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familial hypercholesterolemia: Health Search Results from the Invisible Web

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:: Definition :: Images :: Causes :: Symptoms :: Treatment :: Further Reading Search results last updated: 5/7/2009

familial hypercholesterolemia - Definition: (Source: MedicineNet)

Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in blood). One in every 500 children is born with familial hypercholesterolemia. The condition predisposes to premature arteriosclerosis including coronary artery disease with heart attacks at an unusually young age. ...
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familial hypercholesterolemia - Images (Source: MedLinePlus)
familial hypercholesterolemia, Xanthoma - close-up
Xanthoma - close-up
familial hypercholesterolemia, Xanthoma - close-up
Xanthoma - close-up
familial hypercholesterolemia, Xanthoma on the knee
Xanthoma on the knee
familial hypercholesterolemia, Coronary artery blockage
Coronary artery blockage

Causes of familial hypercholesterolemia (Source: MedLinePlus)
Familial hypercholesterolemia is caused by a gene defect on chromosome 19. The defect makes the body unable to remove LDL cholesterol from the bloodstream. This results in consistently high levels of LDL in the blood, which leads to atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease. An individual who inherits one copy of the gene is considered "heterozygous." In rare cases, a child may inherit the gene from both parents. Individuals who inherit both genes are considered "homozygous." Homozygous familial hypercholesterolemia is much more severe. Cholesterol levels may exceed 600mg/dL, greatly increasing the risk for heart attacks and heart disease. ...
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Symptoms of familial hypercholesterolemia (Source: MedLinePlus)
Symptoms that may occur include: Fatty, cholesterol-rich skin deposits (xanthomas); Cholesterol deposits in the eyelids (xanthelasmas); Chest pain ( angina ) associated with coronary artery disease ; Obesity . Persons with either one or two copies of the defective gene can develop fatty skin deposits over their elbows, knees, buttocks, tendons, and around the cornea of the eye. ...
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familial hypercholesterolemia - Conventional Treatments (Source: MedLinePlus)
Proper diet, exercise, and certain medications can bring lipids (fats in the blood) down to safer levels and reduce your risk of heart disease and heart attacks. Those who inherit only one copy of the defective gene may respond well to diet changes combined with statin drugs. The first step is to change what you eat. You typically follow a modified diet for several months before your doctor adds on medications. You'll be told to decrease fat intake to less than 30% of the total calories you get each day. You can reduce fat intake by: Eating less beef, pork, and lamb; Choosing low-fat dairy products; Avoiding coconut and palm oil. Cholesterol intake is reduced by avoiding: Egg yolks; Organ meats; Sources of animal-derived saturated fat. Further reductions in the percentage of fat in the diet may be recommended. For more information, see: Heart disease and diet . Exercise, especially to induce weight loss, may also aid in lowering cholesterol levels. Drug therapy may be started if diet, exercise, and weight-loss efforts have not lowered your cholesterol levels over time. Several cholesterol-lowering drugs are available, including: Bile acid sequestrant resins (cholestyramine and colestipol); Fenofibrate; Gemfibrozil; Nicotinic acid (niacin); Statin drugs . In rare cases, persons who inherited two copies of the defective gene may need surgery such as a liver transplant. ...
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Further Reading on familial hypercholesterolemia

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