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BMJ Case Reports 2016; doi:10.1136/bcr-2015-212587
  • CASE REPORT

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses

  1. Andrew C Martin2,3
  1. 1Telethon Kids Institute, West Perth, Western Australia, Australia
  2. 2School of Paediatrics and Child Health, University of Western Australia, Crawley, Western Australia, Australia
  3. 3Department of General Paediatrics, Princess Margaret Hospital for Children, Subiaco, Western Australia, Australia
  4. 4Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth and Fiona Stanley Hospital Network, Perth, Western Australia, Australia
  5. 5School of Medicine and Pharmacology, University of Western Australia, Crawley, Western Australia, Australia
  1. Correspondence to Dr Lauren S Akesson, Lauren.Akesson{at}telethonkids.org.au
  • Accepted 13 January 2016
  • Published 29 January 2016

Summary

Lipoprotein lipase (LPL), a member of the triglyceride lipase gene family, is synthesised by parenchymal cells of the heart, skeletal muscle and adipose tissues before being transported to luminal surfaces of vascular endothelial cells to exert its main physiological function to hydrolyse plasma lipoproteins. LPL deficiency is a rare autosomal recessive disorder, resulting in severe hypertriglyceridaemia from birth. The effect of marked hypertriglyceridaemia on the immune function in children has not been described. We present a case of a neonate with LPL deficiency and grossly elevated plasma triglyceride levels, presenting with recurrent and recalcitrant perianal abscesses suggestive of underlying immunodeficiency. With reduced levels of plasma triglycerides, the recurrent perianal infections resolved. This case report reviews evidence for potential deleterious effects of hypertriglyceridaemia on immune function, however, underlying mechanisms are poorly understood. Whether hypertriglyceridaemia contributes to immune dysfunction in this context is unknown. If there is a pathophysiological link, this may have implications for hypertriglyceridaemia management.

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