Medical Dictionary
Main Entry:
familial hypercholesterolemia Function:
noun : a metabolic disorder that is caused by defective or absent receptors for LDLs on cell surfaces, that is markedby 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 myocardial infarction andcoronary heart disease, and that is inherited as an autosomal dominant trait
