Author, as appears in the article.: Brouwers, M C G J; Klop, B; Ribalta, J; Cabezas, M Castro
Department: Medicina i Cirurgia
URV's Author/s: Ribalta Vives, Josep
Keywords: 5-year follow-up Complement component-3 Coronary-heart-disease Fatty liver disease Fatty-acid suppression Free fatty acids Gene-cluster Genetic predisposition to disease Genome-wide association study Humans Hyperlipidemia Hyperlipidemia, familial combined Insulin-resistance Ldl-cholesterol Lipoprotein-lipase Metabolis Phenotype Plasma triglycerides Triglycerides Vldl overproductio Vldl overproduction
Abstract: Purpose of ReviewFamilial 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 FindingsAlthough 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.SummaryThis 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'.
Research group: Unitat de Recerca de Lípids i Arteriosclerosi
Thematic Areas: Cardiology and cardiovascular medicine General medicine Interdisciplinar Medicina i Medicina ii Peripheral vascular disease
licence for use: https://creativecommons.org/licenses/by/3.0/es/
Author's mail: josep.ribalta@urv.cat
Author identifier: 0000-0002-8879-4719
Record's date: 2025-04-30
Paper version: info:eu-repo/semantics/publishedVersion
Paper original source: Current Atherosclerosis Reports. 27 (1): 45-
APA: Brouwers, M C G J; Klop, B; Ribalta, J; Cabezas, M Castro (2025). Familial Combined Hyperlipidemia: Myth or Reality?. Current Atherosclerosis Reports, 27(1), 45-. DOI: 10.1007/s11883-025-01289-9
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Entity: Universitat Rovira i Virgili
Journal publication year: 2025
Publication Type: Journal Publications
Repositori URV