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Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliar...

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Autores principales: Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J., Miller, Weston, Sepulveda, Bryan, Kamath, Binita M., Meng, Hui, Lawlor, Michael W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/
https://www.ncbi.nlm.nih.gov/pubmed/34366366
http://dx.doi.org/10.3233/JND-210712
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author Molera, Cristina
Sarishvili, Tinatin
Nascimento, Andrés
Rtskhiladze, Irakli
Muñoz Bartolo, Gema
Fernández Cebrián, Santiago
Valverde Fernández, Justo
Muñoz Cabello, Beatriz
Graham, Robert J.
Miller, Weston
Sepulveda, Bryan
Kamath, Binita M.
Meng, Hui
Lawlor, Michael W.
author_facet Molera, Cristina
Sarishvili, Tinatin
Nascimento, Andrés
Rtskhiladze, Irakli
Muñoz Bartolo, Gema
Fernández Cebrián, Santiago
Valverde Fernández, Justo
Muñoz Cabello, Beatriz
Graham, Robert J.
Miller, Weston
Sepulveda, Bryan
Kamath, Binita M.
Meng, Hui
Lawlor, Michael W.
author_sort Molera, Cristina
collection PubMed
description X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care.
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spelling pubmed-88427552022-03-02 Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report Molera, Cristina Sarishvili, Tinatin Nascimento, Andrés Rtskhiladze, Irakli Muñoz Bartolo, Gema Fernández Cebrián, Santiago Valverde Fernández, Justo Muñoz Cabello, Beatriz Graham, Robert J. Miller, Weston Sepulveda, Bryan Kamath, Binita M. Meng, Hui Lawlor, Michael W. J Neuromuscul Dis Research Report X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care. IOS Press 2022-01-04 /pmc/articles/PMC8842755/ /pubmed/34366366 http://dx.doi.org/10.3233/JND-210712 Text en © 2022 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Report
Molera, Cristina
Sarishvili, Tinatin
Nascimento, Andrés
Rtskhiladze, Irakli
Muñoz Bartolo, Gema
Fernández Cebrián, Santiago
Valverde Fernández, Justo
Muñoz Cabello, Beatriz
Graham, Robert J.
Miller, Weston
Sepulveda, Bryan
Kamath, Binita M.
Meng, Hui
Lawlor, Michael W.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title_full Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title_fullStr Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title_full_unstemmed Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title_short Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
title_sort intrahepatic cholestasis is a clinically significant feature associated with natural history of x-linked myotubular myopathy (xlmtm): a case series and biopsy report
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/
https://www.ncbi.nlm.nih.gov/pubmed/34366366
http://dx.doi.org/10.3233/JND-210712
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