noun
congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
• Hypernyms: ↑hypercholesterolemia, ↑hypercholesteremia, ↑monogenic disorder, ↑monogenic disease
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noun : a metabolic disorder that is caused by defective or absent cellular receptors for LDLs, that is marked by an increase in blood plasma LDLs and by an accumulation of LDL cholesterol in the body (as in connective tissue) resulting in xanthomas, atherosclerosis, and an increased risk of myocardial infarction and coronary heart disease, and that is inherited as an autosomal dominant trait
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Pathol.
an inherited metabolic disorder caused by a lack or malfunction of receptors for the low-density lipoproteins that activate removal of cholesterol from the blood. Abbr.: FH.
Useful english dictionary. 2012.