title: Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
abstract: Fabry disease (FD) is a progressive, multi-organ, lysosomal storage disease. Enzyme replacement therapy (ERT) is available for the treatment of the disease. While the reasons to initiate ERT have been frequently discussed, discontinuation of ERT is rarely reported. In this paper we describe our experiences with stopping ERT in FD. From 1999 through 2015, twenty-one patients discontinued ERT. These patients were generally older and more severely affected in comparison those who continued ERT. The reason to discontinue ERT switched from death or terminal illness in the first years towards treatment failure in more recent years. Three cases are described in more detail. We conclude that discontinuation of ERT should or may be considered in subgroups of FD patients although further studies on the effectiveness of ERT in subgroups of patients and the course of the disease after discontinuation of ERT are needed.
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam 1100 DD, The Netherlands. Electronic address: m.arends@amc.uva.nl.
authors.forename: Maarten
authors.initials: M
authors.lastname: Arends
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam 1100 DD, The Netherlands. Electronic address: g.e.linthorst@amc.uva.nl.
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam 1100 DD, The Netherlands. Electronic address: c.e.hollak@amc.uva.nl.
authors.forename: Carla E
authors.initials: CE
authors.lastname: Hollak
authors.affiliation: Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam 1100 DD, The Netherlands. Electronic address: m.biegstraaten@amc.uva.nl.
authors.forename: Marieke
authors.initials: M
authors.lastname: Biegstraaten
mesh_terms: D000328:Adult; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000188:drug therapy* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D012189:Retrospective Studies; D017211:Treatment Failure; D016312:Treatment Refusal; D028761:Withholding Treatment
keywords: Agalsidase; Discontinuation; ERT; Enzyme replacement therapy; Fabry disease