• Angela Ganan Soto, Adam McIntyre, Sungeeta Agrawal, Shara R Bialo, Robert A Hegele, and Charlotte M Boney.
• Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA.
• Lipids Health Dis. 2015 Sep 4; 14: 102.

BackgroundLipoprotein 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.FindingsAn 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.ConclusionsWe 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.

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