Lipoprotein lipase deficiency presenting with neonatal perianal abscesses

L.S. Akesson, John R. Burnett, Divyesh K. Mehta, Andrew C. Martin

    Research output: Contribution to journalArticle

    2 Citations (Scopus)

    Abstract

    Copyright 2016 BMJ Publishing Group. All rights reserved. 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.
    Original languageEnglish
    Pages (from-to)1-4
    Number of pages4
    JournalBMJ Case Reports
    Volume2016
    DOIs
    Publication statusPublished - 2016

    Fingerprint

    Dive into the research topics of 'Lipoprotein lipase deficiency presenting with neonatal perianal abscesses'. Together they form a unique fingerprint.

    Cite this