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Article

Homozygous variant in LMF-1 identified in 3 Colombian families.

Journal of clinical lipidology - 1 Mar 2026

Vallejo Santiago, Armijos Jessica Cristina, Estrada Escobar Ricardo Andres, Perez Manuel, Jaramillo Pablo, Nova Alejandra, Gonzalez Juanita, Fariña Gregorio, Berg Gabriela, Valero Rene, Nogueira Juan Patricio

Abstract excerpt

BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by extreme hypertriglyceridemia (>1000 mg/dL), recurrent pancreatitis, and lipoprotein lipase (LPL) deficiency. FCS is caused by biallelic loss-of-function variants in LPL or in 4 other genes encoding its cofactors and regulators, including LMF1 (lipase maturation factor 1). Variants in LMF1 are rare and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41633911
DOI: 10.1016/j.jacl.2026.01.005

Genes

LMF1
LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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