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Article

Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.

The Journal of clinical endocrinology and metabolism - 1 Jul 2005

Pruneta-Deloche Valérie, Marçais Christophe, Perrot Laurence, Sassolas Agnès, Delay Mireille, Estour Bruno, Lagarde Michel, Moulin Philippe

Abstract excerpt

CONTEXT: Sporadic hyperchylomicronemia (type V hyperlipoproteinemia) results from complex interactions between genetic and environmental factors that often remain unknown. DESIGN: Upon investigation of a patient suffering from recurrent hypertriglyceridemic pancreatitis without family history or conventional secondary cause of dyslipidemia, we identified a previously unreported nonsense heterozygous lipoprotein...

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Source

Identifiers

PMID: 15840743
DOI: 10.1210/jc.2005-0205

Genes

LPL

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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