Lipodystrophy, NAFLD and Pancreatic Neuroendocrine Tumor in a Patient with LIPE Mutation

The LIPE gene encodes hormone-sensitive lipase, also known as cholesteryl ester hydrolase that converts chlesteryl esters to free cholesterol to generate fatty acid and monglyceride. The enzyme is expressed in adipose tissues and functions to mobilize fats for use as energy. Mutation of LIPE has been shown to be involved in the development of lipodystrophies. Herein, we report a novel mutation of LIPE resulting in a lipodystrophy phenotype and the first report of an association with, non-alcoholic fatty liver disease (NAFLD) and a pancreatic neuroendocrine tumor (PNET). An understanding of this mutation may shed light on the role of this gene in the development of NAFLD and PNET and therefore deserves further study.

Author(s): Jeremy Wang, Jihane N Benhammou, Wayne Grody and Joseph R Pisegna

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