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Alternative names Return to top
Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutationDefinition 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.Symptoms Return to top
Signs and tests Return to top
A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus.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:
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.Complications Return to top
Calling your health care provider Return to top
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).
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Page last updated: 28 October 2004 |