MedlinePlus Medical Encyclopedia: Familial hypercholesterolemia

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Familial hypercholesterolemia

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Xanthoma - close-up

Xanthoma on the knee

Coronary artery blockage

Alternative names Return to top

Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation

Definition Return to top

A dominantly inherited genetic condition that results in markedly elevated LDL (low-density lipoprotein) cholesterol levels beginning at birth, and resulting in heart attacks at an early age.

Causes, incidence, and risk factors Return to top

Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, heart attacks occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men.

Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise, and the use of newer drugs can bring lipids down to safer levels.

It is possible for a person to inherit two genes for this disorder. This magnifies the severity of the condition. Cholesterol values may exceed 600 mg/cc. Affected individuals develop waxy plaques (xanthomas) beneath the skin over their elbows, knees, buttocks. These are deposits of cholesterol in the skin. In addition, they develop deposits in tendons and around the cornea of the eye. Atherosclerosis begins before puberty and heart attacks and death may occur before age 30.

Symptoms Return to top

a strong family history of familial hypercholesterolemia or early heart attack
elevated and therapy-resistant levels of LDL in either or both parents
xanthomas (lesions caused by cholesterol rich lipoprotein deposits)
cholesterol deposits in the eyelids (xanthelasmas)
chest pain (angina) associated with coronary artery disease
evidence of obesity

Signs and tests Return to top

A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus.

Laboratory testing may show:

elevated triglycerides
protein electrophoresis may show abnormal results
total plasma cholesterol that is greater than 300 mg/cc (adult)
total plasma cholesterol that is greater than 250 mg/cc (children)
serum LDL that is higher than 200
studies of heart function, such as a stress test, may be abnormal
special studies of patient cells (fibroblasts) may show decreased uptake of LDL cholesterol
genetic testing for mutations in the LDL receptor gene

Treatment Return to top

The goal of treatment is to reduce the risk of atherosclerotic heart disease and heart attack.

The first step is to change what you eat. This is tried for several months before drug therapy is added. Diet changes include reducing total fat intake to less than 30% of the total calories consumed. Saturated fat intake is reduced by decreasing the amounts of beef, pork, and lamb; substituting low-fat dairy products; and eliminating coconut and palm oil. Cholesterol intake is reduced by eliminating egg yolks, organ meats and sources of animal-derived saturated fat.

Further reductions in the percentage of fat in the diet may be recommended after the initial trial period. Dietary counseling is often recommended to assist people with these adjustments to their eating habits.

Exercise, especially to induce weight loss, may also aid in lowering cholesterol levels.

Drug therapy may be initiated if diet, exercise, and weight-loss efforts have not reduced the cholesterol levels after an adequate trial period. Various cholesterol-reducing agents are available including:

bile acid sequestrant resins (cholestyramine and colestipol)
nicotinic acid
lovastatin and other 'statin' drugs
gemfibrozil
probucol

Support Groups Return to top

MEDPED (Make Early Diagnosis to Prevent Early Death)
www.medped.org
University of Utah
1-888-244-2465

Expectations (prognosis) Return to top

The outcome is likely to be poor in people with the homozygote type of familial hypercholesterolemia because it causes early heart attacks and is resistant to treatment.

The outcome of other types of familial hypercholesterolemia depends in part on the patient's compliance with treatment, but reduction in serum cholesterol levels can be achieved and may be significant in delaying a heart attack.

Complications Return to top

heart attack at an early age
cholesterol-rich deposits in skin, eyelids

Calling your health care provider Return to top

Call your health care provider or go to the emergency room if you have crushing chest pain or other warning signs of heart attacks.
Call for an appointment with your health care provider if you or family members are found to have elevated total cholesterol levels.

Prevention Return to top

In families with a history of familial hypercholesterolemia, genetic counseling is of benefit, especially if both parents are affected. Prevention of early heart attacks requires recognition of existing elevated LDL levels, and a low-cholesterol, low-saturated fat, high-unsaturated fat diet in high-risk people may help to control LDL levels.

Update Date: 3/2/2004

Updated by: A.D.A.M. editorial. Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network (8/21/2003).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.