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    Familial dysbetalipoproteinemia

    Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

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

    Causes

    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.

    Exams and Tests

    Tests that may be done to diagnose this condition include:

    • Angiogram
    • Genetic testing for apolipoprotein E (apoE)
    • Heart stress test
    • Lipid panel blood test
    • Triglyceride level
    • Very low density lipoprotein (VLDL) test

    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

    Outlook (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.

    Possible Complications

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

    When to Contact a Medical Professional

    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

    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.

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    • Coronary artery disease

      illustration

      • Coronary artery disease

        illustration

      Tests for Familial dysbetalipoproteinemia

        Review Date: 6/4/2012

        Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc. 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 medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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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