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):S113-S116.
doi: 10.1016/j.ihj.2023.11.005. Epub 2023 Nov 18.

Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia

Alexander R M Lyons  1 , Christophe A T Stevens  2 , Kanika I Dharmayat  2 , Dr Antonio J Vallejo-Vaz  3 , Kausik K Ray  2
Affiliations
Review

Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia

Alexander R M Lyons et al. Indian Heart J. 2024 Mar.

Abstract

This is an overview of the EAS Familial Hypercholesterolaemia (FH) Studies Collaboration (FHSC) global consortium and registry (established 2015), which broadly addresses the global burden of FH. Eighty-seven National Lead Investigators from 74 countries form this expanding global consortium, and this global registry currently includes pooled data on 70,000 participants from participating countries to facilitate FH surveillance. Published first results from this global registry concluded that FH is diagnosed late, and management of LDL-cholesterol falls below guideline recommendations, and therefore earlier detection of FH and wider use of combination therapy is required. Further FHSC studies will follow on updated data including new countries, participants and variables, and non-DNA genetic information, and on the remaining cohorts in the registry. FHSC cross-sectional collaborative global studies are expected to promote FH detection earlier in life to subsequently initiate early lipid lowering therapy to reduce lifelong exposure to cumulative LDL-cholesterol thus reducing cardiovascular disease risk.

Keywords: Atherosclerosis; Dyslipidaemias; FHSC; Familial hypercholesterolaemia; Hypercholesterolaemia; LDL-Cholesterol; Registry.

PubMed Disclaimer

Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Although no funding was provided directly to generate this invited article on an overview of the EAS FH Studies Collaboration (FHSC) project, the EAS FHSC has been/is supported by investigator-initiated research grants to Imperial College London from Pfizer [No: 16,157,823], Amgen, MSD, Sanofi-Aventis, Daiichi-Sankyo, and Regeneron. In addition, Ms Dharmayat acknowledges support from a PhD Studentship from the National Institute for Health Research (NIHR) under the Applied Health Research (ARC) programme for North West London, United Kingdom (the views expressed in this publication are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health). Dr. Vallejo-Vaz acknowledges support from “Programa Beatriz Galindo” from the Ministry of Universities of Spain and University of Seville, Spain. Prof. Ray acknowledges support from the National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, United Kingdom.

Figures

Fig. 1
Fig. 1
Global representation of countries with investigators participating in the EAS FHSC: Afghanistan; Argentina; Australia; Austria; Bahrain; Belgium; Bosnia & Herzegovina; Brazil; Bulgaria; Canada; Chile; China; Hong Kong; Croatia; Cyprus; Czech Republic; Denmark; Dominican Republic; Egypt; Estonia; France; Germany; Greece; Hungary; India; Indonesia; Iran; Iraq; Ireland; Israel; Italy; Japan; Jordon; Kazakhstan; Kuwait; Kyrgyzstan; Latvia; Lebanon; Lithuania; Luxembourg; Malaysia; Malta; Mexico; Netherlands; Nigeria; Norway; Oman; Pakistan; Poland; Portugal; Romania; Russia; Saudi Arabia; Serbia; Sri Lanka; Sudan; Singapore; Slovakia; Slovenia; South Africa; Spain; Switzerland; Syria; Taiwan; Thailand; Turkey; Ukraine; United Arab Emirates; United Kingdom; Uruguay; Uzbekistan; Venezuela; Vietnam; Yemen.
See this image and copyright information in PMC

References

    1. Khera A.V., Won H.H., Peloso G.M., et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol. 2016;67(22):2578–2589. doi: 10.1016/j.jacc.2016.03.520. - DOI - PMC - PubMed
    1. Sturm A.C., Knowles J.W., Gidding S.S., et al. Convened by the familial hypercholesterolemia foundation. Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel. J Am Coll Cardiol. 2018;72(6):662–680. doi: 10.1016/j.jacc.2018.05.044. - DOI - PubMed
    1. Gidding S.S., Champagne M.A., de Ferranti S.D., et al. American heart association Atherosclerosis, hypertension, and obesity in young committee of council on cardiovascular disease in young, council on cardiovascular and stroke nursing, council on functional genomics and translational biology, and council on lifestyle and cardiometabolic health. The agenda for familial hypercholesterolemia: a scientific statement from the American heart association. Circulation. 2015;132(22):2167–2192. doi: 10.1161/CIR.0000000000000297. - DOI - PubMed
    1. Nordestgaard B.G., Chapman M.J., Humphries S.E., et al. European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45) doi: 10.1093/eurheartj/eht273. 3478-90a. - DOI - PMC - PubMed
    1. Hu P., Dharmayat K.I., Stevens C.A.T., et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis. Circulation. 2020;141:1742–1759. doi: 10.1161/CIRCULATIONAHA.119.044795. - DOI - PubMed

MeSH terms

Substances