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Lipoprotein Lipase: Structure, Function, and Genetic Variation

5 Jan 2025

Abstract excerpt

Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated...

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PMID: 39858602
DOI: 10.3390/genes16010055

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