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familial hypercholesterolemia |
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hypercholesterolemia /hy·per·cho·les·ter·ol·emia/ (-ko-les″ter-ol-e´me-ah) an excess of cholesterol in the blood.hypercholesterole´mic
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.
familial hypercholesterolemia. hypercholesterolemia [hi″per-ko-les″ter-ol-e´me-ah] excess of cholesterol in the blood. familial hypercholesterolemia hyperlipoproteinemia (type II).
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 Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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