Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase geneAll Scholarly Works
Document TypeArticle, Peer-reviewed
AbstractBACKGROUND: Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. FINDINGS: An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. CONCLUSIONS: We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.
Citation InformationSoto AG, McIntyre A, Agrawal S, Bialo SR, Hegele RA, Boney CM. Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene. Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene. Lipids Health Dis. 2015 Sep 4; 14(1):102.