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Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation of glycolipid-laden macrophages but it is not k...

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Autores principales: Beshlawy, Amal El, Murugesan, Vagishwari, Mistry, Pramod Kumar, Eid, Khaled
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606832/
https://www.ncbi.nlm.nih.gov/pubmed/31309038
http://dx.doi.org/10.1016/j.ymgmr.2019.100490
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author Beshlawy, Amal El
Murugesan, Vagishwari
Mistry, Pramod Kumar
Eid, Khaled
author_facet Beshlawy, Amal El
Murugesan, Vagishwari
Mistry, Pramod Kumar
Eid, Khaled
author_sort Beshlawy, Amal El
collection PubMed
description Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation of glycolipid-laden macrophages but it is not known whether advanced fibrotic features of the disease can be ameliorated. We describe a splenectomized patient with Gaucher disease who developed massive hepatomegaly, cirrhosis of the liver and life-threatening hepatopulmonary syndrome. Treatment with Imiglucerase enzyme replacement therapy resulted in dramatic reversal of hepatopulmonary syndrome and liver disease. Our report suggests that Gaucher disease pathology involving advanced fibrosis and life-threatening complications can be reversed by imiglucerase enzyme therapy. SYNOPSIS: Effect of imiglucerase enzyme replacement therapy on Hepatopulmonary Syndrome in Gaucher Disease.
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spelling pubmed-66068322019-07-15 Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy Beshlawy, Amal El Murugesan, Vagishwari Mistry, Pramod Kumar Eid, Khaled Mol Genet Metab Rep Case Report Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation of glycolipid-laden macrophages but it is not known whether advanced fibrotic features of the disease can be ameliorated. We describe a splenectomized patient with Gaucher disease who developed massive hepatomegaly, cirrhosis of the liver and life-threatening hepatopulmonary syndrome. Treatment with Imiglucerase enzyme replacement therapy resulted in dramatic reversal of hepatopulmonary syndrome and liver disease. Our report suggests that Gaucher disease pathology involving advanced fibrosis and life-threatening complications can be reversed by imiglucerase enzyme therapy. SYNOPSIS: Effect of imiglucerase enzyme replacement therapy on Hepatopulmonary Syndrome in Gaucher Disease. Elsevier 2019-06-28 /pmc/articles/PMC6606832/ /pubmed/31309038 http://dx.doi.org/10.1016/j.ymgmr.2019.100490 Text en © 2019 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/).
spellingShingle Case Report
Beshlawy, Amal El
Murugesan, Vagishwari
Mistry, Pramod Kumar
Eid, Khaled
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title_full Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title_fullStr Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title_full_unstemmed Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title_short Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy
title_sort reversal of life-threatening hepatopulmonary syndrome in gaucher disease by imiglucerase enzyme replacement therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606832/
https://www.ncbi.nlm.nih.gov/pubmed/31309038
http://dx.doi.org/10.1016/j.ymgmr.2019.100490
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