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Article

A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.

Atherosclerosis. Supplements - 1 Jan 2013

Stefanutti Claudia, Gozzer Maria, Pisciotta Livia, D'Eufemia Patrizia, Bosco Giovanna, Morozzi Claudia, Papadia Francesco, Shafii Manhaz, Di Giacomo Serafina, Bertolini Stefano

Abstract excerpt

OBJECTIVE: Chylomicronemia syndrome presenting in childhood is a rare recessive disorder due to mutations of lipoprotein lipase (LPL) and more rarely of APOC2, APOA5, GPIHBP1 or LMF1 genes. It often requires urgent and suitable treatment to avoid acute pancreatitis. The aim of this study was the molecular characterization and treatment of a 3 month-old infant with plasma triglycerides (TG) > 300 mmol/L. METHODS:...

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Source

Identifiers

PMID: 23357145
DOI: 10.1016/j.atherosclerosissup.2012.10.020

Genes

LPL
APOA5
APOC2
GPIHBP1
LMF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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