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

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Authors
Biegstraaten, Marieke
Arngrímsson, Reynir
Barbey, Frederic
Boks, Lut
Cecchi, Franco
Deegan, Patrick B
Feldt-Rasmussen, Ulla
Geberhiwot, Tarekegn
Germain, Dominique P
Hendriksz, Chris
Hughes, Derralynn A
Kantola, Ilkka
Karabul, Nesrin
Lavery, Christine
Linthorst, Gabor E
Mehta, Atul
van de Mheen, Erica
Oliveira, João P
Parini, Rossella
Ramaswami, Uma
Rudnicki, Michael
Serra, Andreas
Sommer, Claudia
Sunder-Plassmann, Gere
Svarstad, Einar
Sweeb, Annelies
Terryn, Wim
Tylki-Szymanska, Anna
Tøndel, Camilla
Vujkovac, Bojan
Weidemann, Frank
Wijburg, Frits A
Woolfson, Peter
Hollak, Carla E M
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Issue Date
2015

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Citation
Orphanet J Rare Dis. 2015, 10:36
Abstract
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.
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.
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.
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.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
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http://dx.doi.org/ 10.1186/s13023-015-0253-6
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383065/
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Archived with thanks to Orphanet journal of rare diseases
ae974a485f413a2113503eed53cd6c53
10.1186/s13023-015-0253-6
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