Open AccessIntrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
Author(s) -
Cristina Molera,
Tinatin Sarishvili,
A. Nascimento,
Irakli Rtskhiladze,
Gema Muñoz Bartolo,
S. Fernández Cebrián,
Justo Valverde Fernández,
Beatriz Muñoz Cabello,
Robert J. Graham,
Weston P. Miller,
Bryan Sepulveda,
Binita M. Kamath,
Hui Meng,
Michael W. Lawlor
Publication year - 2022
Publication title -
journal of neuromuscular diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.366
H-Index - 23
eISSN - 2214-3602
pISSN - 2214-3599
DOI - 10.3233/jnd-210712
Subject(s) - medicine , progressive familial intrahepatic cholestasis , cholestasis , natural history , respiratory distress , liver biopsy , disease , myopathy , pediatrics , weakness , gastroenterology , pathology , biopsy , surgery , transplantation , liver transplantation
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.