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Familial hypercholesterolemia


Definition:

Familial hypercholesterolemia is a disorder of high LDL ("bad") cholesterol that is passed down through families, which means it is inherited. The condition begins at birth and can cause heart attacks at an early age.

See also:

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. Those who inherit only one copy of the defective gene may respond well to diet changes combined with statin drugs.

LIFESTYLE CHANGES

The first step is to change what you eat. Most of the time, this is tried for several months before your doctor recommends medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories.

Here are some ways to cut saturated fat our of your diet:

  • Eat less beef, chicken, pork, and lamb
  • Substitute low-fat dairy products for full-fat ones
  • Eliminate coconut and palm oils

You can reduce the amount of cholesterol you eat by eliminating egg yolks and organ meats.

Counseling is often recommended to help people make changes to their eating habits. Weight loss and regular exercise may also help lower your cholesterol levels.

See also: Heart disease and diet

MEDICATIONS

If lifestyle changes do not change your cholesterol levels or you have a very high risk of this condition, your doctor may recommend medication. There are several types of drugs available to help lower blood cholesterol levels, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol.

The most commonly used and effective drugs for treating high LDL cholesterol are called statins. The include lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), pitivastatin (Livalo), and rosuvastatin (Crestor).

Other cholesterol-lowering medicines include:

  • Bile acid-sequestering resins
  • Ezetimibe
  • Fibrates (such as gemfibrozil or fenofibrate)
  • Nicotinic acid

Those with more severe forms of this disorder may need a treatment called apheresis. Blood or plasma is removed from the body. Special filters then remove the extra LDL-cholesterol, and the blood plasma is then returned.

Expectations (prognosis):

How well you do greatly depends on whether or not you follow your doctor's treatment recommendations. Diet changes, exercise, and medications can lower cholesterol levels for those with the milder form of this disorder, and may significantly delay a heart attack.

Men and women with familial hypercholesterolemia typically are at increased risk of early heart attacks.

Risk of death varies among patients with familial hypercholesterolemia. Persons who inherit two copies of the defective gene have a poorer outcome. That type of familial hypercholesterolemia causes early heart attacks and is resistant to treatment.

Complications:
  • Heart attack at an early age
  • Heart disease
Calling your health care provider:

Seek immediate medical care if you have chest pain or other warning signs of heart attacks.

Call for an appointment with your health care provider if you have a personal or family history of high cholesterol levels.

Prevention:

A diet low in cholesterol and saturated fat and rich in unsaturated fat diet may help to control LDL levels.

Counseling is an option for those who have a family history of this condition, particularly if both parents carry the defective gene.

References:

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap 47.

Semenkovich, CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 213.


Review Date: 6/4/2012
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

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.

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