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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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congenital heart disease congenital hemolytic anemia congenital hemolytic jaundice congenital hernia congenital herpes congenital hip dislocation Congenital Hip Dysplasia Congenital hypercholesterolemia congenital hypernatremia congenital hypertrophy of the retinal pigment epithelium congenital hypogammaglobulinemia congenital hypoplastic anemia congenital hypothyroidism congenital ichthyosiform erythroderma congenital immunity |
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