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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. 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 How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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In a recent study, the daily consumption of 250 grams of broiled prickly pear cactus lowered total cholesterol and LDL cholesterol levels (but not HDL cholesterol or triglyceride levels) in 15 young patients with familial hypercholesterolemia. The hereditary types of hyperlipoproteinemia are familial lipoprotein lipase deficiency and/or apoprotein C-II deficiency (type I or V), familial hypercholesterolemia (type IIa or IIb), familial dysbetalipoproteinemia type III), familial hypertriglyceridemia (type IV), and combined hypercholesterolemia (type IIa, IIb, and/or IV) (table). Familial hypercholesterolemia is a genetic disorder that is well understood, deadly without treatment, and well controlled with treatment. |
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