Familial hypercholesterolemia

Alternative names:

hypercholesterolemic xanthomatosis; type II hyperlipoproteinemia

Symptoms:

• a strong family history of early myocardial infarction
• elevated and therapy-resistant levels of LDL in either or both parents
• xanthomas (lesions caused by cholesterol 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 and xanthelasmas.

Laboratory testing may show:

• elevated triglycerides
• protein electrophoresis
• 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