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Article

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.

European journal of human genetics : EJHG - 1 Sept 2015

Kassner Ursula, Salewsky Bastian, Wühle-Demuth Marion, Szijarto Istvan Andras, Grenkowitz Thomas, Binner Priska, März Winfried, Steinhagen-Thiessen Elisabeth, Demuth Ilja

Abstract excerpt

Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patients with LPL deficiency and severe or recurrent pancreatitis are eligible for the first gene therapy treatment...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Substitution
Share to Hypertriglyceridemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lipoprotein Lipase

Share to Mutation, Missense

Share to Pancreatitis, Chronic

Share to Receptors, Lipoprotein

Share to Severity of Illness Index

Share to Triglycerides

Source

Open in PubMed Open full text

Identifiers

PMID: 25585702
DOI: 10.1038/ejhg.2014.295
PMCID: PMC4538214

Genes

LPL
GPIHBP1
APOA5
APOC2
LMF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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