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