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.
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.
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 ankles, knees and elbows.
Other symptoms may include:
Tests that may be done to diagnose this condition include:
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 health care provider may have you take medicines as well. Medicines to lower blood triglyceride and cholesterol levels include:
With treatment, most people are able to greatly reduce their levels of cholesterol and triglycerides.
Complications may include:
Contact your provider if you have been diagnosed with this disorder and:
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.
Genest J, Mora S, Libby P. Lipoprotein disorders and cardiovascular disease. In: Libby P, Bonow RO, Mann DL, Tomaselli GF, Bhatt DL, Solomon SD, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Philadelphia, PA: Elsevier; 2022:chap 27.
Robinson JG. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 195.BACK TO TOP
Review Date: 5/8/2022
Reviewed By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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