Articles producció científica> Medicina i Cirurgia

Familial Combined Hyperlipidemia: Myth or Reality?

  • Dades identificatives

    Identificador: imarina:9452253
    Autors:
    Brouwers, M C G JKlop, BRibalta, JCabezas, M Castro
    Resum:
    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'.
  • Altres:

    Autor segons l'article: Brouwers, M C G J; Klop, B; Ribalta, J; Cabezas, M Castro
    Departament: Medicina i Cirurgia
    Autor/s de la URV: Ribalta Vives, Josep
    Paraules clau: 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
    Resum: 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'.
    Grup de recerca: Unitat de Recerca de Lípids i Arteriosclerosi
    Àrees temàtiques: Cardiology and cardiovascular medicine General medicine Interdisciplinar Medicina i Medicina ii Peripheral vascular disease
    Accès a la llicència d'ús: https://creativecommons.org/licenses/by/3.0/es/
    Adreça de correu electrònic de l'autor: josep.ribalta@urv.cat
    Identificador de l'autor: 0000-0002-8879-4719
    Data d'alta del registre: 2025-04-30
    Versió de l'article dipositat: info:eu-repo/semantics/publishedVersion
    Referència a l'article segons font original: Current Atherosclerosis Reports. 27 (1): 45-
    Referència de l'ítem segons les normes 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
    URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
    Entitat: Universitat Rovira i Virgili
    Any de publicació de la revista: 2025
    Tipus de publicació: Journal Publications
  • Paraules clau:

    Cardiology and Cardiovascular Medicine,Peripheral Vascular Disease
    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
    Cardiology and cardiovascular medicine
    General medicine
    Interdisciplinar
    Medicina i
    Medicina ii
    Peripheral vascular disease
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