Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease

Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestat...

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Main Authors:	Mhanni, A.A., Kozenko, M., Hartley, J.N., Deneau, M., El-Matary, W., Rockman-Greenberg, C.
Format:	Online
Language:	English
Published:	Elsevier 2015
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789350/

id	pubmed-4789350
recordtype	oai_dc
spelling	pubmed-47893502016-03-24 Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease Mhanni, A.A. Kozenko, M. Hartley, J.N. Deneau, M. El-Matary, W. Rockman-Greenberg, C. Short Communication Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1), acute neuronopathic (type 2) and chronic neuronopathic (type 3). Typical manifestations include hepatosplenomegaly, skeletal deformities, hematological abnormalities, interstitial lung fibrosis and neurodegeneration in neuronopathic cases. Mesenteric lymphadenopathy with resultant protein losing enteropathy (PLE) has only been rarely described. Mesenteric lymphadenopathy may lead to intestinal lymphatic obstruction and secondary lymphangiectasia resulting in chronic diarrhea, abdominal pain and weight loss. Fecal protein loss with secondary hypoalbuminemia can be significant. We report a male with Chronic Neuronopathic Gaucher disease (GD) (homozygous for c.1448T > C (NM_000157.3) GBA mutation) who at 16 years of age developed intractable abdominal pain, diarrhea and weight loss. This was caused by PLE secondary to intestinal lymphangiectasia caused by calcified mesenteric lymphadenopathy despite prior long term enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT). His older similarly affected sister who had been receiving treatment with ERT and/or SRT remains stable on these treatments with no evidence of mesenteric lymphadenopathy. Medical management with total parenteral nutrition, daily medium chain triglyceride-oil (MCT) supplementation, low dose oral budesonide, continued oral SRT and an increased dose of parenteral ERT has stabilized his condition with resolution of the gastrointestinal symptoms and appropriate weight gain. Elsevier 2015-12-29 /pmc/articles/PMC4789350/ /pubmed/27014572 http://dx.doi.org/10.1016/j.ymgmr.2015.12.001 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Mhanni, A.A. Kozenko, M. Hartley, J.N. Deneau, M. El-Matary, W. Rockman-Greenberg, C.
spellingShingle	Mhanni, A.A. Kozenko, M. Hartley, J.N. Deneau, M. El-Matary, W. Rockman-Greenberg, C. Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
author_facet	Mhanni, A.A. Kozenko, M. Hartley, J.N. Deneau, M. El-Matary, W. Rockman-Greenberg, C.
author_sort	Mhanni, A.A.
title	Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
title_short	Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
title_full	Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
title_fullStr	Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
title_full_unstemmed	Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
title_sort	successful therapy for protein-losing enteropathy caused by chronic neuronopathic gaucher disease
description	Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1), acute neuronopathic (type 2) and chronic neuronopathic (type 3). Typical manifestations include hepatosplenomegaly, skeletal deformities, hematological abnormalities, interstitial lung fibrosis and neurodegeneration in neuronopathic cases. Mesenteric lymphadenopathy with resultant protein losing enteropathy (PLE) has only been rarely described. Mesenteric lymphadenopathy may lead to intestinal lymphatic obstruction and secondary lymphangiectasia resulting in chronic diarrhea, abdominal pain and weight loss. Fecal protein loss with secondary hypoalbuminemia can be significant. We report a male with Chronic Neuronopathic Gaucher disease (GD) (homozygous for c.1448T > C (NM_000157.3) GBA mutation) who at 16 years of age developed intractable abdominal pain, diarrhea and weight loss. This was caused by PLE secondary to intestinal lymphangiectasia caused by calcified mesenteric lymphadenopathy despite prior long term enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT). His older similarly affected sister who had been receiving treatment with ERT and/or SRT remains stable on these treatments with no evidence of mesenteric lymphadenopathy. Medical management with total parenteral nutrition, daily medium chain triglyceride-oil (MCT) supplementation, low dose oral budesonide, continued oral SRT and an increased dose of parenteral ERT has stabilized his condition with resolution of the gastrointestinal symptoms and appropriate weight gain.
publisher	Elsevier
publishDate	2015
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789350/
_version_	1613551015951335424

Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease

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