Familial hypercholesterolemia

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Coronary artery blockage

Xanthoma - close-up

Xanthoma - close-up

Xanthoma on the knee

Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation

• A strong family history of familial hypercholesterolemia or early heart attack
• Elevated and therapy-resistant levels of LDL in either or both parents
• Xanthomas (lesions caused by cholesterol rich lipoprotein deposits)
• Cholesterol deposits in the eyelids (xanthelasmas)
• Chest pain (angina) associated with coronary artery disease
• Evidence of obesity

A physical examination may reveal xanthomas, xanthelasmas and cholesterol-laden deposits called a corneal arcus.

Laboratory testing may show:

• Elevated triglycerides
• Protein electrophoresis may show abnormal results
• Total plasma cholesterol that is greater than 300 mg/dL (adult)
• Total plasma cholesterol that is greater than 250 mg/dL (children)
• Serum LDL that is higher than 200
• Studies of heart function, such as a stress test, may be abnormal
• Special studies of patient cells (fibroblasts) may show decreased uptake of LDL cholesterol
• Genetic testing for mutations in the LDL receptor gene

Review Date: 03/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.