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Familial hypercholesterolemia


Definition:

Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL ("bad") cholesterol levels to be very high. The condition begins at birth and can cause heart attacks at an early age.

Related topics include:

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. People who get only one copy of the defective gene from their parents may do well with diet changes and statin drugs.

LIFESTYLE CHANGES

The first step is to change what you eat. Most of the time, the doctor will recommend that you try this for several months before prescribing medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories. If you are overweight, losing weight is very helpful.

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

  • Eat less beef, chicken, pork, and lamb
  • Substitute low-fat dairy products for full-fat ones
  • Eliminate trans fats

You can lower the amount of cholesterol you eat by eliminating egg yolks and organ meats such as liver.

It may help to talk to a dietitian who can give you advice about changing your eating habits. Weight loss and regular exercise may also help lower your cholesterol levels.

MEDICATIONS

If lifestyle changes do not change your cholesterol levels or you have a very high risk of this condition, your doctor may recommend that you take medicines. 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.

Statin drugs are commonly used and are very effective. They include lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), pitivastatin (Livalo),and rosuvastatin (Crestor). These drugs help lower your risk of heart attack and stroke.

Other cholesterol-lowering medicines include:

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

People with a severe form of the disorder may need a treatment called apheresis. Blood or plasma is removed from the body. Special filters remove the extra LDL cholesterol, and the blood plasma is then returned to the body.

Outlook (Prognosis):

How well you do depends on how closely you follow your doctor's treatment advice. Making diet changes, exercising, and taking your medicines correctly can lower cholesterol levels. These changes can help delay a heart attack, especially for people with a milder form of the disorder.

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

Risk of death varies among people with familial hypercholesterolemia. If you inherit two copies of the defective gene, you have a poorer outcome. That type of familial hypercholesterolemia does not respond well to treatment and may cause an early heart attack.

Possible Complications:

  • Heart attack at an early age
  • Heart disease
  • Stroke
  • Peripheral vascular disease 
When to Contact a Medical Professional:

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

Call 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.

People with a family history of this condition, particularly if both parents carry the defective gene, may want to seek genetic counseling.

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: Elsevier Saunders; 2011:chap 47.

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


Review Date: 5/20/2014
Reviewed By: Larry A. Weinrauch MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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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