familial hypercholesterolemia noun
: a disorder of lipid metabolism 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 artery disease, and that is inherited as an autosomal dominant trait
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