Hepatitis E
Hepatitis E virus, or HEV, is similar to hepatitis A virus in mode of transmission and the duration of the disease, although it tends to occur as part of large water- or food-borne epidemics. HEV spreads through contact with food or water contaminated by feces from an infected person. Rare in the U.S., the infection usually clears up after several weeks to a few months. At risk are international travelers, people living in areas where HEV outbreaks are common and people who have sex or live with an infected person. Pregnant women infected with HEV have a 20 percent risk of dying. To limit risk of HEV exposure, avoid tap water when traveling internationally and practice good hygiene and sanitation.
Blood pressure is the amount of force your blood exerts against the walls of your arteries. Normal blood pressure effectively and harmlessly pushes the blood from your heart to your body's organs and muscles so they can receive the oxygen and nutrients they need.
Blood pressure is variable -- it rises and falls during the day. When blood pressure stays elevated over time, however, it is called high blood pressure or hypertension.
According to the most recent estimates, up to 65 million Americans have hypertension, or high blood pressure, and nearly half are women, according to the American Heart Association. High blood pressure killed nearly 50,000 Americans in 2002, and was listed as a primary or contributing factor in 261,000 deaths.
Hypertension can occur in both children and adults, but it is more common in adults, particularly African Americans, overweight people, people who drink heavily (defined as more than two drinks a day for men and one drink a day for women), elderly and middle-aged people and women who are taking oral contraceptives. Additionally, people with diabetes, kidney disease or gout have a higher risk of hypertension. Overall, one in three American adults has hypertension.
More men than women have hypertension, until women reach menopause, when their risk becomes greater than men's s. About half of the 65 million Americans with high blood pressure are women About 20 percent of white women and 30 to 40 percent of African-American women have high blood pressure, and the prevalence rises to 80 percent in women over age 70.
Blood pressure is typically expressed as two numbers, one over the other, and is measured in millimeters of mercury (noted as mmHg). The first number is the systolic systolic blood pressure, the pressure used when the heart beats. The second number, or diastolic blood pressure, is the pressure that exists in the arteries between heartbeats.
Depending on your activities, your blood pressure may increase or decrease throughout the day. If you are not acutely ill, are over 18 years of age, and are not taking antihypertensive drugs, a blood pressure reading of less than 120 mmHg systolic and less than 80 mmHg diastolic (120/80) is considered normal.
If your blood pressure is between 120/80 mmHg and 139/89 mmHg, you havprehypertension. This means that you don't have high blood pressure now but are more likely to develop it in the future, and you have increased risk factors for cardiovascular disease and other conditions related to hypertension.
A blood pressure level of 140/90 mmHg or higher is considered high.
You may also have hypertension if either your systolic or diastolic is greater than or equal to 140 or 90 mmHg, respectively. That is, you can have isolated systolic or diastolic hypertension. Isolated systolic hypertension (ISH) This is the most common form of high blood pressure in older Americans. The National Heart, Lung and Blood Institute (NHLBI) estimates that 65 percent of people with hypertension over age 60 have ISH.
The cause of approximately 90 to 95 percent of all hypertension isn't known. This type of hypertension is called primary or essential high blood pressure. When the cause is known, it's called secondary hypertension. While there is no cure for hypertension, it is easily detected and is usually controllable.
Still, nearly one third of those who suffer from high blood pressure don't know they have it, and people can have high blood pressure for years without knowing they have it. That's why high blood pressure has been called "the silent killer."
Of those with hypertension, only 34 percent have the problem under control, defined as a level below 140/90 mm/Hg. Left untreated, hypertension can result in permanent damage to the small blood vessels of the body, which can damage vital organs and increase the risk of heart attack and stroke. It can also cause acute or chronic circulatory problems.
Even slightly elevated blood pressure levels can double your risk for coronary heart disease. In fact, recent studies show that in adults ages 40–89, the risk of death from heart disease and stroke begins to rise at blood pressures as low as 115/75. This risk doubles for each increased increment of 20 mm/Hg in systolic blood pressure or 10 mm/Hg in diastolic blood pressure. Consistent high blood pressure also increases your risk for congestive heart failure, and can lead to other problems such as:
Atherosclerosis: Plaque collects on the walls of hypertension-damaged blood vessels, which can eventually lead to blockages that may result in a stroke or heart attack. Although this plaque builds up for many reasons as you age, high blood pressure hastens the process.
Eye damage: High pressure in blood vessels can cause tiny hemorrhages in the retina, the light-sensitive membrane in the back of your eye on which images are formed. If this happens, you may lose some of your vision.
Heart enlargement or failure: There are two types of heart failure. In the first, the walls of the heart are weak and thin as a result of being stretched by increasing amounts of pooling blood in the heart. In the second, commonly seen in people with hypertension, the heart muscle enlarges in response to the higher pressure and increased workload. It becomes so big it begins to close off the ventricular chamber, decreasing the amount of blood that can fill the heart. This is called diastolic dysfunction, because the heart muscle can't relax normally and allow blood to fill the chamber.
Kidney damage and failure: Hypertension causes arteries going to your kidneys to become constricted, making them less efficient at filtering waste from your body. About 25 percent of people who require kidney dialysis have kidney failure due to hypertension. This is especially true in African Americans. Early treatment of hypertension can help prevent kidney damage.
You should have your blood pressure checked whenever you see a health care professional. Because blood pressure can be variable, it should be checked on several different days before a high blood pressure diagnosis is made. One elevated blood pressure reading doesn't necessarily mean you have high blood pressure, but it does warrant repeated measurement and means you have to watch your blood pressure carefully.
Dietary and lifestyle changes may help you control high blood pressure. If you have mild hypertension, you may be able to lower your blood pressure by reducing the amount of sodium (salt) in your diet, reducing fat intake, eating a diet high in fruits, vegetables and low-fat dairy (the DASH diet), and reducing alcohol consumption. If you are overweight, losing weight may reduce your blood pressure. Increasing your physical activity, even if you don't lose weight, can also reduce blood pressure.
For some people, lifestyle changes aren't enough to lower blood pressure. Luckily, high blood pressure can be treated very successfully with long-term medication.
Commonly prescribed drugs include diuretics, beta-blockers, angiotension inhibitors (ACEIs), calcium angiotensin blockers (AGBs), calcium channel blockers (CCBs). Because there is no cure for most hypertension cases, treatment generally must be carried out for life to prevent blood pressure from rising again.
Many of these drugs are also available to treat isolated systolic hypertension (ISH) to reduce your risk of coronary heart disease and stroke.
Causes of Hypertension
The 90 to 95 percent of hypertension cases in which the cause can't be determined are called essential or primary hypertension cases. Hypertension may also be a symptom of an identified problem (see below) that generally corrects itself when the identified cause is corrected. This type of high blood pressure is called secondary hypertension.
Possible causes of secondary hypertension include:
Any stress, which can be caused by pain, drug or alcohol withdrawal or high emotions
Use of birth control pills
preeclampsia (hypertension and increased urine protein levels sometimes caused by pregnancy)
Renal artery stenosis (narrowing of the arteries leading to your kidneys)
Use of steroids
Adrenal gland disease (Cushing's Disease) or adrenal tumors
Diabetic renal disease
Use of amphetamines, cocaine or other stimulants
Hyperthyroidism
A large intake of licorice root extract (equivalent to 25 to 40 licorice candies a day for several years)
The overuse of nicotine nasal sprays, gum, patches, and lozenges designed to help smokers kick the habit
Your health care professional should monitor your blood pressure if you are taking oral contraceptives. Your blood pressure should also be carefully monitored if you're pregnant, because some women develop pre-eclampsia-related hypertension during pregnancy. One of the leading causes of maternal death, pre-eclampsia is hypertension combined with protein in the urine and/or swollen hands and feet. It typically occurs after the 20th week of pregnancy. It can lead to premature and low-birthweight babies.
Thursday, November 22, 2007
Hepatities B & C
Hepatitis B
Hepatitis B vaccines have been available since 1982 and, as a result, the number of new infections per year has declined from an average of 260,000 in the 1980s to about 78,000 in 2001, according to the CDC. Approximately 1.25 million people are chronically infected with HBV in the U.S., of whom 20 to 30 percent acquired their infection in childhood. Death from chronic liver disease occurs in 15-25 percent of chronically infected persons. One leading mode of transmission is unsafe sex. The virus is also spread by shared needles, from a mother to her newborn, between children in daycare settings, and in health care settings. Screening of blood donors has virtually eliminated transmission via blood transfusion. All pregnant women in the US should be screened for hepatitis B. If infected, the baby will need to receive specific hepatitis B immune globulin and be vaccinated at birth.
Vaccination against hepatitis B is also recommended for:
All children under age 18
Persons with multiple sex partners or diagnosis of a sexually transmitted disease
Men who have sex with men
Sex contacts of infected persons
Injection drug users
Household contacts of chronically infected persons
Infants born to infected mothers
Infants/children of immigrants from areas with high rates of HBV infection
Health care and public safety workers
Hemodialysis patients
Patients with other liver diseases
Hepatitis C
Hepatitis C, or HCV, has been the focus of recent attention because an estimated 3.9 million Americans are believed to have been exposed and 2.7 million are chronically infected. Hepatitis C causes up to 10,000 deaths a year, due to complications of cirrhosis and liver cancer. Treatments are available but they are not effective in all patients. Most infections occurred in the 1970s and 1980s from contaminated blood used during transfusions and from injection drug use. The virus was first identified in 1988 and, in 1989, a reliable test was developed that could identify antibodies to the virus in blood supplies. Today, using more sensitive and specific antibody tests and RNA testing there is less than one case of HCV infection per million units of transfused blood.
HCV poses serious health problems for some people while for others there may be no long-term consequences. Natural history studies suggest that the rate of progression to cirrhosis (scarring of the liver) is highly variable, ranging from 0.5 to 25 percent of patients with chronic disease who have had the infection for 10 to 30 years. Liver cancer develops in approximately 2 percent of cirrhotic patients each year.
Although the annual number of new HCV infections has decreased dramatically-from a high of 240,000 in the 1980s to 25,000 in 2001-most infected people don't know they have the virus. Only recently have health officials made a concerted effort to notify those who received blood or blood products contaminated with HCV before routine screening began.
Testing for hepatitis C by detection of a specific antibody for the virus is recommended for injection drug users, recipients of blood clotting factors, hemodialysis patients, recipients of blood transfusions or solid organ transplants before 1992 and infants born to infected mothers (after 12 to 18 months).
Hepatitis D
Hepatitis D virus, or HDV, is uncommon, except in IV drug users. It can lead to cirrhosis in up to 70 percent of cases, often within a few years. HDV, acquired through contact with infected blood, occurs only in those already infected with hepatitis B. Also at risk are those with HBV who have sex or live with a person infected with HDV. For those not infected with HBV, a vaccine can shield them from
that virus and therefore provide protection against HDV as well.
Hepatitis B vaccines have been available since 1982 and, as a result, the number of new infections per year has declined from an average of 260,000 in the 1980s to about 78,000 in 2001, according to the CDC. Approximately 1.25 million people are chronically infected with HBV in the U.S., of whom 20 to 30 percent acquired their infection in childhood. Death from chronic liver disease occurs in 15-25 percent of chronically infected persons. One leading mode of transmission is unsafe sex. The virus is also spread by shared needles, from a mother to her newborn, between children in daycare settings, and in health care settings. Screening of blood donors has virtually eliminated transmission via blood transfusion. All pregnant women in the US should be screened for hepatitis B. If infected, the baby will need to receive specific hepatitis B immune globulin and be vaccinated at birth.
Vaccination against hepatitis B is also recommended for:
All children under age 18
Persons with multiple sex partners or diagnosis of a sexually transmitted disease
Men who have sex with men
Sex contacts of infected persons
Injection drug users
Household contacts of chronically infected persons
Infants born to infected mothers
Infants/children of immigrants from areas with high rates of HBV infection
Health care and public safety workers
Hemodialysis patients
Patients with other liver diseases
Hepatitis C
Hepatitis C, or HCV, has been the focus of recent attention because an estimated 3.9 million Americans are believed to have been exposed and 2.7 million are chronically infected. Hepatitis C causes up to 10,000 deaths a year, due to complications of cirrhosis and liver cancer. Treatments are available but they are not effective in all patients. Most infections occurred in the 1970s and 1980s from contaminated blood used during transfusions and from injection drug use. The virus was first identified in 1988 and, in 1989, a reliable test was developed that could identify antibodies to the virus in blood supplies. Today, using more sensitive and specific antibody tests and RNA testing there is less than one case of HCV infection per million units of transfused blood.
HCV poses serious health problems for some people while for others there may be no long-term consequences. Natural history studies suggest that the rate of progression to cirrhosis (scarring of the liver) is highly variable, ranging from 0.5 to 25 percent of patients with chronic disease who have had the infection for 10 to 30 years. Liver cancer develops in approximately 2 percent of cirrhotic patients each year.
Although the annual number of new HCV infections has decreased dramatically-from a high of 240,000 in the 1980s to 25,000 in 2001-most infected people don't know they have the virus. Only recently have health officials made a concerted effort to notify those who received blood or blood products contaminated with HCV before routine screening began.
Testing for hepatitis C by detection of a specific antibody for the virus is recommended for injection drug users, recipients of blood clotting factors, hemodialysis patients, recipients of blood transfusions or solid organ transplants before 1992 and infants born to infected mothers (after 12 to 18 months).
Hepatitis D
Hepatitis D virus, or HDV, is uncommon, except in IV drug users. It can lead to cirrhosis in up to 70 percent of cases, often within a few years. HDV, acquired through contact with infected blood, occurs only in those already infected with hepatitis B. Also at risk are those with HBV who have sex or live with a person infected with HDV. For those not infected with HBV, a vaccine can shield them from
that virus and therefore provide protection against HDV as well.
Hepatitis
Hepatitis
You've probably heard warnings about hepatitis, a category of viral infections that can cause serious liver damage and even lead to death. Hepatitis literally means inflammation of the liver (hepa = liver; it is = inflammation).
If you're having trouble keeping up with the alphabet soup of the different types of the virus you're not alone. There are six main types: A, B, C, D, E and G. For the most part, however, you need to concern yourself only with hepatitis A virus, hepatitis B virus and hepatitis C virus-referred to as HAV, HBV and HCV respectively.
The hepatitis viruses all cause acute inflammation of the liver, while some infections related to hepatitis B and C may become chronic. Although many hepatitis infections do not cause symptoms, in those that do, the leading symptoms are:
jaundice (yellowing of the skin and eyes)
fatigue, malaise
abdominal pain
appetite loss
nausea
diarrhea
vomiting
The good news is that vaccines against hepatitis A and hepatitis B have been introduced in the last 20 years. The U.S. Centers for Disease Control and Prevention (CDC) recommends that all children under 18 be vaccinated against hepatitis B (HBV), and that those at risk for either infection get the appropriate vaccination.
Hepatitis A
Hepatitis A, or HAV, causes about one third of all cases of acute hepatitis in the U.S., During epidemic years, the number of reported cases reached 35,000. In the late 1990s, hepatitis A vaccine was more widely used and the number of cases reached historic lows. However, health officials believe it is underreported because people often have no symptoms. HAV infection causes temporary symptoms and is not associated with chronic liver disease. Once you have had HAV you cannot get it again, although about 15 percent of people infected with the virus have prolonged or relapsing symptoms over a six to nine month period, according to the CDC.
HAV receives attention usually because of community outbreaks that result from person-to-person transmission, primarily through daycares and contact with contaminated food or water. In fact, the FDA recently (Nov. 2003) issued a warning advising the public that several recent hepatitis A outbreaks have been associated with eating raw or undercooked green onions (scallions) and offered the following advice to consumers:
Cook green onions thoroughly. This minimizes the risk of illness by reducing or eliminating the virus. Cook in a casserole or sauté in a skillet.
Check food purchased at restaurants and delicatessens and ask whether menu items contain raw or lightly cooked green onions. Consumers who wish to avoid food that contains raw or lightly cooked green onions should specifically request that raw or lightly cooked green onions not be added to their food. Foods such as freshly prepared salsa and green salads often contain raw green onions.
For most women, the biggest risk factors are sexual or household contact with an infected person, or travel to countries where hepatitis A is common. You cannot get the infection through casual contact.
For hepatitis A, vaccination is recommended for the following persons:
Children two years of age and older
Travelers to areas with increased rates of hepatitis A (view map, see below for link)
Men who have sex with men
Injecting and non-injecting drug users
Persons with clotting-factor disorders (e.g., hemophilia)
Persons with chronic liver disease
You've probably heard warnings about hepatitis, a category of viral infections that can cause serious liver damage and even lead to death. Hepatitis literally means inflammation of the liver (hepa = liver; it is = inflammation).
If you're having trouble keeping up with the alphabet soup of the different types of the virus you're not alone. There are six main types: A, B, C, D, E and G. For the most part, however, you need to concern yourself only with hepatitis A virus, hepatitis B virus and hepatitis C virus-referred to as HAV, HBV and HCV respectively.
The hepatitis viruses all cause acute inflammation of the liver, while some infections related to hepatitis B and C may become chronic. Although many hepatitis infections do not cause symptoms, in those that do, the leading symptoms are:
jaundice (yellowing of the skin and eyes)
fatigue, malaise
abdominal pain
appetite loss
nausea
diarrhea
vomiting
The good news is that vaccines against hepatitis A and hepatitis B have been introduced in the last 20 years. The U.S. Centers for Disease Control and Prevention (CDC) recommends that all children under 18 be vaccinated against hepatitis B (HBV), and that those at risk for either infection get the appropriate vaccination.
Hepatitis A
Hepatitis A, or HAV, causes about one third of all cases of acute hepatitis in the U.S., During epidemic years, the number of reported cases reached 35,000. In the late 1990s, hepatitis A vaccine was more widely used and the number of cases reached historic lows. However, health officials believe it is underreported because people often have no symptoms. HAV infection causes temporary symptoms and is not associated with chronic liver disease. Once you have had HAV you cannot get it again, although about 15 percent of people infected with the virus have prolonged or relapsing symptoms over a six to nine month period, according to the CDC.
HAV receives attention usually because of community outbreaks that result from person-to-person transmission, primarily through daycares and contact with contaminated food or water. In fact, the FDA recently (Nov. 2003) issued a warning advising the public that several recent hepatitis A outbreaks have been associated with eating raw or undercooked green onions (scallions) and offered the following advice to consumers:
Cook green onions thoroughly. This minimizes the risk of illness by reducing or eliminating the virus. Cook in a casserole or sauté in a skillet.
Check food purchased at restaurants and delicatessens and ask whether menu items contain raw or lightly cooked green onions. Consumers who wish to avoid food that contains raw or lightly cooked green onions should specifically request that raw or lightly cooked green onions not be added to their food. Foods such as freshly prepared salsa and green salads often contain raw green onions.
For most women, the biggest risk factors are sexual or household contact with an infected person, or travel to countries where hepatitis A is common. You cannot get the infection through casual contact.
For hepatitis A, vaccination is recommended for the following persons:
Children two years of age and older
Travelers to areas with increased rates of hepatitis A (view map, see below for link)
Men who have sex with men
Injecting and non-injecting drug users
Persons with clotting-factor disorders (e.g., hemophilia)
Persons with chronic liver disease
Risk Factors
Risk Factors for Heart Disease
Over the last two decades, researchers have unearthed many risk factors for developing cardiovascular diseases. These include:
Smoking. Smoking accelerates the development of atherosclerosis by constricting blood vessels, accelerating the formation of blood clots and restricting the amount of oxygen the blood supplies. Smokers who have heart attacks and strokes are more likely to die from them.
High cholesterol levels. According to the National Cholesterol Education Program (NCEP), elevated LDL cholesterol is a major cause of coronary heart disease. That's why the NCEP panel recommends aggressive treatment. Treatment may include lifestyle changes, such as exercising more and reducing the amount of saturated fat in your diet, and medication. A combination of approaches is typically recommended.
Optimal cholesterol levels for healthy women are:
Total cholesterol: less than 200 mg/dL
HDL cholesterol: above 60 mg/dL. This range is considered to be protective against heart disease, while levels less than 40 mg/dL are considered a major risk factor for developing heart disease.
LDL cholesterol: less than 100 mg/dL
Triglycerides: less than 150 mg/dL
High blood pressure (hypertension). When the heart works too hard to pump blood through the body, the intensity can damage the walls of the arteries of the heart and body.
A blood pressure reading records a systolic blood pressure—the highest pressure measured when the heart contracts with each beat, and a diastolic blood pressure—the lowest pressure measured in the arteries when the heart relaxes between beats. Optimal blood pressure is less than 120/80mm hg, read "120 over 80." Hypertension—high blood pressure—is defined as systolic pressure greater than or equal to 140 mm hg or diastolic pressure greater than or equal to 90 mm hg.
There is another category called "prehypertension" you should be aware of. This designation is made when the systolic pressure is 120 to139, or diastolic pressure is 80 to 89, and means you have a significant risk of developing high blood pressure, or hypertension.
Diabetes. Having diabetes poses as great a risk for having a heart attack in 10 years as heart disease itself, according to NHLBI. In fact, cardiovascular disease is the leading cause of diabetes-related deaths. People with diabetes who have not yet had a heart attack have the same risk of future heart attack as someone with known coronary heart disease. Because their risk of heart attack is so high, NHLBI recommends that people with diabetes be treated aggressively with LDL-cholesterol lowering medication and carefully manage their blood sugar to reduce their cardiovascular risk.
Age. Generally, women over age 55 and men over age 45 are at greatest risk for developing atherosclerosis. The risk of cardiovascular events increases with age.
Family history. Family history is one of the biggest risk factors overall for atherosclerosis. Your risk is greater if your father or brother was diagnosed before age 55, if your mother or sister was diagnosed before age 65, or if you have a sibling with early coronary disease.
Obesity. Overweight women are much more likely to develop heart-related problems, even if they have no other risk factors. Excess body weight in women is linked with coronary heart disease, stroke, congestive heart failure and death from heart-related causes.
Inactivity. Not exercising contributes directly to heart-related problems and increases the likelihood that you'll develop other risk factors, such as high blood pressure and diabetes.
Metabolic syndrome. This deadly quartet of abdominal obesity, high blood pressure, glucose intolerance (or pre-diabetes) and abnormal cholesterol is associated with a markedly increased risk of cardiovascular disease.
Homocysteine. Homocysteine is an amino acid normally found in the body. Studies suggest that high blood levels of this substance may increase the risk of heart disease, stroke and peripheral vascular disease.
C-Reactive protein (CRP), a high blood level of CRP, a sign of inflammation, may mean that the walls of the arteries in your heart are inflamed, which may raise your heart disease risk.
A blood test called the high sensitivity C-reactive protein blood test (hs-CRP) is now widely available. Most studies show that in healthy people, the higher the hs-CRP levels, the higher the risk of developing a future heart attack. In fact, scientific studies have found that the risk for heart attack in people in the upper third of hs-CRP levels is twice that of those with hs-CRP levels in the lower third. Recent studies also found a link between hs-CRP to sudden cardiac death and peripheral arterial disease.
According to the American Heart Association, numerous studies have examined whether hs-CRP can predict recurrent cardiovascular disease and stroke and death in various settings. High levels of hs-CRP consistently predict new coronary events in people with unstable angina and acute myocardial infarction (heart attack). Higher hs-CRP levels are also associated with lower survival rate in these people. Many studies suggested that after adjusting for other prognostic factors, hs-CRP was still useful as a risk predictor.
It is not yet known whether specific interventions will benefit those who have high hs-CRP, however aspirin therapy and cholesterol-lowering drugs might be helpful in these individuals.
The American Heart Association and the U.S. Centers for Disease Control and Prevention issued new guidelines for the blood test in January 2003. The guidelines recommend limiting the use of the CRP test as a discretionary tool for evaluating people of moderate risk, and not as a means of screening the entire adult population, as insufficient scientific evidence supports widespread use at this time.
Stress. Although stress has been implicated in the development of atherosclerosis, its exact relationship to heart disease has not been determined. Regular exercise can reduce stress and improve your mood.
Postmenopausal status. Your risk of developing atherosclerosis and heart disease increases once you reach menopause. Prior to menopause, women are mainly protected from heart disease by estrogen, the reproductive hormone produced by the ovaries. Among its many roles, estrogen helps keep arteries free from plaque by improving the ratio of LDL (low-density lipoprotein) and HDL (high-density lipoprotein) cholesterol. It also increases the amount of HDL cholesterol, which helps clear arteries of LDL cholesterol—the kind that most contributes to plaque build up.
Over the last two decades, researchers have unearthed many risk factors for developing cardiovascular diseases. These include:
Smoking. Smoking accelerates the development of atherosclerosis by constricting blood vessels, accelerating the formation of blood clots and restricting the amount of oxygen the blood supplies. Smokers who have heart attacks and strokes are more likely to die from them.
High cholesterol levels. According to the National Cholesterol Education Program (NCEP), elevated LDL cholesterol is a major cause of coronary heart disease. That's why the NCEP panel recommends aggressive treatment. Treatment may include lifestyle changes, such as exercising more and reducing the amount of saturated fat in your diet, and medication. A combination of approaches is typically recommended.
Optimal cholesterol levels for healthy women are:
Total cholesterol: less than 200 mg/dL
HDL cholesterol: above 60 mg/dL. This range is considered to be protective against heart disease, while levels less than 40 mg/dL are considered a major risk factor for developing heart disease.
LDL cholesterol: less than 100 mg/dL
Triglycerides: less than 150 mg/dL
High blood pressure (hypertension). When the heart works too hard to pump blood through the body, the intensity can damage the walls of the arteries of the heart and body.
A blood pressure reading records a systolic blood pressure—the highest pressure measured when the heart contracts with each beat, and a diastolic blood pressure—the lowest pressure measured in the arteries when the heart relaxes between beats. Optimal blood pressure is less than 120/80mm hg, read "120 over 80." Hypertension—high blood pressure—is defined as systolic pressure greater than or equal to 140 mm hg or diastolic pressure greater than or equal to 90 mm hg.
There is another category called "prehypertension" you should be aware of. This designation is made when the systolic pressure is 120 to139, or diastolic pressure is 80 to 89, and means you have a significant risk of developing high blood pressure, or hypertension.
Diabetes. Having diabetes poses as great a risk for having a heart attack in 10 years as heart disease itself, according to NHLBI. In fact, cardiovascular disease is the leading cause of diabetes-related deaths. People with diabetes who have not yet had a heart attack have the same risk of future heart attack as someone with known coronary heart disease. Because their risk of heart attack is so high, NHLBI recommends that people with diabetes be treated aggressively with LDL-cholesterol lowering medication and carefully manage their blood sugar to reduce their cardiovascular risk.
Age. Generally, women over age 55 and men over age 45 are at greatest risk for developing atherosclerosis. The risk of cardiovascular events increases with age.
Family history. Family history is one of the biggest risk factors overall for atherosclerosis. Your risk is greater if your father or brother was diagnosed before age 55, if your mother or sister was diagnosed before age 65, or if you have a sibling with early coronary disease.
Obesity. Overweight women are much more likely to develop heart-related problems, even if they have no other risk factors. Excess body weight in women is linked with coronary heart disease, stroke, congestive heart failure and death from heart-related causes.
Inactivity. Not exercising contributes directly to heart-related problems and increases the likelihood that you'll develop other risk factors, such as high blood pressure and diabetes.
Metabolic syndrome. This deadly quartet of abdominal obesity, high blood pressure, glucose intolerance (or pre-diabetes) and abnormal cholesterol is associated with a markedly increased risk of cardiovascular disease.
Homocysteine. Homocysteine is an amino acid normally found in the body. Studies suggest that high blood levels of this substance may increase the risk of heart disease, stroke and peripheral vascular disease.
C-Reactive protein (CRP), a high blood level of CRP, a sign of inflammation, may mean that the walls of the arteries in your heart are inflamed, which may raise your heart disease risk.
A blood test called the high sensitivity C-reactive protein blood test (hs-CRP) is now widely available. Most studies show that in healthy people, the higher the hs-CRP levels, the higher the risk of developing a future heart attack. In fact, scientific studies have found that the risk for heart attack in people in the upper third of hs-CRP levels is twice that of those with hs-CRP levels in the lower third. Recent studies also found a link between hs-CRP to sudden cardiac death and peripheral arterial disease.
According to the American Heart Association, numerous studies have examined whether hs-CRP can predict recurrent cardiovascular disease and stroke and death in various settings. High levels of hs-CRP consistently predict new coronary events in people with unstable angina and acute myocardial infarction (heart attack). Higher hs-CRP levels are also associated with lower survival rate in these people. Many studies suggested that after adjusting for other prognostic factors, hs-CRP was still useful as a risk predictor.
It is not yet known whether specific interventions will benefit those who have high hs-CRP, however aspirin therapy and cholesterol-lowering drugs might be helpful in these individuals.
The American Heart Association and the U.S. Centers for Disease Control and Prevention issued new guidelines for the blood test in January 2003. The guidelines recommend limiting the use of the CRP test as a discretionary tool for evaluating people of moderate risk, and not as a means of screening the entire adult population, as insufficient scientific evidence supports widespread use at this time.
Stress. Although stress has been implicated in the development of atherosclerosis, its exact relationship to heart disease has not been determined. Regular exercise can reduce stress and improve your mood.
Postmenopausal status. Your risk of developing atherosclerosis and heart disease increases once you reach menopause. Prior to menopause, women are mainly protected from heart disease by estrogen, the reproductive hormone produced by the ovaries. Among its many roles, estrogen helps keep arteries free from plaque by improving the ratio of LDL (low-density lipoprotein) and HDL (high-density lipoprotein) cholesterol. It also increases the amount of HDL cholesterol, which helps clear arteries of LDL cholesterol—the kind that most contributes to plaque build up.
Glaucoma forms
There are several forms of glaucoma, including the following:
Open-angle. In this most common form of glaucoma, the angle where the cornea and the iris meet is open, but the aqueous humor fluid passes too slowly through the meshwork drain. As a result, the pressure in the eye gradually increases, compressing cells in the optic nerve. If left untreated, the compression eventually will cause the optic nerve cells to die, producing blindness.
Open-angle glaucoma occurs in about one percent of all Americans age 50 and older, according to the Glaucoma Foundation. This type of glaucoma is the leading cause of blindness among African Americans, occurring six to eight more times more often, and at earlier ages than in Caucasians, reports the American Academy of Ophthalmology. Early detection is essential to managing open-angle glaucoma and minimizing vision loss. Treatments include medications in the form of eye drops and pills to reduce the amount of aqueous humor in the eye or improve its drainage, both of which help reduce intraocular pressure. Surgery, either by using a laser or by conventional means, also may be recommended.
Angle-closure. This type of glaucoma affects nearly 500,000 people in the U.S. according to the Glaucoma Foundation. It occurs when the angle between the iris and the cornea is closed, and the aqueous humor cannot drain, producing high eye pressure. This form of glaucoma is more common among people of Asian or Eskimo descent, especially older women. Other risk factors include old age, a family history of the condition and farsightedness.
Angle-closure glaucoma occurs in two forms, acute and chronic. The acute version can be a sudden, painful attack requiring emergency treatment. The chronic version occurs over time, producing no recognizable symptoms before vision is lost.
People with angle-closure glaucoma tend to have a smaller-than-average anterior chamber, and the angle between the iris and the cornea where the aqueous humor drains is also smaller. When the lens naturally grows larger with advancing age, the aqueous humor has difficulty flowing in the tight space, causing the fluid to build up behind the iris, narrowing the angle even more. When the pupil dilates, such as when entering a dark room, or when experiencing anxiety or stress, the angle narrows even further, and the iris is forced against the trabecular meshwork, stopping drainage. Without drainage, pressure in the eye squeezes and damages the optic nerve.
In acute angle-closure glaucoma, intraocular pressure rises suddenly, producing pain. The eye turns red, the cornea swells and clouds, vision may be blurred, and lights may appear as if they have halos. Treatment with eye drops that help reduce the eye's production of aqueous humor and constrict the pupil may stop an acute attack. Surgery to improve the flow of the aqueous humor is usually recommended.
In chronic angle-closure glaucoma, the iris gradually closes over the drain, causing no recognizable symptoms. As this occurs, scars form between the iris and the drain, eventually blocking it and driving up intraocular pressure. Treatment may include eye drops and surgery.
Although rare in women, a problem called pigment dispersion syndrome can cause angle-closure glaucoma. The syndrome occurs when grains of pigment on the back of the iris flake off into the aqueous humor, eventually clogging the drainage meshwork and raising eye pressure. The syndrome produces no noticeable symptoms, but can be detected and monitored in routine eye examinations. About 30 percent of patients with pigment dispersion syndrome develop angle-closure glaucoma, according to the Glaucoma Research Foundation.
Normal-tension. Some people with normal eye pressure develop glaucoma, a disease known as low-tension or normal-tension glaucoma (NTG). The Glaucoma Research Foundation estimates that of the three million Americans with glaucoma, about 25 percent to 33 percent may have this form of disease in which eye pressures are within the normal range, but the optic nerve progressively deteriorates. The progression of the disease is faster in those who have the specific risk factors for progression, namely, migraine, disc hemorrhage (a very small bleed on the optic disc, most often seen in those with NTG as opposed to other forms of glaucoma), female gender and racial heritage. Research is continuing on this form of glaucoma, which is thought to be related to poor blood flow to the optic nerve.
Open-angle. In this most common form of glaucoma, the angle where the cornea and the iris meet is open, but the aqueous humor fluid passes too slowly through the meshwork drain. As a result, the pressure in the eye gradually increases, compressing cells in the optic nerve. If left untreated, the compression eventually will cause the optic nerve cells to die, producing blindness.
Open-angle glaucoma occurs in about one percent of all Americans age 50 and older, according to the Glaucoma Foundation. This type of glaucoma is the leading cause of blindness among African Americans, occurring six to eight more times more often, and at earlier ages than in Caucasians, reports the American Academy of Ophthalmology. Early detection is essential to managing open-angle glaucoma and minimizing vision loss. Treatments include medications in the form of eye drops and pills to reduce the amount of aqueous humor in the eye or improve its drainage, both of which help reduce intraocular pressure. Surgery, either by using a laser or by conventional means, also may be recommended.
Angle-closure. This type of glaucoma affects nearly 500,000 people in the U.S. according to the Glaucoma Foundation. It occurs when the angle between the iris and the cornea is closed, and the aqueous humor cannot drain, producing high eye pressure. This form of glaucoma is more common among people of Asian or Eskimo descent, especially older women. Other risk factors include old age, a family history of the condition and farsightedness.
Angle-closure glaucoma occurs in two forms, acute and chronic. The acute version can be a sudden, painful attack requiring emergency treatment. The chronic version occurs over time, producing no recognizable symptoms before vision is lost.
People with angle-closure glaucoma tend to have a smaller-than-average anterior chamber, and the angle between the iris and the cornea where the aqueous humor drains is also smaller. When the lens naturally grows larger with advancing age, the aqueous humor has difficulty flowing in the tight space, causing the fluid to build up behind the iris, narrowing the angle even more. When the pupil dilates, such as when entering a dark room, or when experiencing anxiety or stress, the angle narrows even further, and the iris is forced against the trabecular meshwork, stopping drainage. Without drainage, pressure in the eye squeezes and damages the optic nerve.
In acute angle-closure glaucoma, intraocular pressure rises suddenly, producing pain. The eye turns red, the cornea swells and clouds, vision may be blurred, and lights may appear as if they have halos. Treatment with eye drops that help reduce the eye's production of aqueous humor and constrict the pupil may stop an acute attack. Surgery to improve the flow of the aqueous humor is usually recommended.
In chronic angle-closure glaucoma, the iris gradually closes over the drain, causing no recognizable symptoms. As this occurs, scars form between the iris and the drain, eventually blocking it and driving up intraocular pressure. Treatment may include eye drops and surgery.
Although rare in women, a problem called pigment dispersion syndrome can cause angle-closure glaucoma. The syndrome occurs when grains of pigment on the back of the iris flake off into the aqueous humor, eventually clogging the drainage meshwork and raising eye pressure. The syndrome produces no noticeable symptoms, but can be detected and monitored in routine eye examinations. About 30 percent of patients with pigment dispersion syndrome develop angle-closure glaucoma, according to the Glaucoma Research Foundation.
Normal-tension. Some people with normal eye pressure develop glaucoma, a disease known as low-tension or normal-tension glaucoma (NTG). The Glaucoma Research Foundation estimates that of the three million Americans with glaucoma, about 25 percent to 33 percent may have this form of disease in which eye pressures are within the normal range, but the optic nerve progressively deteriorates. The progression of the disease is faster in those who have the specific risk factors for progression, namely, migraine, disc hemorrhage (a very small bleed on the optic disc, most often seen in those with NTG as opposed to other forms of glaucoma), female gender and racial heritage. Research is continuing on this form of glaucoma, which is thought to be related to poor blood flow to the optic nerve.
Glaucoma
Glaucoma
Often called the "sneak thief of sight," glaucoma refers to a group of eye diseases that damage the nerves carrying images from the eye to the brain. It is a leading cause of blindness in the U.S., accounting for nine to 12 percent of all blindness, according to Prevent Blindness America. The organization estimates that one in every 30 Americans age 40 and older has the disease, but half don't know it. Glaucoma usually produces no symptoms until the disease has progressed to the point of robbing a person's sight.
Although glaucoma has no cure, it can be controlled and vision maintained if it is caught early. That's why comprehensive eye examinations are recommended at least every two years for those at increased risk for the disease. Although anyone can get glaucoma, the risk is higher for those over age 60, those who have a family history of the condition, and African Americans. The National Eye Institute reports that African Americans are five times more likely than Caucasians to develop glaucoma. The risk of blindness from glaucoma is four times greater in African Americans than Caucasians overall, and 15 times greater in African Americans age 45 to 65 than in Caucasians of the same age, according to the institute.
Additional risk factors include:
Diabetes
nearsightedness, called myopia
regular, long-term steroid or cortisone use
previous eye injury
Another risk factor for glaucoma is high pressure within the eye. Pressure in the eye is known as intraocular pressure. It's a common misconception that having high intraocular pressure means you're a victim of glaucoma. In fact, you can have high intraocular pressure, known as ocular hypertension, and not have glaucoma. Whether you develop glaucoma depends on how much pressure your optic nerve-the bundle of 1.2 million nerve fibers that transmits images from the eye to the brain-can take without being damaged.
The first step in understanding glaucoma and its relationship to intraocular pressure is learning how the eye works. The outer protective layer of eye includes clear tissue through which light enters the eye, known as the cornea. The iris is the colored part of the eye that contains muscles that make the pupil (the dark-colored area in the center of the eye that lets light into the eye) open and close. Located behind the iris is the lens, a transparent structure with an outward curve on both sides that focuses light onto the retina at the back of the eye. The retina is made of light-sensitive tissue that sends visual messages via nerve impulses to the brain through the optic nerve. The brain then processes the nerve signals into the images you see.
The anterior chamber is a space in the eye bordered by the cornea, iris, pupil and lens. Flowing through this chamber is a liquid, called the aqueous humor, which supplies oxygen and nutrients to the cornea and lens, and helps maintain the shape of the eyeball. A tiny gland, called the ciliary body, located behind the iris produces the fluid. The fluid travels from the gland through the pupil into the anterior chamber, exiting at an angle where the cornea and the iris meet. At the angle is a spongy mesh of tissue that works like a drain, called the trabecular meshwork.
Often called the "sneak thief of sight," glaucoma refers to a group of eye diseases that damage the nerves carrying images from the eye to the brain. It is a leading cause of blindness in the U.S., accounting for nine to 12 percent of all blindness, according to Prevent Blindness America. The organization estimates that one in every 30 Americans age 40 and older has the disease, but half don't know it. Glaucoma usually produces no symptoms until the disease has progressed to the point of robbing a person's sight.
Although glaucoma has no cure, it can be controlled and vision maintained if it is caught early. That's why comprehensive eye examinations are recommended at least every two years for those at increased risk for the disease. Although anyone can get glaucoma, the risk is higher for those over age 60, those who have a family history of the condition, and African Americans. The National Eye Institute reports that African Americans are five times more likely than Caucasians to develop glaucoma. The risk of blindness from glaucoma is four times greater in African Americans than Caucasians overall, and 15 times greater in African Americans age 45 to 65 than in Caucasians of the same age, according to the institute.
Additional risk factors include:
Diabetes
nearsightedness, called myopia
regular, long-term steroid or cortisone use
previous eye injury
Another risk factor for glaucoma is high pressure within the eye. Pressure in the eye is known as intraocular pressure. It's a common misconception that having high intraocular pressure means you're a victim of glaucoma. In fact, you can have high intraocular pressure, known as ocular hypertension, and not have glaucoma. Whether you develop glaucoma depends on how much pressure your optic nerve-the bundle of 1.2 million nerve fibers that transmits images from the eye to the brain-can take without being damaged.
The first step in understanding glaucoma and its relationship to intraocular pressure is learning how the eye works. The outer protective layer of eye includes clear tissue through which light enters the eye, known as the cornea. The iris is the colored part of the eye that contains muscles that make the pupil (the dark-colored area in the center of the eye that lets light into the eye) open and close. Located behind the iris is the lens, a transparent structure with an outward curve on both sides that focuses light onto the retina at the back of the eye. The retina is made of light-sensitive tissue that sends visual messages via nerve impulses to the brain through the optic nerve. The brain then processes the nerve signals into the images you see.
The anterior chamber is a space in the eye bordered by the cornea, iris, pupil and lens. Flowing through this chamber is a liquid, called the aqueous humor, which supplies oxygen and nutrients to the cornea and lens, and helps maintain the shape of the eyeball. A tiny gland, called the ciliary body, located behind the iris produces the fluid. The fluid travels from the gland through the pupil into the anterior chamber, exiting at an angle where the cornea and the iris meet. At the angle is a spongy mesh of tissue that works like a drain, called the trabecular meshwork.
Diseases
About The Diseases
Alpha-1 antitrypsin (AAT) deficiency leads to lung damage and emphysema by the third or fourth decade of life. Liver disease may occur in the first few months of life. The condition is worsened by smoking. A replacement therapy is available but in chronically short supply, and it is not known how effective this is once disease has developed or which people would benefit most. You should consider carrier screening if you have a family history of the disease.
Celiac disease is the most common genetic disease in Europe affecting, for example, about one in 250 people in Italy and one in 300 in Ireland. In celiac disease, a protein called gluten (found in grains) provokes the body's immune system to destroy the small intestine's nutrient-absorbing villi. This destruction leads to malnourishment, but with a gluten-free diet, the villi heal. A gluten-free diet means avoiding all foods that contain wheat, rye, barley, and possibly oats--in other words, most grain, pasta, cereal and many processed foods. Despite these restrictions, people with celiac disease can eat a well-balanced diet with a variety of foods, including bread and pasta. For example, instead of wheat flour, people can use potato, rice, soy or bean flour. Or, they can buy gluten-free bread, pasta and other products from special food companies. The disease is believed to be underdiagnosed in the U.S., where the time between the first symptoms and diagnosis averages about 10 years. Children of a person with celiac disease have about a five to 10 percent chance of developing the disease. You may want to consider screening for yourself or a child if a close relative has celiac disease or symptoms such as anemia, delayed growth or weight loss appear. There is an increased incidence of celiac disease in individuals with Down syndrome.
Congenital adrenal hyperplasia (CAH) is caused by insufficient production of an essential chemical called cortisol. Children with CAH may have male features, such as excess facial hair, and tend to stop growing early and have trouble fighting infections and retaining salt. Girls with the severe form of the condition may have genital defects. The mild form has similar, but less pronounced, symptoms and may go undiagnosed. You may want to consider screening if you have a family history of the disease. During pregnancy, treating the mother can prevent the severe manifestations of CAH.
Cystic fibrosis is characterized by the production of thick mucus, leading to pulmonary and digestive problems. The disease is caused by a mutated CFTR gene (cystic fibrosis transmembrane regulator). About one in 25 Caucasian Americans is a carrier of a mutation in this gene. Cystic fibrosis occurs most frequently in Caucasians of northern European origin. Because there are many possible disease-causing mutations in the gene, most tests are only about 80 to 85 percent accurate and this may be lower in some ethnic groups. Tests for Ashkenazi Jewish carriers are 97 percent accurate, however, because there are three specific mutations in this population for this condition.
Fragile X syndrome is an X-linked recessive disorder that is the leading cause of genetically inherited mental retardation. Because the mutation (in a gene called FMR-1) is X-linked, boys are affected more frequently and more severely; often women are carriers with no or less severe symptoms, however, females can be affected. The mutation consists of segments of unstable DNA that are repeated; the repeats lengthen with each succeeding generation, leading to greater impairment in offspring. Consider carrier screening if you have a family history of Fragile X or mental retardation in male relatives.
Hemophilia A and B are X-linked recessive disorders characterized by low levels or absence of one of two essential blood-clotting proteins. About 20,000 males suffer from hemophilia, with hemophilia A accounting for 85 percent of cases. Treatment with the clotting proteins is expensive. Consider carrier testing if you have a family history of hemophilia or excessive bleeding.
Phenylketonuria, or PKU, is characterized by an inability to metabolize an amino acid called phenylalanine. Buildup of the chemical causes mental retardation, but state-mandated screening programs are able to identify newborns with PKU so that a special phenylalanine-free diet can be started to prevent retardation and other problems. If you were diagnosed with PKU as a child, a special diet is called for during pregnancy. You should consider carrier screening if you have a family history of the disease.
Sickle cell disease is a blood disorder caused by a mutation in the gene that expresses the hemoglobin protein. The disease is characterized by anemia and periodic episodes of pain. Hemoglobin, the substances that carries oxygen in red blood cells, forms uncharacteristic, rodlike clusters in the cells, giving them a sickle shape and impeding their passage in small blood vessels. The cells create a bottleneck that deprives tissues of oxygen and causes pain. The cells die more quickly than normal red blood cells, leaving the body chronically short of such cells and anemic. About one in 12 African Americans is a carrier.
Thalassemia is a term that covers a range of related anemias that vary in severity. A baby with thalassemia major may appear normal during the first year but subsequently develops symptoms such as jaundice (yellowed skin) and low appetite. If untreated, enlargement of the liver and spleen can occur, sometimes leading to heart failure or heightened susceptibility to life-threatening infections.
Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys or the pancreas. Gene testing is available.
Recessive Genetic Conditions More Prevalent in Individuals of Ashkenazi Jewish Descent
Canavan disease is a neurodegenerative disease characterized by lack of the aspartoacylase enzyme, which is critical for central nervous system development and function. The progression is similar to Tay-Sachs disease, and affected children usually die by age five. Your doctor, even an ob/gyn, may not be aware of the risk for Canavan disease. The carrier rate is about one in 40 among Ashkenazi Jews.
Congenital deafness can be caused by one of two changes in a gene called Connexin 26. About one in 21 individuals of Ashkenazi Jewish descent has one of the two mutations.
Alpha-1 antitrypsin (AAT) deficiency leads to lung damage and emphysema by the third or fourth decade of life. Liver disease may occur in the first few months of life. The condition is worsened by smoking. A replacement therapy is available but in chronically short supply, and it is not known how effective this is once disease has developed or which people would benefit most. You should consider carrier screening if you have a family history of the disease.
Celiac disease is the most common genetic disease in Europe affecting, for example, about one in 250 people in Italy and one in 300 in Ireland. In celiac disease, a protein called gluten (found in grains) provokes the body's immune system to destroy the small intestine's nutrient-absorbing villi. This destruction leads to malnourishment, but with a gluten-free diet, the villi heal. A gluten-free diet means avoiding all foods that contain wheat, rye, barley, and possibly oats--in other words, most grain, pasta, cereal and many processed foods. Despite these restrictions, people with celiac disease can eat a well-balanced diet with a variety of foods, including bread and pasta. For example, instead of wheat flour, people can use potato, rice, soy or bean flour. Or, they can buy gluten-free bread, pasta and other products from special food companies. The disease is believed to be underdiagnosed in the U.S., where the time between the first symptoms and diagnosis averages about 10 years. Children of a person with celiac disease have about a five to 10 percent chance of developing the disease. You may want to consider screening for yourself or a child if a close relative has celiac disease or symptoms such as anemia, delayed growth or weight loss appear. There is an increased incidence of celiac disease in individuals with Down syndrome.
Congenital adrenal hyperplasia (CAH) is caused by insufficient production of an essential chemical called cortisol. Children with CAH may have male features, such as excess facial hair, and tend to stop growing early and have trouble fighting infections and retaining salt. Girls with the severe form of the condition may have genital defects. The mild form has similar, but less pronounced, symptoms and may go undiagnosed. You may want to consider screening if you have a family history of the disease. During pregnancy, treating the mother can prevent the severe manifestations of CAH.
Cystic fibrosis is characterized by the production of thick mucus, leading to pulmonary and digestive problems. The disease is caused by a mutated CFTR gene (cystic fibrosis transmembrane regulator). About one in 25 Caucasian Americans is a carrier of a mutation in this gene. Cystic fibrosis occurs most frequently in Caucasians of northern European origin. Because there are many possible disease-causing mutations in the gene, most tests are only about 80 to 85 percent accurate and this may be lower in some ethnic groups. Tests for Ashkenazi Jewish carriers are 97 percent accurate, however, because there are three specific mutations in this population for this condition.
Fragile X syndrome is an X-linked recessive disorder that is the leading cause of genetically inherited mental retardation. Because the mutation (in a gene called FMR-1) is X-linked, boys are affected more frequently and more severely; often women are carriers with no or less severe symptoms, however, females can be affected. The mutation consists of segments of unstable DNA that are repeated; the repeats lengthen with each succeeding generation, leading to greater impairment in offspring. Consider carrier screening if you have a family history of Fragile X or mental retardation in male relatives.
Hemophilia A and B are X-linked recessive disorders characterized by low levels or absence of one of two essential blood-clotting proteins. About 20,000 males suffer from hemophilia, with hemophilia A accounting for 85 percent of cases. Treatment with the clotting proteins is expensive. Consider carrier testing if you have a family history of hemophilia or excessive bleeding.
Phenylketonuria, or PKU, is characterized by an inability to metabolize an amino acid called phenylalanine. Buildup of the chemical causes mental retardation, but state-mandated screening programs are able to identify newborns with PKU so that a special phenylalanine-free diet can be started to prevent retardation and other problems. If you were diagnosed with PKU as a child, a special diet is called for during pregnancy. You should consider carrier screening if you have a family history of the disease.
Sickle cell disease is a blood disorder caused by a mutation in the gene that expresses the hemoglobin protein. The disease is characterized by anemia and periodic episodes of pain. Hemoglobin, the substances that carries oxygen in red blood cells, forms uncharacteristic, rodlike clusters in the cells, giving them a sickle shape and impeding their passage in small blood vessels. The cells create a bottleneck that deprives tissues of oxygen and causes pain. The cells die more quickly than normal red blood cells, leaving the body chronically short of such cells and anemic. About one in 12 African Americans is a carrier.
Thalassemia is a term that covers a range of related anemias that vary in severity. A baby with thalassemia major may appear normal during the first year but subsequently develops symptoms such as jaundice (yellowed skin) and low appetite. If untreated, enlargement of the liver and spleen can occur, sometimes leading to heart failure or heightened susceptibility to life-threatening infections.
Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys or the pancreas. Gene testing is available.
Recessive Genetic Conditions More Prevalent in Individuals of Ashkenazi Jewish Descent
Canavan disease is a neurodegenerative disease characterized by lack of the aspartoacylase enzyme, which is critical for central nervous system development and function. The progression is similar to Tay-Sachs disease, and affected children usually die by age five. Your doctor, even an ob/gyn, may not be aware of the risk for Canavan disease. The carrier rate is about one in 40 among Ashkenazi Jews.
Congenital deafness can be caused by one of two changes in a gene called Connexin 26. About one in 21 individuals of Ashkenazi Jewish descent has one of the two mutations.
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