• Geertje M de Boer, Laura van Dussen, Leon M van den Toorn, Michael A den Bakker, Rogier A S Hoek, Dennis A Hesselink, Carla E M Hollak, and Peter Th W van Hal.
• Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
• Chest. 2016 Jan 1; 149 (1): e1-5.

AbstractGaucher disease (GD), a lysosomal storage disorder, may result in end-stage lung disease. We report successful bilateral lung transplantation in a 49-year-old woman with GD complicated by severe pulmonary hypertension and fibrotic changes in the lungs. Before receiving the lung transplant, the patient was undergoing both enzyme replacement therapy (imiglucerase) and triple pulmonary hypertension treatment (epoprostenol, bosentan, and sildenafil). She had a history of splenectomy, severe bone disease, and renal involvement, all of which were related to GD and considered as relative contraindications for a lung transplantation. In the literature, lung transplantation has been suggested for severe pulmonary involvement in GD but has been reported only once in a child. To our knowledge, until now, no successful procedure has been reported in adults, and no reports deal with the severe potential posttransplantation complications specifically related to GD.Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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