Familial hypercholesterolemia

Indian Heart J. 2024 Mar;76 Suppl 1(Suppl 1):S108-S112. doi: 10.1016/j.ihj.2023.12.002. Epub 2024 Apr 8.

Abstract

Familial hypercholesterolemia is a common genetic disorder of autosomal inheritance associated with elevated LDL-cholesterol. It is estimated to affect 1:250 individuals in general population roughly estimated to be 5 million in India. The prevalence of FH is higher in young CAD patients (<55 years in men; <60 years in women). FH is underdiagnosed and undertreated. Screening during childhood and Cascade screening of family members of known FH patients is of utmost importance in order to prevent the burden of CAD. Early identification of FH patients and early initiation of the lifelong lipid lowering therapy is the most effective strategy for managing FH. FH management includes pharmaceutical agents (statins and non statin drugs) and lifestyle modification. Inspite of maximum dose of statin with or without Ezetimibe, if target levels of LDL-C are not achieved, Bempedoic acid, proprotein convertase subtilisin/kexin type 9 (PCSK9) Inhibitors/Inclisiran can be added.

Keywords: Cascade screening; DLCN; Familial hypercholeterolemia.

Publication types

  • Review

MeSH terms

  • Anticholesteremic Agents* / therapeutic use
  • Cholesterol, LDL
  • Female
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors* / therapeutic use
  • Hyperlipoproteinemia Type II* / diagnosis
  • Hyperlipoproteinemia Type II* / epidemiology
  • Hyperlipoproteinemia Type II* / genetics
  • Male
  • Proprotein Convertase 9 / therapeutic use

Substances

  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Anticholesteremic Agents
  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors