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Familial dysbetalipoproteinemia   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

Definition:

An inherited disorder in which both cholesterol and triglycerides are elevated in the plasma.

Causes and Risks

Familial dysbetalipoproteinemia 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. The incidence is 1 out of 10,000 people.

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