familial hypercholesterolemia n a metabolic disorder that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body (as in connective tissue) resulting in xanthomas, atherosclerosis, and an increased risk of heart attack and coronary heart disease, and that is inherited as an autosomal dominant trait
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an inherited disorder of lipoprotein metabolism resulting from defects in the cellular receptor for plasma low-density lipoprotein (LDL), inherited as an autosomal dominant trait with gene dosage effect. Defects in the receptor are caused by mutation in the LDLR gene (locus: p13.2); over 1000 different mutations have been described. It is characterized by cutaneous and tendinous xanthomas, corneal arcus, and premature coronary atherosclerosis. The biochemical phenotype, elevated plasma LDL and cholesterol, is that of a type II-a hyperlipoproteinemia; rarely, plasma very-low-density lipoproteins and triglycerides may also be elevated, a type II-b phenotype. See table at hyperlipoproteinemia.Medical dictionary. 2011.