may be cancerous in origin. Some patients suffering from the related condition of thyroid eye disease leading to diplopia because this condition can be worsened by radiotherapy treatment.
Radioactive Iodine
Radioactive iodine is given orally (either by pill or liquid) on a one-time basis to ablate a hyperactive gland. The iodine given for ablative treatment is different from the iodine used in a scan. (For treatment, the isotope iodine 131 is used, while for a routine scan, iodine 123 is used.) Radioactive iodine is given after a routine iodine scan, and uptake of the iodine is determined to confirm hyperthyroidism. The radioactive iodine is picked up by the active cells in the thyroid and destroys them. Since iodine is only picked up by thyroid cells, the destruction is local, and there are no widespread side effects with this therapy.
Radioactive iodine ablation has been safely used for over 50 years, and the only major reasons for not using it are pregnancy and breast-feeding. This form of therapy is the treatment of choice for recurring Graves' disease, patients with severe cardiac involvement, those with multinodular goiter or toxic adenomas, and patients who cannot tolerate antithyroid drugs. Radioactive iodine must be used with caution in patients with Graves' related eye disease since recent studies have shown that the eye disease may worsen after therapy. If a woman chooses to become pregnant after ablation, it is recommended she wait 8-12 months after treatment before conceiving.
In general, more than 80% of patients are cured with a single dose of radioactive iodine. It takes between 8 to 12 weeks for the thyroid to become normal after therapy. Permanent hypothyroidism is the major complication of this form of treatment. While a temporary hypothyroid state may be seen up to six months after treatment with radioactive iodine, if it persists longer than six months, thyroid replacement therapy (with T4 or T3) usually is begun.
Surgery
Surgery to partially remove the thyroid gland (partial thyroidectomy) was once a common form of treatment for hyperthyroidism. The goal is to remove the thyroid tissue that was producing the excessive thyroid hormone. However, if too much tissue is removed, an inadequate production of thyroid hormone (hypothyroidism) may result. In this case, thyroid replacement therapy is begun. The major complication of surgery is disruption of the surrounding tissue, including the nerves supplying the vocal cords and the four tiny glands in the neck that regulate calcium levels in the body (the parathyroid glands). Accidental removal of these glands may result in low calcium levels and require calcium replacement therapy.
With the introduction of radioactive iodine therapy and antithyroid drugs, surgery for hyperthyroidism is not as common as it used to be. Surgery is appropriate for:
• pregnant patients and children who have major adverse reactions to antithyroid medications.
• patients with very large thyroid glands and in those who have symptoms stemming from compression of tissues adjacent to the thyroid, such as difficulty swallowing, hoarseness, and shortness of breath.
Subtotal thyroidectomy is the oldest form of treatment for hyperthyroidism. Total thyroidectomy and combinations of hemithyroidectomies and contralateral subtotal thyroidectomies also have been used.
• Because of excellent effectiveness in regulating thyroid function with antithyroid medications and radioactive iodine, thyroidectomy is reserved for special circumstances, including the following:
o Severe hyperthyroidism in children
o Pregnant women who are noncompliant or intolerant of antithyroid medication
o Patients with very large goiters or severe ophthalmopathy
o Patients who refuse radioactive iodine therapy
o Refractory amiodarone-induced hyperthyroidism
o Patients who require normalization of thyroid functions quickly, such as pregnant women, women who desire pregnancy in the next 6 months, or patients with unstable cardiac conditions
• With current operative techniques, bilateral subtotal thyroidectomy should have a mortality rate approaching zero in patients who are properly prepared. Historically, the most common cause of thyroid storm, a physiologic decompensation in patients who are severely thyrotoxic, with a mortality rate of 50-100%, is operative stress.
• Preoperative preparation includes antithyroid medication, stable (cold) iodine treatment (to decrease gland vascularity), and beta-blocker therapy.5
o Generally, antithyroid drug therapy should be administered until thyroid functions normalize (4-8 wk).
o Titrate propranolol until the resting pulse rate is less than 80 bpm.
o Finally, administer iodide as SSKI (1-2 drops bid for 10-14 d) before surgery.
o An additional benefit from stable iodide therapy, besides the reduction in thyroid hormone excretion, is a demonstrated decrease in thyroid blood flow and possible reduction in blood loss during surgery.
• Adverse effects of therapy include recurrent laryngeal nerve damage and hypoparathyroidism due to damage of local structures during surgery. (A Swiss study indicated that a single dose of steroid administered prior to thyroidectomy can reduce nausea, pain, and vomiting associated with the procedure, as well as improve voice function.
*Ablation means removal of material from the surface of an object by vaporization, chipping, or other erosive processes.
Temporary treatments
• Treating the symptoms
• Antithyroid drugs (Thyrostatics)
Permanent Treatments
• Radioactive iodine
• Surgery treating symptoms
Temporary Treatments
Treating the symptoms
Many of the neurologic and cardiovascular symptoms of thyrotoxicosis are relieved by beta-blocker therapy [propranolol (Inderal), atenolol (Tenormin), metoprolol (Lopressor)]. These medications counteract the effect of thyroid hormone to increase metabolism, but they do not alter the levels of thyroid hormones in the blood. A doctor determines which patients to treat based on a number of variables including the underlying cause of hyperthyroidism, the age of the patient, the size of the thyroid gland, and the presence of coexisting medical illnesses.
Thyrostatics (Antithyroid drugs)
There are two main antithyroid drugs available for use in the US, methimazole (Tapazole) and propylthiouracil (PTU). These drugs accumulate in the thyroid tissue and block production of thyroid hormones. PTU also blocks the conversion of T4(thyroxine) hormone to the more metabolically active T3(triiodothyoinine) hormone. The major risk of these medications is occasional suppression of production of white blood cells by the bone marrow (agranulocytosis).
It is important for patients to know that if they develop a fever, a sore throat, or any signs of infection while taking methimazole or propylthiouracil, they should see a doctor immediately. While a concern, the actual risk of developing agranulocytosis is less than 1%. In general, patients should be seen by the doctor at monthly intervals while taking antithyroid medication. The dose is adjusted to maintain the patient in as close to a normal thyroid state as possible (euthyroid). Once the dosing is stable, patients can be seen at three month intervals if long-term therapy is planned.
Usually, long-term antithyroid therapy is only used for patients with Graves' disease, since this disease may actually go into remission under treatment without requiring treatment with thyroid radiation or surgery. If treated from one to two years, the data shows remission rates of 40%-70%. When the disease is in remission, the gland is no longer overactive, and antithyroid medication is not needed.
Recent studies also have shown that adding a pill of thyroid hormone to the antithyroid medication actually results in higher remission rates. The rationale for this may be that by providing an external source for thyroid hormone, higher doses of antithyroid medications can be given, which may suppress the overactive immune system in persons with Graves' disease. This type of therapy remains controversial, however. When long-term therapy is withdrawn, patients should continue to be seen by the doctor every three months for the first year, since a relapse of Graves' disease is most likely in this time period. If a patient does relapse, antithyroid drug therapy can be restarted, or radioactive iodine or surgery may be considered.
Permanent treatments
Surgery as an option predates the use of the less invasive radioisotope therapy (radioiodine 131 thyroid ablation), but is still required in cases where the thyroid gland is enlarged and causing compression to the neck structures, or the underlying cause of the hyperthyroidism may be cancerous in origin. Some patients suffering from the related condition of thyroid eye disease leading to diplopia because this condition can be worsened by radiotherapy treatment.
Radioactive Iodine
Radioactive iodine is given orally (either by pill or liquid) on a one-time basis to ablate a hyperactive gland. The iodine given for ablative treatment is different from the iodine used in a scan. (For treatment, the isotope iodine 131 is used, while for a routine scan, iodine 123 is used.) Radioactive iodine is given after a routine iodine scan, and uptake of the iodine is determined to confirm hyperthyroidism. The radioactive iodine is picked up by the active cells in the thyroid and destroys them. Since iodine is only picked up by thyroid cells, the destruction is local, and there are no widespread side effects with this therapy.
Radioactive iodine ablation has been safely used for over 50 years, and the only major reasons for not using it are pregnancy and breast-feeding. This form of therapy is the treatment of choice for recurring Graves' disease, patients with severe cardiac involvement, those with multinodular goiter or toxic adenomas, and patients who cannot tolerate antithyroid drugs. Radioactive iodine must be used with caution in patients with Graves' related eye disease since recent studies have shown that the eye disease may worsen after therapy. If a woman chooses to become pregnant after ablation, it is recommended she wait 8-12 months after treatment before conceiving.
In general, more than 80% of patients are cured with a single dose of radioactive iodine. It takes between 8 to 12 weeks for the thyroid to become normal after therapy. Permanent hypothyroidism is the major complication of this form of treatment. While a temporary hypothyroid state may be seen up to six months after treatment with radioactive iodine, if it persists longer than six months, thyroid replacement therapy (with T4 or T3) usually is begun.
Surgery
Surgery to partially remove the thyroid gland (partial thyroidectomy) was once a common form of treatment for hyperthyroidism. The goal is to remove the thyroid tissue that was producing the excessive thyroid hormone. However, if too much tissue is removed, an inadequate production of thyroid hormone (hypothyroidism) may result. In this case, thyroid replacement therapy is begun. The major complication of surgery is disruption of the surrounding tissue, including the nerves supplying the vocal cords and the four tiny glands in the neck that regulate calcium levels in the body (the parathyroid glands). Accidental removal of these glands may result in low calcium levels and require calcium replacement therapy.
With the introduction of radioactive iodine therapy and antithyroid drugs, surgery for hyperthyroidism is not as common as it used to be. Surgery is appropriate for:
• pregnant patients and children who have major adverse reactions to antithyroid medications.
• patients with very large thyroid glands and in those who have symptoms stemming from compression of tissues adjacent to the thyroid, such as difficulty swallowing, hoarseness, and shortness of breath.
Subtotal thyroidectomy is the oldest form of treatment for hyperthyroidism. Total thyroidectomy and combinations of hemithyroidectomies and contralateral subtotal thyroidectomies also have been used.
• Because of excellent effectiveness in regulating thyroid function with antithyroid medications and radioactive iodine, thyroidectomy is reserved for special circumstances, including the following:
o Severe hyperthyroidism in children
o Pregnant women who are noncompliant or intolerant of antithyroid medication
o Patients with very large goiters or severe ophthalmopathy
o Patients who refuse radioactive iodine therapy
o Refractory amiodarone-induced hyperthyroidism
o Patients who require normalization of thyroid functions quickly, such as pregnant women, women who desire pregnancy in the next 6 months, or patients with unstable cardiac conditions
• With current operative techniques, bilateral subtotal thyroidectomy should have a mortality rate approaching zero in patients who are properly prepared. Historically, the most common cause of thyroid storm, a physiologic decompensation in patients who are severely thyrotoxic, with a mortality rate of 50-100%, is operative stress.
• Preoperative preparation includes antithyroid medication, stable (cold) iodine treatment (to decrease gland vascularity), and beta-blocker therapy.5
o Generally, antithyroid drug therapy should be administered until thyroid functions normalize (4-8 wk).
o Titrate propranolol until the resting pulse rate is less than 80 bpm.
o Finally, administer iodide as SSKI (1-2 drops bid for 10-14 d) before surgery.
o An additional benefit from stable iodide therapy, besides the reduction in thyroid hormone excretion, is a demonstrated decrease in thyroid blood flow and possible reduction in blood loss during surgery.
• Adverse effects of therapy include recurrent laryngeal nerve damage and hypoparathyroidism due to damage of local structures during surgery. (A Swiss study indicated that a single dose of steroid administered prior to thyroidectomy can reduce nausea, pain, and vomiting associated with the procedure, as well as improve voice function.
*Ablation means removal of material from the surface of an object by vaporization, chipping, or other erosive processes.
Investigation of Grave’s Disease
Laboratory Tests
BLOOD TESTS Thyroid Function Test
1. Ultrasensitive TSH test
a. Detects even tiny amounts of TSH in the blood
b. High TSH indicates thyroid gland is failing because ofproblem that is directly affecting throud (Primary hypothyroidism)
c. Low TSH indicares overactive thyroid that producing too much thyroid (Hyperthyroidism)
d. Low TSH: abnormal pituitary gland that prevents it from making enough TSH to stimulate thyroid (secondary hypothyroidism)
2. T4/throxine test [Free T4 (Ft4) or Free T4 Index (FT4I or FTI)]
a. Circulates in the blood in 2 forms: bound to proteins that prevent the T4 from entering tissues/ free T4 that enter tissues freely
b. Free T4 fraction determine how the thyroid is functioning
c. High FT4/FTI hyperthyroidism; low hypothyroidism
d. elevated TSH and low FT4 or FTI indicates primary hypothyroidism due to disease in the thyroid gland.
e. A low TSH and low FT4 or FTI indicates hypothyroidism due to a problem involving the pituitary gland.
f. A low TSH with an elevated FT4 or FTI is found in individuals who have hyperthyroidism.
3. T3/triiodothyronine test
a. to diagnosis hyperthyroidism or to determine the severity of the hyperthyroidism.
b. High T3 = hyperthyroid
4. Thyroid-stimulating immunoglobulin test (TSH antibody test)
a. Isn’t necessary to diagnose Grave’s
b. Most people with Grave’s have this antibody, but people with other hyperthyroidism do not.
c. 2 antibodies: throid peroxidase and thyroglobulin
d. Anti_thyroid peroxidase (anti-TPO): Autoantibody that found in most people with Grave’s disease, as well as in Hashimptp’s thyroiditis.
Imaging Tests
1. The radioactive iodine uptake test (RAIU)
o Thyroid gland uses iodine to make thyroid hormone (T4)
o Measures the amount of iodine the thyroid collects from the bloodstream. High levels of iodine uptake can indicate hyperthyroidism, eg. Graves’ disease.
o A thyroid scan shows how and where iodine is distributed in the thyroid. In Graves’ disease, the entire thyroid gland is involved so the iodine shows up throughout the gland. Other causes of hyperthyroidism such as nodules—small lumps in the gland—will show a different pattern of iodine distribution.
2. Ultrasond with color-Doppler evaluation
o Cost effective
o 1st step in all hyperthyroid patients
References:
http://www.endocrine.niddk.nih.gov/pubs/graves/
http://www.thyroid.org/patients/brochures/Graves_brochure.pdf
http://www.labtestsonline.org/understanding/conditions/graves-2.html
http://emedicine.medscape.com/article/120619-diagnosis
http://www.thyroid.org/patients/brochures/FunctionTests_brochure.pdf
BLOOD TESTS Thyroid Function Test
1. Ultrasensitive TSH test
a. Detects even tiny amounts of TSH in the blood
b. High TSH indicates thyroid gland is failing because ofproblem that is directly affecting throud (Primary hypothyroidism)
c. Low TSH indicares overactive thyroid that producing too much thyroid (Hyperthyroidism)
d. Low TSH: abnormal pituitary gland that prevents it from making enough TSH to stimulate thyroid (secondary hypothyroidism)
2. T4/throxine test [Free T4 (Ft4) or Free T4 Index (FT4I or FTI)]
a. Circulates in the blood in 2 forms: bound to proteins that prevent the T4 from entering tissues/ free T4 that enter tissues freely
b. Free T4 fraction determine how the thyroid is functioning
c. High FT4/FTI hyperthyroidism; low hypothyroidism
d. elevated TSH and low FT4 or FTI indicates primary hypothyroidism due to disease in the thyroid gland.
e. A low TSH and low FT4 or FTI indicates hypothyroidism due to a problem involving the pituitary gland.
f. A low TSH with an elevated FT4 or FTI is found in individuals who have hyperthyroidism.
3. T3/triiodothyronine test
a. to diagnosis hyperthyroidism or to determine the severity of the hyperthyroidism.
b. High T3 = hyperthyroid
4. Thyroid-stimulating immunoglobulin test (TSH antibody test)
a. Isn’t necessary to diagnose Grave’s
b. Most people with Grave’s have this antibody, but people with other hyperthyroidism do not.
c. 2 antibodies: throid peroxidase and thyroglobulin
d. Anti_thyroid peroxidase (anti-TPO): Autoantibody that found in most people with Grave’s disease, as well as in Hashimptp’s thyroiditis.
Imaging Tests
1. The radioactive iodine uptake test (RAIU)
o Thyroid gland uses iodine to make thyroid hormone (T4)
o Measures the amount of iodine the thyroid collects from the bloodstream. High levels of iodine uptake can indicate hyperthyroidism, eg. Graves’ disease.
o A thyroid scan shows how and where iodine is distributed in the thyroid. In Graves’ disease, the entire thyroid gland is involved so the iodine shows up throughout the gland. Other causes of hyperthyroidism such as nodules—small lumps in the gland—will show a different pattern of iodine distribution.
2. Ultrasond with color-Doppler evaluation
o Cost effective
o 1st step in all hyperthyroid patients
References:
http://www.endocrine.niddk.nih.gov/pubs/graves/
http://www.thyroid.org/patients/brochures/Graves_brochure.pdf
http://www.labtestsonline.org/understanding/conditions/graves-2.html
http://emedicine.medscape.com/article/120619-diagnosis
http://www.thyroid.org/patients/brochures/FunctionTests_brochure.pdf
Wednesday, August 25, 2010
Signs and symptoms
Hypertension
Cushing's syndrome can be exogenous, resulting from the administration of glucocorticoids or adrenocorticotrophic hormone (ACTH), or endogenous, secondary to increased secretion of cortisol or ACTH. Hypertension is one of the most distinguishing features of endogenous Cushing's syndrome, as it is present in about 80% of adult patients and in almost half of children and adolescents patients. Hypertension results from the interplay of several pathophysiological mechanisms regulating plasma volume, peripheral vascular resistance and cardiac output, all of which may be increased. The therapeutic goal is to find and remove the cause of excess glucocorticoids, which, in most cases of endogenous Cushing's syndrome, is achieved surgically. Treatment of Cushing's syndrome usually results in resolution or amelioration of hypertension. However, some patients may not achieve normotension or may require a prolonged period of time for the correction of hypercortisolism. Therefore, therapeutic strategies for Cushing's-specific hypertension (to normalise blood pressure and decrease the duration of hypertension) are necessary to decrease the morbidity and mortality associated with this disorder. The various pathogenetic mechanisms that have been proposed for the development of glucocorticoid-induced hypertension in Cushing's syndrome and its management are discussed.
Muscle wasting
By contrast, glucocorticoids (cortisol) exert a clear catabolic effect, and their levels are frequently increased in diseased states. Cortisol activates a catabolic enzyme called ubiquitin-proteasome, which breaks down muscle tissue. Acute glucocorticoid treatment increases the expression of ubiquitin-proteases in muscle, resulting in catabolism.
Increased blood glucose
Other signs include polyuria (and accompanying polydipsia), persistent hypertension (due to cortisol's enhancement of epinephrine's vasoconstrictive effect) and insulin resistance (especially common in ectopic ACTH production), leading to hyperglycemia (high blood sugar) which can lead to diabetes mellitus.
Cushing's syndrome can be exogenous, resulting from the administration of glucocorticoids or adrenocorticotrophic hormone (ACTH), or endogenous, secondary to increased secretion of cortisol or ACTH. Hypertension is one of the most distinguishing features of endogenous Cushing's syndrome, as it is present in about 80% of adult patients and in almost half of children and adolescents patients. Hypertension results from the interplay of several pathophysiological mechanisms regulating plasma volume, peripheral vascular resistance and cardiac output, all of which may be increased. The therapeutic goal is to find and remove the cause of excess glucocorticoids, which, in most cases of endogenous Cushing's syndrome, is achieved surgically. Treatment of Cushing's syndrome usually results in resolution or amelioration of hypertension. However, some patients may not achieve normotension or may require a prolonged period of time for the correction of hypercortisolism. Therefore, therapeutic strategies for Cushing's-specific hypertension (to normalise blood pressure and decrease the duration of hypertension) are necessary to decrease the morbidity and mortality associated with this disorder. The various pathogenetic mechanisms that have been proposed for the development of glucocorticoid-induced hypertension in Cushing's syndrome and its management are discussed.
Muscle wasting
By contrast, glucocorticoids (cortisol) exert a clear catabolic effect, and their levels are frequently increased in diseased states. Cortisol activates a catabolic enzyme called ubiquitin-proteasome, which breaks down muscle tissue. Acute glucocorticoid treatment increases the expression of ubiquitin-proteases in muscle, resulting in catabolism.
Increased blood glucose
Other signs include polyuria (and accompanying polydipsia), persistent hypertension (due to cortisol's enhancement of epinephrine's vasoconstrictive effect) and insulin resistance (especially common in ectopic ACTH production), leading to hyperglycemia (high blood sugar) which can lead to diabetes mellitus.
Cushing's Syndrome: Symptoms - Focus on moonface, central obesity, thin skin and fatigue.
Cushing’s Syndrome
It is basically high levels of cortisol or adrenocorticotropic hormone (which leads to high cortisol).
The reasons for the manifestations of the many symptoms relate directly to the actions of these hormones.
Overall symptoms
Most people with Cushing syndrome will have:
• Upper body obesity (above the waist) and thin arms and legs
• Round, red, full face (moon face)
• Slow growth rate in children
Skin changes that are often seen:
• Acne or skin infections
• Purple marks (1/2 inch or more wide) called striae on the skin of the abdomen, thighs, and breasts
• Thin skin with easy bruising
Muscle and bone changes include:
• Backache, which occurs with routine activities
• Bone pain or tenderness
• Collection of fat between the shoulders (buffalo hump)
• Thinning of the bones, which leads to rib and spine fractures
• Weak muscles
Women with Cushing syndrome often have:
• Excess hair growth on the face, neck, chest, abdomen, and thighs
• Menstrual cycle becomes irregular or stops
Men may have:
• Decreased fertility
• Decreased or no desire for sex
• Impotence
Other symptoms that may occur with this disease:
• Mental changes, such as depression, anxiety, or changes in behavior
• Fatigue
• Headache
• High blood pressure
• Increased thirst and urination
So how does excess cortisol cause the symptoms “moonface”, central obesity, thin skin and severe fatigue?
Cortisol counteracts insulin, contributing to hyperglycemia via stimulation of hepatic gluconeogenesis and inhibition of the peripheral utilization of glucose by decreasing the translocation of glucose transporters to the cell membrane, especially GLUT4. However cortisol increases glycogen synthesis (glycogenesis) in the liver. Cortisol also acts as an anti-diuretic hormone
Moonface
The reason why fat tends to accumulate where it does is not known, but perhaps it is because there are more stress hormone receptors in the face and body, which are more sensitive to insulin, where skeletal muscle is less sensitive to insulin. Another reason is due to increased mobilization of fat in extremities and deposition in the trunk.
Central obesity
It is generally suggested that stress-induced cortisol weight is usually gained around the waistline, because fat cells in that area are more sensitive to cortisol. The fat cells in your abdomen are richer in stress hormone receptors, are particularly sensitive to high insulin, and are very effective at storing energy – more so than fat cells you would find in other areas of the body.
Thin skin
In laboratory rats, cortisol-induced collagen loss in the skin is ten times greater than any other tissue. It is probable that increasing copper availability for immune purposes is the reason many copper enzymes are stimulated to an extent which is often 50% of their total potential by cortisol. This includes lysyl oxidase, an enzyme which is used to cross link collagen and elastin.
Severe fatigue
This is due to increased catabolism of protein for gluconeogenesis and decreased synthesis of protein (except for in the liver). This leads to muscle weakness and thus fatigue. As the effects of insulin are also reduced, glucose is not being effectively taken into cells, especially skeletal muscle which can also contribute to feeling fatigued.
It is basically high levels of cortisol or adrenocorticotropic hormone (which leads to high cortisol).
The reasons for the manifestations of the many symptoms relate directly to the actions of these hormones.
Overall symptoms
Most people with Cushing syndrome will have:
• Upper body obesity (above the waist) and thin arms and legs
• Round, red, full face (moon face)
• Slow growth rate in children
Skin changes that are often seen:
• Acne or skin infections
• Purple marks (1/2 inch or more wide) called striae on the skin of the abdomen, thighs, and breasts
• Thin skin with easy bruising
Muscle and bone changes include:
• Backache, which occurs with routine activities
• Bone pain or tenderness
• Collection of fat between the shoulders (buffalo hump)
• Thinning of the bones, which leads to rib and spine fractures
• Weak muscles
Women with Cushing syndrome often have:
• Excess hair growth on the face, neck, chest, abdomen, and thighs
• Menstrual cycle becomes irregular or stops
Men may have:
• Decreased fertility
• Decreased or no desire for sex
• Impotence
Other symptoms that may occur with this disease:
• Mental changes, such as depression, anxiety, or changes in behavior
• Fatigue
• Headache
• High blood pressure
• Increased thirst and urination
So how does excess cortisol cause the symptoms “moonface”, central obesity, thin skin and severe fatigue?
Cortisol counteracts insulin, contributing to hyperglycemia via stimulation of hepatic gluconeogenesis and inhibition of the peripheral utilization of glucose by decreasing the translocation of glucose transporters to the cell membrane, especially GLUT4. However cortisol increases glycogen synthesis (glycogenesis) in the liver. Cortisol also acts as an anti-diuretic hormone
Moonface
The reason why fat tends to accumulate where it does is not known, but perhaps it is because there are more stress hormone receptors in the face and body, which are more sensitive to insulin, where skeletal muscle is less sensitive to insulin. Another reason is due to increased mobilization of fat in extremities and deposition in the trunk.
Central obesity
It is generally suggested that stress-induced cortisol weight is usually gained around the waistline, because fat cells in that area are more sensitive to cortisol. The fat cells in your abdomen are richer in stress hormone receptors, are particularly sensitive to high insulin, and are very effective at storing energy – more so than fat cells you would find in other areas of the body.
Thin skin
In laboratory rats, cortisol-induced collagen loss in the skin is ten times greater than any other tissue. It is probable that increasing copper availability for immune purposes is the reason many copper enzymes are stimulated to an extent which is often 50% of their total potential by cortisol. This includes lysyl oxidase, an enzyme which is used to cross link collagen and elastin.
Severe fatigue
This is due to increased catabolism of protein for gluconeogenesis and decreased synthesis of protein (except for in the liver). This leads to muscle weakness and thus fatigue. As the effects of insulin are also reduced, glucose is not being effectively taken into cells, especially skeletal muscle which can also contribute to feeling fatigued.
Wednesday, August 18, 2010
Complications and Prognosis of GORD
Complications for GERD
Ulcers
The liquid from the stomach that refluxes into the esophagus damages the cells lining the esophagus. The body responds in the way that it usually responds to damage, which is with inflammation (esophagitis) (50% of people with GERD present with oesophagitis). The purpose of inflammation is to neutralize the damaging agent and begin the process of healing. If the damage goes deeply into the esophagus, an ulcer forms. An ulcer is simply a break in the lining of the esophagus that occurs in an area of inflammation. Ulcers and the additional inflammation they provoke may erode into the esophageal blood vessels and give rise to bleeding into the esophagus.
Occasionally, the bleeding is severe and may require:
• blood transfusions
• an endoscopic procedure (in which a tube is inserted through the mouth into the esophagus to visualize the site of bleeding and to stop the bleeding), or
• surgical treatment.
Strictures
Ulcers of the esophagus heal with the formation of scars (fibrosis). Over time, the scar tissue shrinks and narrows the lumen (inner cavity) of the esophagus. This scarred narrowing is called a stricture. Swallowed food may get stuck in the esophagus once the narrowing becomes severe enough (usually when it restricts the esophageal lumen to a diameter of one centimeter). This situation may necessitate endoscopic removal of the stuck food. Then, to prevent food from sticking, the narrowing must be stretched (widened). Moreover, to prevent a recurrence of the stricture, reflux also must be prevented.
Barrett's esophagus
The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. The medical significance of Barrett’s esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. It is considered to be a premalignant condition because it is associated with an increased risk of esophageal cancer (more specifically, adenocarcinoma) of about 0.5% per patient-year. Barrett esophagus is present in 8-15% of patients with gastroesophageal reflux disease (GERD) and may progress to adenocarcinoma.
Long-standing and/or severe GERD causes changes in the cells that line the esophagus in some patients. These cells are pre-cancerous and finally become cancerous. This condition is referred to as Barrett's esophagus and occurs in approximately 10% of patients with GERD. The type of esophageal cancer associated with Barrett's esophagus (adenocarcinoma) is increasing in frequency. It is not clear why some patients with GERD develop Barrett's esophagus, but most do not.
Barrett's esophagus can be recognized visually at the time of an endoscopy and confirmed by microscopic examination of biopsies of the lining cells. Then, patients with Barrett's esophagus may require periodic surveillance endoscopies with biopsies. The purpose of surveillance is to detect pre-cancerous changes so that cancer-preventing treatment can be started. It is also believed that patients with Barrett's esophagus should receive maximum treatment for GERD to prevent further damage to the esophagus. Procedures are being studied that remove the abnormal lining cells. Several endoscopic, non-surgical techniques can be used to remove the cells. These techniques are attractive because they do not require surgery; however, there are associated complications, and the long-term effectiveness of the treatments has not yet been determined. Surgical removal of the esophagus is always an option.
Cough and asthma
Many nerves are in the lower esophagus. Some of these nerves are stimulated by the refluxed acid, and this stimulation results in pain (usually heartburn). Other nerves that are stimulated do not produce pain. Instead, they stimulate yet other nerves that provoke coughing. In this way, refluxed liquid can cause coughing without ever reaching the throat! In a similar manner, reflux into the lower esophagus can stimulate esophageal nerves that connect to and can stimulate nerves going to the lungs. These nerves to the lungs then can cause the smaller breathing tubes to narrow, resulting in an attack of asthma.
So, GERD is a common cause of unexplained coughing. Although GERD also may be a cause of asthma, it is more likely that it precipitates asthmatic attacks in patients who already have asthma. Although chronic cough and asthma are common ailments, it is not clear just how often they are aggravated or caused by GERD.
Inflammation of the throat and larynx
If refluxed liquid gets past the upper esophageal sphincter, it can enter the throat (pharynx) and even the voice box (larynx). The resulting inflammation can lead to a sore throat and hoarseness. As with coughing and asthma, it is not clear just how commonly GERD is responsible for otherwise unexplained inflammation of the throat and larynx.
Inflammation and infection of the lungs
Refluxed liquid that passes the larynx can enter the lungs. The reflux of liquid into the lungs (called aspiration) often results in coughing and choking. Aspiration, however, can also occur without producing these symptoms. With or without these symptoms, aspiration may lead to infection of the lungs and result in pneumonia. This type of pneumonia is a serious problem requiring immediate treatment. When aspiration is unaccompanied by symptoms, it can result in a slow, progressive scarring of the lungs (pulmonary fibrosis) that can be seen on chest x-rays. Aspiration is more likely to occur at night because that is when the processes (mechanisms) that protect against reflux are not active and the coughing reflex that protects the lungs also is not active.
Some Stats
• White males are at a greater risk for Barrett esophagus and adenocarcinoma than other populations.
• Gastroesophageal reflux disease (GERD) is as common in men as in women.
• The male-to-female incidence ratio for esophagitis is 2:1-3:1. The male-to-female incidence ratio for Barrett esophagus is 10:1.
• Gastroesophageal reflux disease (GERD) occurs in all age groups.
• The prevalence of gastroesophageal reflux disease (GERD) increases in people older than 40 years.
• Deaths: 1,000 (USA annual deaths calculated from this data: 1,000 deaths in the USA 1984-88 for "GERD and related esophageal disorders" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994))
• Incidence: 8,160,000 (USA prevalence calculated from this data: 3-7% of the population in the USA 1985 for "GERD and related esophageal disorders" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994)
• 0.012% (ratio of deaths to prevalence).
Ulcers
The liquid from the stomach that refluxes into the esophagus damages the cells lining the esophagus. The body responds in the way that it usually responds to damage, which is with inflammation (esophagitis) (50% of people with GERD present with oesophagitis). The purpose of inflammation is to neutralize the damaging agent and begin the process of healing. If the damage goes deeply into the esophagus, an ulcer forms. An ulcer is simply a break in the lining of the esophagus that occurs in an area of inflammation. Ulcers and the additional inflammation they provoke may erode into the esophageal blood vessels and give rise to bleeding into the esophagus.
Occasionally, the bleeding is severe and may require:
• blood transfusions
• an endoscopic procedure (in which a tube is inserted through the mouth into the esophagus to visualize the site of bleeding and to stop the bleeding), or
• surgical treatment.
Strictures
Ulcers of the esophagus heal with the formation of scars (fibrosis). Over time, the scar tissue shrinks and narrows the lumen (inner cavity) of the esophagus. This scarred narrowing is called a stricture. Swallowed food may get stuck in the esophagus once the narrowing becomes severe enough (usually when it restricts the esophageal lumen to a diameter of one centimeter). This situation may necessitate endoscopic removal of the stuck food. Then, to prevent food from sticking, the narrowing must be stretched (widened). Moreover, to prevent a recurrence of the stricture, reflux also must be prevented.
Barrett's esophagus
The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. The medical significance of Barrett’s esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. It is considered to be a premalignant condition because it is associated with an increased risk of esophageal cancer (more specifically, adenocarcinoma) of about 0.5% per patient-year. Barrett esophagus is present in 8-15% of patients with gastroesophageal reflux disease (GERD) and may progress to adenocarcinoma.
Long-standing and/or severe GERD causes changes in the cells that line the esophagus in some patients. These cells are pre-cancerous and finally become cancerous. This condition is referred to as Barrett's esophagus and occurs in approximately 10% of patients with GERD. The type of esophageal cancer associated with Barrett's esophagus (adenocarcinoma) is increasing in frequency. It is not clear why some patients with GERD develop Barrett's esophagus, but most do not.
Barrett's esophagus can be recognized visually at the time of an endoscopy and confirmed by microscopic examination of biopsies of the lining cells. Then, patients with Barrett's esophagus may require periodic surveillance endoscopies with biopsies. The purpose of surveillance is to detect pre-cancerous changes so that cancer-preventing treatment can be started. It is also believed that patients with Barrett's esophagus should receive maximum treatment for GERD to prevent further damage to the esophagus. Procedures are being studied that remove the abnormal lining cells. Several endoscopic, non-surgical techniques can be used to remove the cells. These techniques are attractive because they do not require surgery; however, there are associated complications, and the long-term effectiveness of the treatments has not yet been determined. Surgical removal of the esophagus is always an option.
Cough and asthma
Many nerves are in the lower esophagus. Some of these nerves are stimulated by the refluxed acid, and this stimulation results in pain (usually heartburn). Other nerves that are stimulated do not produce pain. Instead, they stimulate yet other nerves that provoke coughing. In this way, refluxed liquid can cause coughing without ever reaching the throat! In a similar manner, reflux into the lower esophagus can stimulate esophageal nerves that connect to and can stimulate nerves going to the lungs. These nerves to the lungs then can cause the smaller breathing tubes to narrow, resulting in an attack of asthma.
So, GERD is a common cause of unexplained coughing. Although GERD also may be a cause of asthma, it is more likely that it precipitates asthmatic attacks in patients who already have asthma. Although chronic cough and asthma are common ailments, it is not clear just how often they are aggravated or caused by GERD.
Inflammation of the throat and larynx
If refluxed liquid gets past the upper esophageal sphincter, it can enter the throat (pharynx) and even the voice box (larynx). The resulting inflammation can lead to a sore throat and hoarseness. As with coughing and asthma, it is not clear just how commonly GERD is responsible for otherwise unexplained inflammation of the throat and larynx.
Inflammation and infection of the lungs
Refluxed liquid that passes the larynx can enter the lungs. The reflux of liquid into the lungs (called aspiration) often results in coughing and choking. Aspiration, however, can also occur without producing these symptoms. With or without these symptoms, aspiration may lead to infection of the lungs and result in pneumonia. This type of pneumonia is a serious problem requiring immediate treatment. When aspiration is unaccompanied by symptoms, it can result in a slow, progressive scarring of the lungs (pulmonary fibrosis) that can be seen on chest x-rays. Aspiration is more likely to occur at night because that is when the processes (mechanisms) that protect against reflux are not active and the coughing reflex that protects the lungs also is not active.
Some Stats
• White males are at a greater risk for Barrett esophagus and adenocarcinoma than other populations.
• Gastroesophageal reflux disease (GERD) is as common in men as in women.
• The male-to-female incidence ratio for esophagitis is 2:1-3:1. The male-to-female incidence ratio for Barrett esophagus is 10:1.
• Gastroesophageal reflux disease (GERD) occurs in all age groups.
• The prevalence of gastroesophageal reflux disease (GERD) increases in people older than 40 years.
• Deaths: 1,000 (USA annual deaths calculated from this data: 1,000 deaths in the USA 1984-88 for "GERD and related esophageal disorders" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994))
• Incidence: 8,160,000 (USA prevalence calculated from this data: 3-7% of the population in the USA 1985 for "GERD and related esophageal disorders" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994)
• 0.012% (ratio of deaths to prevalence).
SS and DD of GERD
Gastroesophageal Reflux Disease [GERD]
DDx
• Peptic ulcer disease, gastritis, nonulcer dyspepsia, or cholelithiasis
• Angina pectoris - chest pain
• Infectious esophagitis: Candida, herpes simplex virus, cytomegalovirus
• Pill-induced esophagitis - dysphagia, odynophagia
• Esophageal motility disorders, eg, achalasia, esophageal spasm, scleroderma
• Radiation esophagitis - dysphagia, odynophagia
• Zollinger-Ellison syndrome (gastrinoma) - heartburn, dysphagia
Typical Presentation
Heartburn - often occurs 30–60 minutes after meals and upon reclining/ relief from taking antacids or baking soda, symptom is dominant, the diagnosis is established with a high degree of reliability.
Concomitant nausea, vomiting or early satiety – Gastroparesis is suspected.
Overall, a clinical diagnosis of gastroesophageal reflux has a sensitivity of 80% but a specificity of only 70%.
Regurgitation - the spontaneous reflux of sour or bitter gastric contents into the mouth.
Dysphagia or Odynophagia - occurs in one-third of patients and may be due to erosive esophagitis, abnormal esophageal peristalsis, or the development of an esophageal stricture.
It is necessary to undergo gastroscopy if find weight loss, anemia, family history of Upper GI cancer, GI bleed or advanced age.
Atypical Presentation
• Asthma – microaspiration causes initiation of asthma, adult onset asthma KIV.
• Otitis Media – children, with effusion results hearing loss
• Chronic cough
• Chronic laryngitis
• Sore throat
• Chest pain
In the absence of heartburn or regurgitation, atypical symptoms are unlikely to be related to gastroesophageal reflux.
Physical examination and laboratory data are normal in uncomplicated disease.
DDx
• Peptic ulcer disease, gastritis, nonulcer dyspepsia, or cholelithiasis
• Angina pectoris - chest pain
• Infectious esophagitis: Candida, herpes simplex virus, cytomegalovirus
• Pill-induced esophagitis - dysphagia, odynophagia
• Esophageal motility disorders, eg, achalasia, esophageal spasm, scleroderma
• Radiation esophagitis - dysphagia, odynophagia
• Zollinger-Ellison syndrome (gastrinoma) - heartburn, dysphagia
Typical Presentation
Heartburn - often occurs 30–60 minutes after meals and upon reclining/ relief from taking antacids or baking soda, symptom is dominant, the diagnosis is established with a high degree of reliability.
Concomitant nausea, vomiting or early satiety – Gastroparesis is suspected.
Overall, a clinical diagnosis of gastroesophageal reflux has a sensitivity of 80% but a specificity of only 70%.
Regurgitation - the spontaneous reflux of sour or bitter gastric contents into the mouth.
Dysphagia or Odynophagia - occurs in one-third of patients and may be due to erosive esophagitis, abnormal esophageal peristalsis, or the development of an esophageal stricture.
It is necessary to undergo gastroscopy if find weight loss, anemia, family history of Upper GI cancer, GI bleed or advanced age.
Atypical Presentation
• Asthma – microaspiration causes initiation of asthma, adult onset asthma KIV.
• Otitis Media – children, with effusion results hearing loss
• Chronic cough
• Chronic laryngitis
• Sore throat
• Chest pain
In the absence of heartburn or regurgitation, atypical symptoms are unlikely to be related to gastroesophageal reflux.
Physical examination and laboratory data are normal in uncomplicated disease.
Esophageal Cancer: Pathophysiology, Aetiology and Risk Factors
These are the risk factors for the two main types of esophageal cancer.
- Gastroesophageal reflux disease (GERD) is the most common predisposing factor for adenocarcinoma of the esophagus.
o As a consequence of the irritation caused by the reflux of acid and bile, 10-15% of patients who undergo endoscopy for evaluation of GERD symptoms are found to have Barrett epithelium.
o Chronic gastroesophageal reflux is the most important, with severe, long-standing reflux symptoms increasing the risk of cancer by a factor of 40. Chronic gastroesophageal reflux disease is associated with Barrett's metaplasia (Barrett's esophagus), a condition in which an abnormal columnar epithelium replaces the stratified squamous epithelium that normally lines the distal esophagus.
o Adenocarcinoma may develop in these patients, representing the last event of a sequence that starts with the development of GERD and progresses to (Barrett) metaplasia, low-grade dysplasia, high-grade dysplasia, and adenocarcinoma.
o Most esophageal ACs are believed to arise from Barrett's esophagus. Although this mucosal change appears to be a favorable adaptation to chronic reflux—columnar epithelium appears to be more resistant to reflux-induced injury than the native squamous cells—this specialized intestinal metaplasia may become dysplastic and ultimately malignant, with genetic alterations that activate proto-oncogenes, disable tumor suppressor genes, or both. Factors that increase the risk for gastroesophageal reflux, such as obesity or medications that lower the lower esophageal sphincter tone, may result in an increased risk for esophageal AC.
o The progression of Barrett metaplasia to adenocarcinoma is associated with several changes in gene structure, gene expression, and protein structure. The oncosuppressor gene TP53 and various oncogenes, particularly erb -b2, have been studied as potential markers. Casson and colleagues identified mutations in the TP53 gene in patients with Barrett epithelium associated with adenocarcinoma.8 In addition, alterations in p16 genes and cell cycle abnormalities or aneuploidy appear to be some of the most important and well-characterized molecular changes. However, the exact sequence of events in the progression of Barrett esophagus to adenocarcinoma is not known. Probably multiple molecular pathways interact and are involved.
o Allelic losses at chromosomes 4q, 5q, 9p, 9q, and 18q and abnormalities of p53, Rb, cyclin D1, and c-myc have been implicated.
The esophagus has no serosa, thus reducing the resistance against local spread of invasive cancer cells. Furthermore, the esophagus has an extensive network of lymphatics, allowing for early regional tumor advancement. The end result is local spread and invasion into surrounding tissue, with early metastatic disease developing in most patients.
- Plummer-Vinson syndrome—the triad of dysphagia, iron deficiency anemia, and esophageal webs
- Human papillomavirus has received the most attention. It is believed that the infection results in loss of function of the tumor suppressor genes p53 and Rb. The importance of this mechanism is not well established.
- Tylosis with esophageal cancer: A genetic disorder characterized by thickening (hyperkeratosis) of the palms and soles, white patches in the mouth (oral leukoplakia), and a very high risk of esophageal cancer. This is the only genetic syndrome known to predispose to squamous cell carcinoma of the esophagus. The risk of developing esophageal cancer is 95% by age 70. The syndrome is inherited in an autosomal dominant manner. The gene has been mapped to chromosome 17q25 but has not been identified. The syndrome is also called nonepidermolytic palmoplantar keratoderma.
- In a high-risk country such as China, deficiencies in vitamin or microelement levels may play a role in causation. Riboflavin deficiency in China may contribute to a high incidence of esophageal cancer.
- Heavy drinking: People who have more than 3 alcoholic drinks each day are more likely than people who don't drink to develop squamous cell carcinoma of the esophagus. Heavy drinkers who smoke are at a much higher risk than heavy drinkers who don't smoke. In other words, these two factors act together to increase the risk even more.
Esophageal cancer: Signs and Symptoms
Symptoms:
• Pain and difficulty in swallowing, hiccups with pain, food gets stuck in the esophagus, and food may come back up
o constricted to < 14 mm
o Swallowing may be painful when the cancer is large enough to block the esophagus. Pain may be felt a few seconds after swallowing, as food or liquid reaches the tumor and cannot get past it.
o often mild when it starts, and then gets worse over time. The opening of the esophagus is often narrowed to about half of its normal width. Dysphagia is commonly a late symptom caused by a large cancer.
• Thick mucus and more saliva
o To help pass food through the esophagus, the body makes more saliva. This causes some people to complain of bringing up lots of thick mucus or saliva.
• lose weight unintentionally
• Heartburn -reflux
• Pain at the back – nerve compression
• Persistent cough
o reflux
o tracheoesophageal fistula. This occurs when the tumor destroys the tissue between the esophagus and the trachea (windpipe) and creates a hole connecting them. With this connection, anything that is swallowed can pass from the esophagus into the windpipe and lungs. This leads to frequent coughing and gagging.
• Hiccups: damage or irritation of vagus and phrenic nerves, reflux
• Malaena
o Sometimes the cancer will bleed. If there is enough blood, stools may turn black.
• Vomit blood
• Hoarse voice
o Compression of the recurrent laryngeal nerve may lead to vocal cord paralysis and hoarseness.
Signs:
• Signs are often absent
• General inspection: weight loss, anorexia
• The hands: Inspect for palmer creases for pallor
o Anaemia- iron deficiency anaemia
• Neck: Palpate the supraclavicular nodes
o Lymphatic spread to internal jugular, cervical, supraclavicular, mediastinal, and celiac nodes is common.
• Examine for evidence of retrosternal thyroid enlargement.
• Pain and difficulty in swallowing, hiccups with pain, food gets stuck in the esophagus, and food may come back up
o constricted to < 14 mm
o Swallowing may be painful when the cancer is large enough to block the esophagus. Pain may be felt a few seconds after swallowing, as food or liquid reaches the tumor and cannot get past it.
o often mild when it starts, and then gets worse over time. The opening of the esophagus is often narrowed to about half of its normal width. Dysphagia is commonly a late symptom caused by a large cancer.
• Thick mucus and more saliva
o To help pass food through the esophagus, the body makes more saliva. This causes some people to complain of bringing up lots of thick mucus or saliva.
• lose weight unintentionally
• Heartburn -reflux
• Pain at the back – nerve compression
• Persistent cough
o reflux
o tracheoesophageal fistula. This occurs when the tumor destroys the tissue between the esophagus and the trachea (windpipe) and creates a hole connecting them. With this connection, anything that is swallowed can pass from the esophagus into the windpipe and lungs. This leads to frequent coughing and gagging.
• Hiccups: damage or irritation of vagus and phrenic nerves, reflux
• Malaena
o Sometimes the cancer will bleed. If there is enough blood, stools may turn black.
• Vomit blood
• Hoarse voice
o Compression of the recurrent laryngeal nerve may lead to vocal cord paralysis and hoarseness.
Signs:
• Signs are often absent
• General inspection: weight loss, anorexia
• The hands: Inspect for palmer creases for pallor
o Anaemia- iron deficiency anaemia
• Neck: Palpate the supraclavicular nodes
o Lymphatic spread to internal jugular, cervical, supraclavicular, mediastinal, and celiac nodes is common.
• Examine for evidence of retrosternal thyroid enlargement.
Tuesday, August 17, 2010
Esophageal Cancer (Investigation)
Esophageal Cancer (Investigation)
Imaging studies
Barium swallow
Barium is swallowed. It coats the walls of the esophagus. When x-rays are taken, the barium outlines the esophagus clearly. This test can be done by itself, or as a part of a series of x-rays that includes the stomach and part of the intestine, called an upper gastrointestinal (GI) series. A barium swallow test can show any irregularities in the normally smooth surface of the esophageal wall.
A barium swallow test is often the first test done to see what is causing a problem with swallowing. Even small, early cancer can be seen using this test. Tumors grow out from the lining of the esophagus. These masses stick out into the lumen (the open area of the tube). They cause the barium to coat that area of the esophagus unevenly. In the barium x-ray, early cancers can look like small round bumps. They also can appear as a flat, raised area called a plaque. Advanced cancers look like large irregular areas and cause a narrowing of the width of the esophagus. A barium swallow test cannot be used to determine how far a cancer may have spread outside of the esophagus.
A barium swallow test can also be used to diagnose one of the more serious complications of esophageal cancer called a tracheoesophageal fistula. This occurs when the tumor destroys the tissue between the esophagus and the trachea and creates a hole connecting them. With this connection, anything that is swallowed can pass from the esophagus into the windpipe and lungs. This leads to frequent coughing and gagging. This problem can be helped with surgery or an endoscopy procedure.
Computed tomography (CAT or CT) scan
CT scans are not usually used to make the initial diagnosis of esophageal cancer, but they can help see how far it has spread. CT scans often can show where the cancer is in the esophagus. These scans can also show the nearby organs and lymph nodes, as well as distant areas of cancer spread. The CT scan can help to determine whether surgery is a good treatment option.
Before any pictures are taken, you may be asked to drink 1 to 2 pints of oral contrast. This helps outline the esophagus and intestines so that certain areas are not mistaken for tumors. You may also receive an IV (intravenous) line through which a different kind of contrast dye (IV contrast) is injected. This helps better outline structures in your body.
CT scans can also be used to guide a biopsy needle precisely into a suspected area of cancer spread. This procedure is called a CT-guided needle biopsy. The patient lies on the CT scanning table while a radiologist advances a biopsy needle toward the location of the mass. CT scans are repeated until the doctors can see that the needle is in the mass. A fine-needle biopsy sample (tiny fragment of tissue) or a core needle biopsy sample (a thin cylinder of tissue about one-half inch long and less than 1/8-inch in diameter) is removed and examined under a microscope.
Magnetic resonance imagings (MRI) scan
Not often needed for Esophageal cancer
Positron emission tomography (PET) scan
In this test, radioactive glucose (sugar) is injected into the vein. Because cancers use sugar much faster than normal tissues, the radioactivity will tend to concentrate in the cancer. A scanner is used to spot the radioactive deposits. This test is useful for finding areas of cancer spread. It can help find small collections of cancer cells that may not be seen on other tests.
The uptake of the radioactive glucose ("brightness") may be measured. Studies are being done to see if the degree of uptake or brightness can be used as to tell how fast the tumor is growing. Studies are also looking to see whether changes in the brightness on a PET scan can be used to see whether treatment, such as chemotherapy, is working. Some machines combine a PET scan with a CT scan. This allows any abnormal areas seen on the PET scan to be precisely located on the CT scan. This type of scan may be used to look for areas of cancer spread if nothing is found on other imaging tests.
Endoscopy
Upper endoscopy
An endoscope is a flexible, very narrow tube with a video camera and light on the end. During an upper endoscopy procedure, the patient is sedated and then the endoscope is placed through the mouth and into the esophagus and stomach.
Endoscopy is an important test for diagnosing esophageal cancer. The doctor can see the cancer through the scope and biopsy. If the esophageal cancer is blocking the lumen of the esophagus, then certain instruments can be used to help enlarge the opening to help food and liquid pass. Upper endoscopy can give the surgeon information for follow-up surgery, including the size and spread of the tumor and whether the tumor can be completely removed.
Endoscopic ultrasound
Ultrasound tests use sound waves to take pictures of parts of the body. For an endoscopic ultrasound, the probe that gives off the sound waves is at the end of an endoscope. This allows the probe to get very close to the cancer.
This test is very useful in finding the size of an esophageal cancer and how far it has grown into nearby tissues.
Endoscopic ultrasound can help determine how much of the tissue next to the esophagus (including nearby lymph nodes) is affected by the cancer. This helps surgeons decide which tumors can be surgically removed and which cannot.
Bronchoscopy
This procedure uses an endoscope to look into the trachea and tubes leading from the trachea into the bronchi. Check for metastasis. The patient is sedated for this procedure.
Thoracoscopy and laparoscopy
These procedures allow the doctor to see lymph nodes and other organs near the esophagus inside the chest (by thoracoscopy) or the abdomen (by laparoscopy) through a hollow lighted tube. The surgeon can operate instruments through the tube and remove lymph node samples and take biopsies to see if the cancer has spread. This information is often important in deciding whether or not a person is likely to benefit from surgery. These procedures are done in an operating room and under general anesthesia (the patient is in a deep sleep).
Biopsy
Confirm cancer and staged the cancer
References:
http://www.cancer.org/Cancer/EsophagusCancer/DetailedGuide/esophagus-cancer-diagnosis
http://www.cancer.gov/cancertopics/wyntk/esophagus/page7
Wednesday, August 11, 2010
My Part
Irritable Bowel Syndrome
Irritable bowel syndrome has been called spastic colon, functional bowel disease, and mucous colitis. However, IBS is not a true "colitis." The term colitis refers to a separate condition known as inflammatory bowel disease (IBD).
Irritable bowel syndrome (IBS or spastic colon) is a diagnosis of exclusion. It is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. Diarrhea or constipation may predominate, or they may alternate (classified as IBS-D, IBS-C or IBS-A, respectively). IBS may begin after an infection (post-infectious, IBS-PI), a stressful life event, or onset of maturity without any other medical indicators.
Irritable bowel syndrome is not contagious, inherited, or cancerous.
Fortunately, unlike more-serious intestinal diseases such as ulcerative colitis and Crohn's disease, irritable bowel syndrome doesn't cause inflammation or changes in bowel tissue or increase your risk of colorectal cancer. However, IBS often disrupts daily living activities.
IBS is considered a functional disorder in that diagnostic testing does not show any visible disease process. To determine whether a person is just having temporary digestive distress or if he does have IBS, doctors use a standard called the Rome III criteria. According to these criteria, IBS can only be diagnosed if symptoms have been present for at least six months. Symptoms must have been experienced on at least three days of at least three months. Specifically, symptoms must consist of recurrent abdominal pain or discomfort with two or more of the following:
• Pain is relieved by a bowel movement
• Onset of pain is related to a change in frequency of stool
• Onset of pain is related to a change in the appearance of stool
Symptoms
The signs and symptoms of irritable bowel syndrome can vary widely from person to person and often resemble those of other diseases. Among the most common are:
• Abdominal pain or cramping
• A bloated feeling
• Gas (flatulence)
• Diarrhea or constipation — sometimes alternating bouts of constipation and diarrhea
• Mucus in the stool
Red-flag IBS Symptoms
IBS symptoms can be so severe and disruptive that sufferers frequently worry about misdiagnosis and that their doctor has overlooked a more serious disorder. The following list describes symptoms that are NOT typical of IBS and would warrant further investigation:
• fever
• vomiting
• blood in the stool (may be only from hemorrhoids, but MUST be brought to the attention of a qualified physician)
• significant and unexplained weight loss
• anemia
• abdominal pain and cramping not relieved by a bowel movement
• abdominal pain and cramping which awakes the sufferer from sleep
• poor appetite (not caused by a fear of eating trigger foods)
• fatigue
Epidemiology
IBS affects 10% to 15% of the US population. However, published prevalence rates are likely underestimates because only 25% to 30% of patients with IBS symptoms seek medical attention, probably because of fear, embarrassment, mild symptoms, or the misperception that no effective treatments are available. This is illustrated in a study by Mearin and colleagues,[8] who found that IBS symptoms were unstable over time, with the greatest instability among those with irritable bowel syndrome with constipation (IBS-C) and IBS-diarrhea (D) subtypes; only 46% and 51% remained in the same subgroup during the study, with the remaining switching to the IBS-A subtype. Although there may be a consistent number of people with a certain subtype overall, there is continual movement of patients from one subtype to another; an exception is IBS-C to IBS-D and visa versa, which is rare.
Although IBS affects men and women, a woman-to-man ratio of 2:1 exists in the United States. The gap widens considerably in tertiary care settings, with women outnumbering men by 3:1. Most people seeking medical attention for IBS symptoms for the first time are 30-50 years old. The prevalence of IBS declines after age 60. In fact, the onset of IBS after age 40 is unusual, unless it is caused by infection, medication, trauma, or cholecystectomy.
Nineteen percent of respondents in a survey of married or cohabiting people with IBS stated that they had difficulties in their personal relationships, and 45% stated that IBS interfered with their sex life.
Like many people, you may have only mild signs and symptoms of irritable bowel syndrome. However, sometimes these problems can be disabling. In some cases, you may have severe signs and symptoms that don't respond well to medical treatment. Because symptoms of irritable bowel syndrome can occur with other diseases, it's best to discuss these symptoms with your doctor.
For most people, IBS is a chronic condition, although there will likely be times when the signs and symptoms are worse and times when they improve or even disappear completely.
DIFFERENTIAL DIAGNOSIS OF Iron Deficency Anemia
IDA is classically described as a microcytic anemia. The differential diagnosis for microcytic anemia includes iron deficiency, thalassemia, sideroblastic anemias, some types of anemia of chronic disease, and lead poisoning (rare in adults). Patients with sideroblastic anemia will have almost complete saturation of the serum transfer-rin, which can differentiate them from patients with iron deficiency. Differentiating between iron deficiency and anemia of chronic disease can sometimes be difficult, especially in early iron deficiency or when the conditions coexist. Patients with lead poisoning will have characteristic signs and symptoms of lead poisoning.
Irritable bowel syndrome has been called spastic colon, functional bowel disease, and mucous colitis. However, IBS is not a true "colitis." The term colitis refers to a separate condition known as inflammatory bowel disease (IBD).
Irritable bowel syndrome (IBS or spastic colon) is a diagnosis of exclusion. It is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. Diarrhea or constipation may predominate, or they may alternate (classified as IBS-D, IBS-C or IBS-A, respectively). IBS may begin after an infection (post-infectious, IBS-PI), a stressful life event, or onset of maturity without any other medical indicators.
Irritable bowel syndrome is not contagious, inherited, or cancerous.
Fortunately, unlike more-serious intestinal diseases such as ulcerative colitis and Crohn's disease, irritable bowel syndrome doesn't cause inflammation or changes in bowel tissue or increase your risk of colorectal cancer. However, IBS often disrupts daily living activities.
IBS is considered a functional disorder in that diagnostic testing does not show any visible disease process. To determine whether a person is just having temporary digestive distress or if he does have IBS, doctors use a standard called the Rome III criteria. According to these criteria, IBS can only be diagnosed if symptoms have been present for at least six months. Symptoms must have been experienced on at least three days of at least three months. Specifically, symptoms must consist of recurrent abdominal pain or discomfort with two or more of the following:
• Pain is relieved by a bowel movement
• Onset of pain is related to a change in frequency of stool
• Onset of pain is related to a change in the appearance of stool
Symptoms
The signs and symptoms of irritable bowel syndrome can vary widely from person to person and often resemble those of other diseases. Among the most common are:
• Abdominal pain or cramping
• A bloated feeling
• Gas (flatulence)
• Diarrhea or constipation — sometimes alternating bouts of constipation and diarrhea
• Mucus in the stool
Red-flag IBS Symptoms
IBS symptoms can be so severe and disruptive that sufferers frequently worry about misdiagnosis and that their doctor has overlooked a more serious disorder. The following list describes symptoms that are NOT typical of IBS and would warrant further investigation:
• fever
• vomiting
• blood in the stool (may be only from hemorrhoids, but MUST be brought to the attention of a qualified physician)
• significant and unexplained weight loss
• anemia
• abdominal pain and cramping not relieved by a bowel movement
• abdominal pain and cramping which awakes the sufferer from sleep
• poor appetite (not caused by a fear of eating trigger foods)
• fatigue
Epidemiology
IBS affects 10% to 15% of the US population. However, published prevalence rates are likely underestimates because only 25% to 30% of patients with IBS symptoms seek medical attention, probably because of fear, embarrassment, mild symptoms, or the misperception that no effective treatments are available. This is illustrated in a study by Mearin and colleagues,[8] who found that IBS symptoms were unstable over time, with the greatest instability among those with irritable bowel syndrome with constipation (IBS-C) and IBS-diarrhea (D) subtypes; only 46% and 51% remained in the same subgroup during the study, with the remaining switching to the IBS-A subtype. Although there may be a consistent number of people with a certain subtype overall, there is continual movement of patients from one subtype to another; an exception is IBS-C to IBS-D and visa versa, which is rare.
Although IBS affects men and women, a woman-to-man ratio of 2:1 exists in the United States. The gap widens considerably in tertiary care settings, with women outnumbering men by 3:1. Most people seeking medical attention for IBS symptoms for the first time are 30-50 years old. The prevalence of IBS declines after age 60. In fact, the onset of IBS after age 40 is unusual, unless it is caused by infection, medication, trauma, or cholecystectomy.
Nineteen percent of respondents in a survey of married or cohabiting people with IBS stated that they had difficulties in their personal relationships, and 45% stated that IBS interfered with their sex life.
Like many people, you may have only mild signs and symptoms of irritable bowel syndrome. However, sometimes these problems can be disabling. In some cases, you may have severe signs and symptoms that don't respond well to medical treatment. Because symptoms of irritable bowel syndrome can occur with other diseases, it's best to discuss these symptoms with your doctor.
For most people, IBS is a chronic condition, although there will likely be times when the signs and symptoms are worse and times when they improve or even disappear completely.
DIFFERENTIAL DIAGNOSIS OF Iron Deficency Anemia
IDA is classically described as a microcytic anemia. The differential diagnosis for microcytic anemia includes iron deficiency, thalassemia, sideroblastic anemias, some types of anemia of chronic disease, and lead poisoning (rare in adults). Patients with sideroblastic anemia will have almost complete saturation of the serum transfer-rin, which can differentiate them from patients with iron deficiency. Differentiating between iron deficiency and anemia of chronic disease can sometimes be difficult, especially in early iron deficiency or when the conditions coexist. Patients with lead poisoning will have characteristic signs and symptoms of lead poisoning.
Investigation and Treatment of Irritable Bowel Syndrome
PCL
Investigation
• It is a diagnosis of exclusion
• Rome III [2006]criteria
o Recurrent abdominal pain or discomfort at least 3 days/month in the last 3 months associated with two or more of the following:
Improvement with defecation
Onset associated with changes in frequency of stool
Onset associated with changes in form (appearance) of stool
o Criterion fulfilled for the last 3 months with symptoms onset at least 6 months prior diagnosis
• Manning’s Criteria
o Onset of pain linked to more frequent bowel movements
o Looser stools associated with onset of pain
o Pain relieved by passage of stool
o Noticeable abdominal bloating
o Sensation of incomplete evacuation more than 25% of the time
o Diarrhea with mucus more than 25% of the time
• Full blood count, X-ray, Colonoscopy, Gastroscopy, Sigmoidoscopy, CT, MRI. Important to note patients’ age and risk factors for differential diagnosis.
• Infectious diseases, Coeliac disease, Helicobacter pylori and Inflammatory bowel diesease
Treatment Options
• Diet
o Lactose intolerance – lactose free diet
o Fructose malabsoption – Restrict fructose and fructan intake
o Over eating or drinking may provoke gastrocolic response due to heightened sensitivity.
o Fibre – soluble fibre [psyllium] is found to be effective in the general IBS population especially to those who have constipation that is predominant of irritable bowel. However, it doesn’t reduce pain.
• Medication
o Antispasmodic [anticholinergic - hysocyamine or dicyclomine]
Patients with cramps or diarrhea
o Stool softener or Laxatives
Osmotic [Polyethylene glycol]
Stimulant - Cathartic colon
Lubiprostone is also a drug that helps chronic idiopathic constipation
o Antidiarrheals
Opiate or Opioid analogs such as loperamide and diphenoxylate
o Serotonin - Improves gut motility
Agonist [Tegaserod, SSRI] improves constipation predominant pain/diarrhea
Antagonist [Alosetron] improves pain/diarrhea predominant constipation
o Tricyclic antidepressants
Low dose can be effective
o Antibiotic
Rifaximin can be used for bloating and flatulence, suggesting bacterial overgrowth
• Psychotherapy
o Brain-gut
o Cognitive behavioural therapy and hypnosis
• Alternative medicine
o Probiotics - Yogurt
o Yoga
o Herbal remedies
o Accupuncture
Investigation
• It is a diagnosis of exclusion
• Rome III [2006]criteria
o Recurrent abdominal pain or discomfort at least 3 days/month in the last 3 months associated with two or more of the following:
Improvement with defecation
Onset associated with changes in frequency of stool
Onset associated with changes in form (appearance) of stool
o Criterion fulfilled for the last 3 months with symptoms onset at least 6 months prior diagnosis
• Manning’s Criteria
o Onset of pain linked to more frequent bowel movements
o Looser stools associated with onset of pain
o Pain relieved by passage of stool
o Noticeable abdominal bloating
o Sensation of incomplete evacuation more than 25% of the time
o Diarrhea with mucus more than 25% of the time
• Full blood count, X-ray, Colonoscopy, Gastroscopy, Sigmoidoscopy, CT, MRI. Important to note patients’ age and risk factors for differential diagnosis.
• Infectious diseases, Coeliac disease, Helicobacter pylori and Inflammatory bowel diesease
Treatment Options
• Diet
o Lactose intolerance – lactose free diet
o Fructose malabsoption – Restrict fructose and fructan intake
o Over eating or drinking may provoke gastrocolic response due to heightened sensitivity.
o Fibre – soluble fibre [psyllium] is found to be effective in the general IBS population especially to those who have constipation that is predominant of irritable bowel. However, it doesn’t reduce pain.
• Medication
o Antispasmodic [anticholinergic - hysocyamine or dicyclomine]
Patients with cramps or diarrhea
o Stool softener or Laxatives
Osmotic [Polyethylene glycol]
Stimulant - Cathartic colon
Lubiprostone is also a drug that helps chronic idiopathic constipation
o Antidiarrheals
Opiate or Opioid analogs such as loperamide and diphenoxylate
o Serotonin - Improves gut motility
Agonist [Tegaserod, SSRI] improves constipation predominant pain/diarrhea
Antagonist [Alosetron] improves pain/diarrhea predominant constipation
o Tricyclic antidepressants
Low dose can be effective
o Antibiotic
Rifaximin can be used for bloating and flatulence, suggesting bacterial overgrowth
• Psychotherapy
o Brain-gut
o Cognitive behavioural therapy and hypnosis
• Alternative medicine
o Probiotics - Yogurt
o Yoga
o Herbal remedies
o Accupuncture
Complications & Prognosis of Coeliac Disease! :(
1. Malabsorption
Small intestine is responsible for absorption of nutrients mainly Vit B12, iron, Vit K, Calcium and Vit D. As small bowel is inflamed, vital nutrients are lost in stools rather than absorbed in blood stream, leading to deficiency in vitamins and minerals.
2. Lactose Intolerance
Lactase enzyme is synthesise in cells lining the villi and is responsible for digesting lactose. As villi shrink and damaged in celiac disease, patients will face problems with digesting lactose. It will heal off once they start on gluten-free diet.
3. Cancer
Untreated celiac disease has shown to lead to lymphoma (enteropathy associated T cell lymphoma with poor prognosis) and adenocarcinoma of esophagus, pancreas, small and large intestine and hepatobiliary tract even though it is rare. Symptoms of small intestinal lymphoma include anemia, bleeding into intestine, abd pain, weight loss, fever and small intestine obstruction. Often difficult to diagnose.
4. Miscarriage and congenital malformation of unborn baby
Pregnant women do not realize they have celiac disease or do not follow gluten free diet if they have it have nutrient absorption problems that can lead to miscarriage and congenital malformations such as neural tube defects (Folate deficiency).
5. Ulcerative jejunoileitis
Rare complication of celiac disease. Recurrent episodes of small intestines insult leading to formation of strictures. Symptoms of jejunoileitis can be intestinal bleeding, weight loss, abd pain and intestinal obstruction. Individuals with ulcerative jejunoileitis are at high risk of developing intestinal lymphomas.
6. Refractory Celiac Disease
Rare condition which symptoms of celiac disease despite strict adherence to gluten-free diet. Occurs in approximately 5% of patients. Subdivided into 2 types: type 1 is characterized by normal intraepithelial lymphocytes phenotype and type 2 is characterized with increase number of intraepithelial lymphocytes, due to increase in epithelial interleukin 15 expression.
7. Collagenous Celiac Disease
Have symptoms of celiac disease but fail to improve on gluten-free diet. Large amount of collagen forms under intestinal lining after several years and prognosis is poor.
Tuesday, August 10, 2010
IBS: Prognosis and Complications
PROGNOSIS
• Men have a better prognosis for IBS than do women, and men tended to have fewer return visits for IBS-related symptoms than did women.
• Life expectancy remains similar to that of the general population
• With treatment, 85% of patients were rendered virtually symptom-free in the short term, and 68% were still virtually symptom-free 5 years later.
• The response to treatment was better in men than in women, in those with constipation than with diarrhoea, when the symptoms had initially been triggered by an episode of acute diarrhoea, and in patients with a relatively short history. With a few simple investigations, sympathetic explanation, and appropriate treatment, most patients with IBS have a good prognosis.
Complications
• A chronic relapsing condition
• Physical
o Does not increase the mortality or the risk of inflammatory bowel disease or cancer
o Abdominal pain and lifestyle modifications secondary to altered bowel habits
o Diarrhea and constipation, both signs of irritable bowel syndrome, can aggravate haemorrhoids
o Avoidance of certain foods may lead to malnourishment
o No increased risk of developing an organic pathology exists in patients with irritable bowel syndrome
• Psychological
o May experience feelings of depression and anxiety
o May have suicidal ideation and/or suicide attempts
• Social
o May lead to avoidance of social engagements, make sexual activity unappealing or even painful
o Finding access to toilets may be an issue, therefore some are afraid to visit public places
o Work absenteeism resulting in lost wages
http://www.annals.org/content/122/2/107.full
http://emedicine.medscape.com/article
http://www.ncbi.nlm.nih.gov/pubmed/2882351
http://www.mayoclinic.com/health/irritable-bowel-syndrome/DS00106/DSECTION=complications
http://www.nhs.uk/Conditions/Irritable-bowel-syndrome/Pages/Complications.aspx
• Men have a better prognosis for IBS than do women, and men tended to have fewer return visits for IBS-related symptoms than did women.
• Life expectancy remains similar to that of the general population
• With treatment, 85% of patients were rendered virtually symptom-free in the short term, and 68% were still virtually symptom-free 5 years later.
• The response to treatment was better in men than in women, in those with constipation than with diarrhoea, when the symptoms had initially been triggered by an episode of acute diarrhoea, and in patients with a relatively short history. With a few simple investigations, sympathetic explanation, and appropriate treatment, most patients with IBS have a good prognosis.
Complications
• A chronic relapsing condition
• Physical
o Does not increase the mortality or the risk of inflammatory bowel disease or cancer
o Abdominal pain and lifestyle modifications secondary to altered bowel habits
o Diarrhea and constipation, both signs of irritable bowel syndrome, can aggravate haemorrhoids
o Avoidance of certain foods may lead to malnourishment
o No increased risk of developing an organic pathology exists in patients with irritable bowel syndrome
• Psychological
o May experience feelings of depression and anxiety
o May have suicidal ideation and/or suicide attempts
• Social
o May lead to avoidance of social engagements, make sexual activity unappealing or even painful
o Finding access to toilets may be an issue, therefore some are afraid to visit public places
o Work absenteeism resulting in lost wages
http://www.annals.org/content/122/2/107.full
http://emedicine.medscape.com/article
http://www.ncbi.nlm.nih.gov/pubmed/2882351
http://www.mayoclinic.com/health/irritable-bowel-syndrome/DS00106/DSECTION=complications
http://www.nhs.uk/Conditions/Irritable-bowel-syndrome/Pages/Complications.aspx
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