Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.
BACKGROUND
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.


RESULTS
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.
Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA.
Angela Ganan
AG
Soto
Robarts Research Institute, Western University, London, ON, Canada.
Adam
A
McIntyre
Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA.
Sungeeta
S
Agrawal
Department of Pediatrics, Rhode Island Hospital and Brown University, Providence, RI, USA.
Shara R
SR
Bialo
Robarts Research Institute, Western University, London, ON, Canada.
Robert A
RA
Hegele
Baystate Children's Hospital, 759 Chestnut Ave S584, Springfield, MA, USA. charlotte.boneymd@baystatehealth.org.
Charlotte M
CM
Boney
D005091:Exons; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D008297:Male; D008551:Melena / Q000473:pathology; D009154:Mutation; D014839:Vomiting / Q000473:pathology; D014973:Xanthomatosis / Q000473:pathology
C548261:LPL protein, human; D008071:Lipoprotein Lipase