Journal article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Biegstraaten M Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. m.biegstraaten@amc.uva.nl.
- Arngrímsson R Biomedical Center, University of Iceland and Landspitali University Hospital, Reykjavík, Iceland. reynirar@landspitali.is.
- Barbey F Center of Molecular Diseases, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. frederic.barbey@chuv.ch.
- Boks L Fabry International Network (FIN), Amersham, UK. lut@boks.be.
- Cecchi F Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy. francocecchi337@gmail.com.
- Deegan PB Department of Medicine, Addenbrooke's Hospital and University of Cambridge, Cambridge, UK. patrick.deegan@addenbrookes.nhs.uk.
- Feldt-Rasmussen U Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark. Ulla.Feldt-Rasmussen@regionh.dk.
- Geberhiwot T Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. Tarekegn.Geberhiwot@uhb.nhs.uk.
- Germain DP Division of Medical Genetics, University of Versailles, Montigny, France. dominique.germain@rpc.aphp.fr.
- Hendriksz C Department of Adult Inherited Metabolic Disorders, Manchester Academic Health Science Centre, Manchester, UK. Chris.Hendriksz@srft.nhs.uk.
- Hughes DA Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. rmgvdah@ucl.ac.uk.
- Kantola I Division of Medicine, Turku University Hospital, Turku, Finland. Ilkka.Kantola@tyks.fi.
- Karabul N Villa Metabolica, Centre for Paediatric and Adolescent Medicine, Mainz, Germany. Nesrin.Karabul@unimedizin-mainz.de.
- Lavery C Fabry International Network (FIN), Amersham, UK. C.Lavery@mpssociety.org.uk.
- Linthorst GE Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. g.e.linthorst@amc.uva.nl.
- Mehta A Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. atul.mehta1@nhs.net.
- van de Mheen E Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. erica@fabry.nl.
- Oliveira JP Department of Genetics, University of Porto & São João Hospital Centre, Porto, Portugal. jpo@med.up.pt.
- Parini R Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo University Hospital, Monza, Italy. rossella.parini@unimib.it.
- Ramaswami U Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK. uma.ramaswami@nhs.net.
- Rudnicki M Department of Internal Medicine IV, Division Nephrology and Hypertension, Medical University Innsbruck, Innsbruck, Austria. michael.rudnicki@i-med.ac.at.
- Serra A Epidemiology, Biostatistics and Prevention Institute, University of Zurich, Zurich, Switzerland. a.serra@gmx.ch.
- Sommer C Department of Neurology, University of Würzburg, Würzburg, Germany. sommer@uni-wuerzburg.de.
- Sunder-Plassmann G Department of Medicine III, Division Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria. Gere.Sunder-Plassmann@meduniwien.ac.at.
- Svarstad E Department of Medicine, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Bergen, Norway. Einar.Svarstad@k1.uib.no.
- Sweeb A Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. asweeb@xs4all.nl.
- Terryn W Department of Internal Medicine, Division of Nephrology, Ghent University Hospital, Ghent, Belgium. wim.terryn@gmail.com.
- Tylki-Szymanska A Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. atylki@op.pl.
- Tøndel C Clinical Trial Unit/Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Camilla.Tondel@k1.uib.no.
- Vujkovac B General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia. bojan.vujkovac@guest.arnes.si.
- Weidemann F Innere Klinik II, Katharinen Hospital Unna, Unna, Germany. f.weidemann@katharinen-hospital.de.
- Wijburg FA Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. f.a.wijburg@amc.uva.nl.
- Woolfson P Department of Cardiology, Salford Royal Hospital NHS Foundation Trust, Manchester, UK. Peter.Woolfson@srft.nhs.uk.
- Hollak CE Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. c.e.hollak@amc.uva.nl.
- 2015-04-18
Published in:
- Orphanet journal of rare diseases. - 2015
Adolescent
Disease Progression
Enzyme Replacement Therapy
Fabry Disease
Female
Humans
Isoenzymes
Male
Practice Guidelines as Topic
alpha-Galactosidase
English
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 m(2)) 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.
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 m(2)) 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.
- Language
-
- English
- Open access status
- gold
- Identifiers
-
- DOI 10.1186/s13023-015-0253-6
- PMID 25885911
- Persistent URL
- https://folia.unifr.ch/global/documents/161324
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