Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart J. 2022 Jan-Feb;74(1):1-6. doi: 10.1016/j.ihj.2021.11.185. Epub 2021 Dec 4.


Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250-500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LDLR mutations, 4% are ApoB, 2% are PCSK9 mutations and the mutational spectrum for 37% is unknown. This calls for widespread genetic screening which could help identify definite FH patients. European Atherosclerosis Society-Familial Hypercholesterolemia Studies Collaboration (EAS- FHSC) has taken an initiative to develop a worldwide registry of FH. India is also a part of the collaboration and 3 groups from Mumbai, Delhi and Chennai are actively contributing to this registry. We believe this review might help to understand the Indian scenario of FH and investigators across India can contribute in managing FH in India and further help in the detection, diagnosis and treatment.

Keywords: Familial hypercholesterolemia (FH); Genetic and cascade screening; Indian FH Registry; Premature coronary artery disease.

Publication types

  • Review

MeSH terms

  • Genetic Testing
  • Humans
  • Hyperlipoproteinemia Type II* / diagnosis
  • Hyperlipoproteinemia Type II* / epidemiology
  • Hyperlipoproteinemia Type II* / genetics
  • India / epidemiology
  • Mutation
  • Proprotein Convertase 9* / genetics
  • Receptors, LDL / genetics
  • Registries


  • Receptors, LDL
  • PCSK9 protein, human
  • Proprotein Convertase 9