Lipoprotein Metabolism in Familial Hypercholesterolemia - Sorbonne Université
Journal Articles Journal of Lipid Research Year : 2021

Lipoprotein Metabolism in Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL cholesterol levels often leading to premature cardiovascular events. In this review we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH phenotype as well as the most recent in vitro experimental approaches used to investigate molecular defects affecting the LDL receptor pathway. In addition, we review perturbations in the metabolism of lipoproteins other than LDL in FH, with a major focus on lipoprotein (a). Finally, we discuss the mode of action and efficacy of many of the currently approved hypocholesterolemic agents used to treat FH patients, with a special emphasis on the treatment of phenotypically more severe forms of FH.
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Dates and versions

hal-03163500 , version 1 (09-03-2021)

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Kévin Chemello, Javier García-Nafría, Antonio Gallo, Cesar Martín, Gilles Lambert, et al.. Lipoprotein Metabolism in Familial Hypercholesterolemia. Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩. ⟨hal-03163500⟩
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