Recent Advances in Therapeutic Approaches for Familial Hypercholesterolemia

Authors:

Volume 1, Issue 1

Abstract

Familial Hypercholesterolemia (FH) is an inherited autosomal genetic disorder characterized by elevated level of plasma low density lipoprotein cholesterol (LDLc), this condition increases the risk of early atherosclerosis and coronary heart disease. Loss of function mutation in LDLR and APOB gene leads to this condition where LDLR possess large number of variations that contribute to the disorder. Gain of function mutations in proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is another cause of FH. The permanent cure for FH is not found so far, but there are several following approaches to treat FH. Use of Statins were highly recommended for the patients to treat hypercholesterolemia during the past two decades. Although the statins have significant effect on reducing cholesterol levels in the patients, it comes with other possible side effects and complexities. Targeting of PCSK9 is the novel strategy developed recently to controlthe plasma LDL cholesterol levels. First, inhibition of PCSK9 binding to LDL receptor by monoclonal antibodies (alirocumab and evolocumab).Second, silencing of PCSK9 gene in the liver cells mediated by RNA mediated interference (RNAi).The recent advancements in the therapeutic aspects of FH are discussed in this review.

Keywords: <p>Familial hypercholesterolemia; PCSK9; LDL receptor; Monoclonal antibodies; RNAi</p>

View PDF