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Article

A novel homozygous variant in GPIHBP1: A case series of familial chylomicronemia syndrome from Colombia.

Journal of clinical lipidology - 1 Jan 2025

González Alejandro Román, Arroyo-Ripoll Oriana F, Garcia-Ramos Andrés F, Monsalve Claudia, Daguer Salomon, Barón Francisco, Berg Gabriela, Fariña Gregorio, Zuluaga Nora Alejandra, Forero Adriana Carolina, Nogueira Juan Patricio

Abstract excerpt

Familial chylomicronemia syndrome (FCS) is a rare monogenic disorder characterized by severe hypertriglyceridemia caused by pathogenic variants in genes involved in triglyceride metabolism. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) plays a critical role in the lipolytic processing of triglyceride-rich lipoproteins. We present 3 unrelated cases of FCS with a newly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40774864
DOI: 10.1016/j.jacl.2025.06.006

Genes

GPIHBP1
LPL

Variants

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