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Article

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.

Atherosclerosis - 1 Apr 2021

Lima Josivan Gomes, Helena C Nobrega Lucia, Moura Bandeira Flora Tamires, Pires Sousa Andre Gustavo, Medeiros de Araujo Macedo Taisa Barreto, Cavalcante Nogueira Ana Claudia, Fernandes de Oliveira Filho Antonio, Alves Renato Jorge, Costa Gurgel Castelo Maria Helane, Silva Coelho Fabiana Maria, Maia Rayana Elias, Lima Debora Nobrega, Timoteo Ana Rafaela de Souza, de Melo Campos Julliane Tamara Araujo

Abstract excerpt

BACKGROUND AND AIMS: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. METHODS: We describe twelve patients (nine women) with a novel homozygous mutation in intron 2 of the GPIHBP1 gene. RESULTS: All patients were from the...

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PMID: 33706081
DOI: 10.1016/j.atherosclerosis.2021.02.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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