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Familial hypercholesterolemia is a genetic disorder driven by variants in the LDL receptor pathway that affect lipoprotein metabolism, which can be managed with targeted hypocholesterolemic agents. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

January 1, 2021Open Access

Lipoprotein metabolism in familial hypercholesterolemia

KCKévin ChemelloUNSW Sydney JGJavier García‐NafríaUniversidad de Zaragoza AGAntonio GalloSorbonne Université

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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-C 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 patients with FH, with a special emphasis on the treatment of phenotypically more severe forms of FH.

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