title: Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.
abstract: Gaucher 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.
authors.affiliation: Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
authors.forename: Geertje M
authors.initials: GM
authors.lastname: de Boer
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Laura
authors.initials: L
authors.lastname: van Dussen
authors.affiliation: Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
authors.forename: Leon M
authors.initials: LM
authors.lastname: van den Toorn
authors.affiliation: Department of Clinical Pathology, Maasstad Hospital, Rotterdam, The Netherlands.
authors.forename: Michael A
authors.initials: MA
authors.lastname: den Bakker
authors.affiliation: Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
authors.forename: Rogier A S
authors.initials: RA
authors.lastname: Hoek
authors.affiliation: Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
authors.forename: Dennis A
authors.initials: DA
authors.lastname: Hesselink
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.affiliation: Department of Respiratory Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. Electronic address: p.vanhal@zzv.nl.
authors.forename: Peter Th W
authors.initials: PT
authors.lastname: van Hal
mesh_terms: D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000473:pathology / Q000601:surgery*; D006801:Humans; D016040:Lung Transplantation; D008875:Middle Aged; D018579:Patient Selection; D011658:Pulmonary Fibrosis / Q000209:etiology / Q000473:pathology / Q000601:surgery*
keywords: Gaucher disease; adult; complications; lung transplantation