Lung Transplantation in Gaucher Disease A Learning Lesson in Trying to Avoid Both Scylla and Charybdis

Gatske Nieuwenhuyzen - de Boer, L van der Dussen, Leon van den Toorn, MA den Bakker, R.A.S. Hoek, Dennis Hesselink, CEM Hollak, PTW Hal

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)

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.
Original languageUndefined/Unknown
Pages (from-to)E1-E5
JournalChest
Volume149
Issue number1
DOIs
Publication statusPublished - 2016

Research programs

  • EMC MM-03-24-01
  • EMC MM-04-39-05
  • EMC MM-04-42-02

Cite this