Familial dysbetalipoproteinemia

Familial dysbetalipoproteinemia


Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

Familial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood.

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  • Causes

    A genetic defect causes this condition. The defect results in the buildup of large lipoprotein particles that contain both cholesterol and a type of fat called triglycerides. 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.

    Other symptoms may include:

    • Chest pain (angina) or other signs of coronary artery disease; may be present at a young age
    • Cramping of one or both calves when walking
    • Sores on the toes that do not heal
    • Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance
  • Exams and Tests

    Tests that may be done to diagnose this condition include:

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

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

    Making diet changes to reduce calories, saturated fats, and cholesterol may help lower blood cholesterol.

    If cholesterol and triglyceride levels are still high after you have made diet changes, your doctor may have you take medicines as well. 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 are able to greatly reduce their 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 people with this condition may lead to early detection and treatment.

    Getting treated early and limiting other risk factors such as smoking can help prevent early heart attacks, strokes, and blocked blood vessels.

Related Information

  Hardening of the a...Stable anginaPeripheral artery ...HypothyroidismOverweightDiabetesHeart attack     CholesterolCoronary artery di...Peripheral artery ...


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.

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