Familial hypercholesterolemia: an under-recognized but significant concern in cardiology practice.

Abstract excerpt

Familial hypercholesterolemia (FH) is a common disorder in which genetic mutations in at least 1 of several genes lead to significantly increased levels of lipoproteins, in particular, low-density lipoprotein cholesterol. Most commonly, mutations in the low-density lipoprotein receptor gene result in high plasma levels of apolipoprotein B-containing lipoproteins (eg, low-density lipoprotein and lipoprotein(a))....

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