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Coronary artery disease
Coronary artery disease
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Familial dysbetalipoproteinemia

Definition:
Familial dysbetalipoproteinemia is an inherited disorder in which both cholesterol and triglycerides are elevated in the plasma.

Alternative Names:
Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

Causes, incidence, and risk factors:

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.



Review Date: 8/21/2003
Reviewed 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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