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Familial dysbetalipoproteinemia   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

Symptoms

Yellow deposits of fatty material in the skin called xanthomas may appear on the palm of the hand, sole of the foot, or on tendons of knees and elbows, and on the eyelids.  There may be early chest pain (angina) or decreased blood flow to other parts of the body causing transient ischemic attacks of the brain or claudication of the legs.

Signs and Tests

• a physical exam revealing characteristic xanthomas
• elevated serum LDL
• significantly increased remnants of VLDL and chylomicrons
• elevated total cholesterol
• elevated coronary risk profile triglycerides
• increased liklihood of apoE2 genotype
• defective apoE protein
• atherosclerosis evident by angiogram
• abnormal heart stress test

Ency. home > Disease > F > Familial dysbetalipoproteinemia

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