Familial combined hypercholesterolemia differs from other genetic hypercholesterolemias in the hepatic cholesterol production

Abstract

Aim: Primary hypercholesterolemias of genetic origin, negative for mutations in LDLR, APOB, PCSK9 and APOE genes (non-FH GH) and familial combined hyperlipidemia (FCHL) are polygenic with very high total cholesterol and very high cardiovascular risk with some clinical overlapping between them. If these two hypercholesterolemias share the same pathogenic mechanisms is unknown. In order to better characterize the metabolic abnormalities associated with these primary hypercholesterolemias we have studied their cholesterol homeostasis.