familial hypercholesterolemia (redirected from Familial hypercholesterolaemia)

familial hypercholesterolemia

n.

1. See type II familial hyperlipoproteinemia.

2. See hypercholesterolemia.

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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