Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Orphanet Journal of Rare Diseases

Carla EM Hollak^1,17  Peter Woolfson⁵  Frits A Wijburg⁷  Frank Weidemann¹  Bojan Vujkovac^2,26  Camilla Tøndel²  Anna Tylki-Szymanska^1,10  Wim Terryn⁴  Annelies Sweeb^1,18  Einar Svarstad^2,20  Gere Sunder-Plassmann^2,27  Claudia Sommer^1,13  Andreas Serra^2,29  Michael Rudnicki^2,21  Uma Ramaswami³  Rossella Parini^1,11  João P Oliveira^1,19  Erica van de Mheen^1,18  Atul Mehta⁶  Gabor E Linthorst^1,17  Christine Lavery^2,24  Nesrin Karabul^2,28  Ilkka Kantola^1,12  Derralynn A Hughes⁶  Chris Hendriksz^1,14  Dominique P Germain⁸  Tarekegn Geberhiwot^1,16  Ulla Feldt-Rasmussen^2,22  Patrick B Deegan⁹  Franco Cecchi^1,15  Lut Boks^2,24  Frederic Barbey^2,25  Reynir Arngrímsson^2,23  Marieke Biegstraaten^1,17 

[1] Innere Klinik II, Katharinen Hospital Unna, Unna, Germany;Clinical Trial Unit/Department of Paediatrics, Haukeland University Hospital, Bergen, Norway;Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK;Department of Internal Medicine, Division of Nephrology, Ghent University Hospital, Ghent, Belgium;Department of Cardiology, Salford Royal Hospital NHS Foundation Trust, Manchester, UK;Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK;Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands;Division of Medical Genetics, University of Versailles, Montigny, France;Department of Medicine, Addenbrooke’s Hospital and University of Cambridge, Cambridge, UK;Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland;Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo University Hospital, Monza, Italy;Division of Medicine, Turku University Hospital, Turku, Finland;Department of Neurology, University of Würzburg, Würzburg, Germany;Department of Adult Inherited Metabolic Disorders, Manchester Academic Health Science Centre, Manchester, UK;Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy;Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK;Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, Amsterdam 1100 DD, The Netherlands;Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands;Department of Genetics, University of Porto & São João Hospital Centre, Porto, Portugal;Department of Medicine, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Bergen, Norway;Department of Internal Medicine IV, Division Nephrology and Hypertension, Medical University Innsbruck, Innsbruck, Austria;Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark;Biomedical Center, University of Iceland and Landspitali University Hospital, Reykjavík, Iceland;Fabry International Network (FIN), Amersham, UK;Center of Molecular Diseases, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland;General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia;Department of Medicine III, Division Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria;Villa Metabolica, Centre for Paediatric and Adolescent Medicine, Mainz, Germany;Epidemiology, Biostatistics and Prevention Institute, University of Zurich, Zurich, Switzerland

关键词: Delphi procedure;    Recommendations;    Enzyme replacement therapy;    Fabry disease;   

Others  :  1150880
DOI  :  10.1186/s13023-015-0253-6

 received in 2015-01-15, accepted in 2015-03-15,  发布年份 2015

【 摘 要 】

Introduction

Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD.

Methods

A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with ≥75% agreement and no disagreement.

Results

For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of ≥16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m²) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped.

Conclusion

The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.

【 授权许可】

   
2015 Biegstraaten et al.; licensee BioMed Central.

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