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familial hypercholesterolemia

n :  an inherited metabolic disorder that is caused by defective or absent receptors for LDLs on cell surfaces and 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 myocardial infarction and coronary heart disease .
 
 

 
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