familial hypercholesterolemia (redirected from Congenital hypercholesterolemia)

hypercholesterolemia /hy·per·cho·les·ter·ol·emia/ (-ko-les″ter-ol-e´me-ah) an excess of cholesterol in the blood.hypercholesterole´mic

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familial hypercholesterolemia  an inherited disorder of lipoprotein metabolism due to defects in the receptor for low-density lipoprotein (LDL), with xanthomas, corneal arcus, premature corneal atherosclerosis, and a type II-a hyperlipoproteinemia biochemical phenotype with elevated plasma LDL and cholesterol.

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familial hypercholesterolemia

n.

1. See type II familial hyperlipoproteinemia.

2. See hypercholesterolemia.

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familial hypercholesterolemia.

See low-density lipoprotein receptor disorder.

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familial hypercholesterolemia

Metabolic disease A common–
1:500 congenital AD defect in the LDL receptor gene, resulting in dysfunctional or absent receptors Clinical Early CAD in ♂, first MI by age 40–♀ may be asymptomatic throughout life, tendinous xanthomas, corneal arcus, xanthelasma; homozygotes have LDL-C > 600 mg/dL, tuberous xanthomas and fatal CAD in adolescence Lab ↑ LDL-C–300-500 mg/dL-20% of
cholesterol in this range is due to FH Management Smoking cessation, diet, exercise, drugs–bile-acid binding resins–eg, cholestipol, cholestyramine, nicotinic acid, ↓ cholesterol and ↓ saturated fat diet, liver transplant may provide LDL receptors