title: Long-term outcomes of liver transplantation in type 1 Gaucher disease.
abstract: Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Enzyme replacement therapy (ERT) has demonstrable efficacy in reversing clinical and pathological manifestations of GD. We report four patients with GD and severe hepatic impairment who were successfully treated by orthotopic liver transplantation. Liver failure resulted from GD in two patients and due to a comorbidity in two others (HCV and autoimmune chronic active hepatitis). Following successful liver transplantation, patients received long-term ERT. Liver transplantation is a life-saving treatment for end-stage liver disease in patients with Gaucher disease. All four patients have had excellent outcomes from liver transplantation for up to 10 years postprocedure with no evidence of Gaucher-related pathology in the graft.
authors.affiliation: Department of Haematology, University College London Medical School, London, UK. r.ayto@medsch.ucl.ac.uk
authors.forename: R M
authors.initials: RM
authors.lastname: Ayto
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
authors.forename: P
authors.initials: P
authors.lastname: Jeevaratnam
authors.forename: K
authors.initials: K
authors.lastname: Rolles
authors.forename: A K
authors.initials: AK
authors.lastname: Burroughs
authors.forename: P K
authors.initials: PK
authors.lastname: Mistry
authors.forename: A B
authors.initials: AB
authors.lastname: Mehta
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D056947:Enzyme Replacement Therapy; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D017093:Liver Failure / Q000209:etiology* / Q000601:surgery*; D016031:Liver Transplantation; D008297:Male; D016896:Treatment Outcome