Familial Combined Hyperlipidemia: Myth or Reality?

IF 5.7 2区医学 Q1 PERIPHERAL VASCULAR DISEASE

Current Atherosclerosis Reports Pub Date : 2025-04-01 DOI:10.1007/s11883-025-01289-9

M C G J Brouwers, B Klop, J Ribalta, M Castro Cabezas

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Abstract

Purpose of review: Familial combined hyperlipidemia (FCHL) was first described by Goldstein and co-workers in 1973 as a multiple-type hyperlipidemia in pedigrees with premature myocardial infarction. However, it can be questioned what actually defines FCHL.

Recent findings: Although initially regarded as an autosomal dominant disorder, quantitative trait linkage analyses have revealed multiple genes that are associated with the FCHL phenotype. With the advent of genome-wide association studies and next generation sequencing it has been confirmed that FCHL is a polygenic disorder and the associated gene variants, mostly with a triglyceride-raising effect, are not unique to FCHL. Furthermore, epidemiological studies have demonstrated that the multiple-type hyperlipidemia is also not specifically confined to FCHL. This review provides a historical overview of the metabolic and genetic abnormalities that characterize FCHL. Integration of these findings with recent population-based, genetic studies results in a new pathophysiological concept of FCHL. This model provides practical guidance on how to approach an individual patient with an 'FCHL phenotype'.

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来源期刊

Current Atherosclerosis Reports 医学-

CiteScore

9.00

自引率

3.40%

发文量

审稿时长

6-12 weeks

期刊介绍： The aim of this journal is to systematically provide expert views on current basic science and clinical advances in the field of atherosclerosis and highlight the most important developments likely to transform the field of cardiovascular prevention, diagnosis, and treatment. We accomplish this aim by appointing major authorities to serve as Section Editors who select leading experts from around the world to provide definitive reviews on key topics and papers published in the past year. We also provide supplementary reviews and commentaries from well-known figures in the field. An Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research.