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
. 2024 Jul;85(1):122-133.
doi: 10.1007/s12020-024-03763-x. Epub 2024 Mar 8.

Peripheral artery disease: an underdiagnosed condition in familial hypercholesterolemia? A systematic review

Elisa Acitelli  1 , Alexis F Guedon  2 , Sara De Liguori  1 , Antonio Gallo #  3 , Marianna Maranghi #  4
Affiliations

Peripheral artery disease: an underdiagnosed condition in familial hypercholesterolemia? A systematic review

Elisa Acitelli et al. Endocrine. 2024 Jul.

Abstract

Purpose: Familial hypercholesterolemia (FH) is one of the most common inherited diseases characterized by elevated LDL-cholesterol levels, leading to early-onset atherosclerosis. While the association between FH and coronary and carotid artery disease is well-established, its association with peripheral artery disease (PAD) is less robust. This systematic review aims at exploring existing evidence on PAD prevalence and incidence in FH individuals.

Methods: A comprehensive search was conducted on MEDLINE and Embase databases, for studies published between January 2013 and December 2023, evaluating prevalence and incidence of PAD in FH patients. Literature reviews, case reports, responses to editors and non-English language articles were excluded.

Results: The initial research provided 53 results. After article screening, 28 articles were fully reviewed and 24 were finally included in the analysis. Among these, 19 reported PAD prevalence, while 5 PAD incidence over a mean follow-up time of 8.7 years. PAD prevalence and incidence ranged from 0.3 to 60% and from 0.5 to 4.2% respectively, probably reflecting the heterogeneity in PAD definition criteria.

Conclusion: This systematic review sheds light on the limited number of studies on PAD in FH patients. Particularly, considering the potential positive effects of newly available lipid-lowering strategies on PAD outcomes, addressing this research gap is pivotal for a more comprehensive understanding of peripheral vascular manifestations in FH patients and for optimal management of this population.

Keywords: Atherosclerosis; Dyslipidemia; Hypercholesterolemia; LDL-cholesterol; Peripheral vascular disease.

PubMed Disclaimer

Conflict of interest statement

M.M. worked as principal investigator in clinical trials supported by Novo Nordisk. A.G. received consulting fees or payments for lectures, presentations, manuscript writing or educational events from AMGEN, Sanofi and Regeron, Mylan, Ackea Therapeutics, Novartis, MSD, Servier, Ultragenyx. A.G. declares having received support for attending meetings and/or travel by Amryt, Novartis, Ultragenyx and Sanofi, and participated on a data safety monitoring board or advisory board for Sanofi and Ultragenyx.

References

    1. EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet 398, 1713–1725 (2021). 10.1016/S0140-6736(21)01122-3 - PubMed
    1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am. J. Epidemiol. 2004;160:407–420. doi: 10.1093/aje/kwh236. - DOI - PubMed
    1. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, 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;34:3478–3490a. doi: 10.1093/eurheartj/eht273. - DOI - PMC - PubMed
    1. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J. Clin. Endocrinol. Metab. 2012;97:3956–3964. doi: 10.1210/jc.2012-1563. - DOI - PubMed
    1. Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, Genest J, Ray KK, Vallejo-Vaz AJ. 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

Publication types

MeSH terms

LinkOut - more resources