Familial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood.
Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E
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.
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:
Exams and Tests
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:
When to Contact a Medical Professional
Call 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.
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Robinson JG, Farnier M, Krempf M, et al. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015;372(16):1489-1499. PMID: 25773378 www.ncbi.nlm.nih.gov/pubmed/25773378.
Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 206.
Review Date: 5/5/2016
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 Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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