Abstract
Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism, characterized by high plasma cholesterol, mostly carried by low density lipoprotein (LDL). FH is mainly caused by mutations in three genes, LDLR, APOB, and PCSK9. Gain-of-function mutations in PCSK9 increase its proteolytic activity, reducing LDL receptor concentration, therefore resulting in high levels o…