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.
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.
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:
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:
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.