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Familial dysbetalipoproteinemia

Definition

Familial dysbetalipoproteinemia is a disorder passed down through families in which there are high amounts of cholesterol and triglycerides in the blood.

Alternative Names

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

Causes, incidence, and risk factors

A genetic defect causes this condition. The defect results in the buildup of large lipoprotein particles that contain both cholesterol and triglycerides, a type of fat. The disease is linked to defects in the gene for apolipoprotein E in many cases.

Hypothyroidism, obesity, or diabetes can make the condition worse. Risk factors for familial dysbetalipoproteinemia include a family history of the disorder or coronary artery disease.

Symptoms

Symptoms may not be seen until age 20 or older.

Yellow deposits of fatty material in the skin called xanthomas may appear on the eyelids, palms of the hands, soles of the feet, or on the tendons of the knees and elbows.

Atherosclerosis develops at an early age. There may be early chest pain (angina) or decreased blood flow to specific parts of the body, causing transient ischemic attacks of the brain or peripheral artery disease with claudication.

Signs and tests

Tests that may be done to diagnose this condition include:

Treatment

The goal of treatment is to control underlying conditions such as obesity, hypothyroidism, and diabetes.

Reducing calories, saturated fats, and cholesterol may significantly reduce cholesterol levels.

See also: Heart disease and diet

If high cholesterol and triglyceride levels continue despite diet changes, your doctor may recommend medication to lower your triglyceride and cholesterol levels. Medicine to lower blood triglyceride and cholesterol levels include:

  • Bile acid-sequestering resins
  • Fibrates (gemfibrozil, fenofibrate)
  • Nicotinic acid
  • Statins

Expectations (prognosis)

People with this condition have an increased risk for coronary artery disease and peripheral vascular disease.

With treatment, most people show a significant reduction in lipid levels.

Complications

  • Heart attack
  • Stroke
  • Peripheral vascular disease
  • Intermittent claudication
  • Gangrene of the lower extremities

Calling your health care provider

Call your health care provider if you have been diagnosed with this disorder and:

  • New symptoms develop
  • Symptoms do not improve with treatment
  • Symptoms get worse

Prevention

Screening the family members of those with familial dysbetalipoproteinemia may lead to early detection and treatment.

Early treatment and avoiding other risk factors for vascular disease (such as smoking) are crucial to preventing early heart attacks, strokes, and blocked blood vessels.

References

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.


Review Date: 5/23/2010
Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional 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. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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