Familial hypercholesterolemia

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Xanthoma - close-up

Xanthoma on the knee

Coronary artery blockage

Overview

Symptoms

Treatment

Prevention

Familial hypercholesterolemia

Alternative Names:

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

Treatment:

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 (niacin)
lovastatin and other 'statin' drugs
gemfibrozil
probucol

Support Groups:

MEDPED (Make Early Diagnosis to Prevent Early Death)

www.medped.org

University of Utah

1-888-244-2465

Expectations (prognosis):

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:

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

Calling your health care provider:

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.

Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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