This concept covers familial hypercholesterolemia, a genetic (type II hyperlipidemia) condition characterized by decreased LDL receptor activity and consequent LDL accumulation, and the mechanism of PCSK9 inhibitors as a pharmacologic treatment within cardiovascular pharmacology/lipidology. PCSK9 (proprotein convertase subtilisin/kexin type 9) is a serine protease whose gain-of-function mutation reduces LDL receptor activity and raises LDL cholesterol; monoclonal antibody inhibitors of PCSK9 restore LDL receptor activity, substantially lowering LDL cholesterol and reducing the risk of ischemic heart disease. This relates to the broader discipline of lipid metabolism and atherosclerotic cardiovascular disease prevention, particularly for patients refractory to statin therapy.
This concept covers familial hypercholesterolemia, a genetic (type II hyperlipidemia) condition characterized by decreased LDL receptor activity and consequent LDL accumulation, and the mechanism of …