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familial hypercholesterolemia
(redirected from Familial hypercholesterolaemia)

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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.
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


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It is estimated that up to 4,800 people may be unaware they have the potentially life-threatening familial hypercholesterolaemia (FH).
The pioneering drop-in centre will provide advice and support to everyone who is concerned about cholesterol and inherited high cholesterol conditions such as familial hypercholesterolaemia.
Experts hope to identify up to 100,000 people with familial hypercholesterolaemia (FH), a genetic defect that causes high cholesterol.
 
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