Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Mar;76 Suppl 1(Suppl 1):S108-S112.
doi: 10.1016/j.ihj.2023.12.002. Epub 2024 Apr 8.

Familial hypercholesterolemia

J P S Sawhney  1 , Kushal Madan  2
Affiliations
Review

Familial hypercholesterolemia

J P S Sawhney et al. Indian Heart J. 2024 Mar.

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.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Guest Editor for this special issue “Indian Clinical Practice Guidelines for Dyslipidemia Management” If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The author(s) of this article is also the guest editor of this special issue, however the authors were not involved in peer-review or decision process of the article.

Similar articles

See all similar articles

References

    1. Akioyamen L.E., Genest J., Shan S.D., et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7(9) - PMC - PubMed
    1. Beheshti S.O., Madsen C.M., Varbo A., et al. Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects. J Am Coll Cardiol. 2020;75(20):2553–2566. - PubMed
    1. Singh A., Gupta A., Collins B.L., et al. Familial hypercholesterolemia among young adults with myocardial infarction. J Am Coll Cardiol. 2019;73(19):2439–2450. - PubMed
    1. Pang J., Poulter E.B., Bell D.A., et al. Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit. J Clin Lipidol. 2015;9(5):703–708. - PubMed
    1. Levenson A.E., de Ferranti S.D. In: Endotext [Internet] Feingold K.R., Anawalt B., Blackman M.R., et al., editors. MDText.com, Inc.; South Dartmouth (MA: 2000. Familial hypercholesterolemia. 2020 feb 8. PMID: 27809433.

MeSH terms

Substances