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Alternative names Return to top
Type III hyperlipoproteinemia; Deficient or defective apolipoprotein EDefinition Return to top
Familial dysbetalipoproteinemia is an inherited disorder in which both cholesterol and triglycerides are elevated in the plasma.Causes, incidence, and risk factors Return to top
The condition is caused by a gene defect that results in an accumulation of large lipoprotein particles that contain both cholesterol and triglyceride. The disease is inherited in an autosomal recessive manner and can be traced to defects in the gene for apolipoprotein E in many cases. The disease is usually not evident by elevated blood levels or symptoms until the age of 20 or later.
Atherosclerosis develops in the coronary arteries, internal carotid arteries that supply blood to the brain, and the abdominal aorta and its branches. The condition predisposes people to coronary artery disease and peripheral vascular disease.
The condition is worsened by hypothyroidism, obesity, or diabetes. Risk factors are a family history of familial dysbetalipoproteinemia or coronary artery disease.
Symptoms Return to top
Signs and tests Return to top
Treatment Return to top
The goal of treatment is to control underlying conditions such as obesity, hypothyroidism, and diabetes that can make dysbetalipoproteinemia appear in people who would otherwise not have it.Expectations (prognosis) Return to top
Individuals with this form of hyperlipidemia have a significantly increased risk for coronary artery disease. With treatment, most people show a significant reduction in lipid levels.Complications Return to top
Calling your health care provider Return to top
Call your health care provider if symptoms worsen, do not improve with treatment, or new symptoms develop. Call a genetic counselor if there is a family history of dysbetalipoproteinemia.Prevention Return to top
Screening for family members of people with familial dysbetalipoproteinemia may lead to early detection and treatment. Early treatment and avoiding other risk factors for vascular disease, such as smoking, are crucial to preventing early heart attacks, strokes and blocked blood vessels. Update Date: 8/21/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |