Familial hypercholesterolemia

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Xanthoma - close-up

Xanthoma on the knee

Coronary artery blockage

Overview

Symptoms

Treatment

Prevention

Familial hypercholesterolemia

Alternative Names:

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

Symptoms:

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

Signs and tests:

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/cc (adult)
total plasma cholesterol that is greater than 250 mg/cc (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: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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