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

Détails

Ressource 1Télécharger: BIB_C8A8921BAB45.P001.pdf (428.70 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_C8A8921BAB45
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Périodique
Orphanet Journal of Rare Diseases
Auteur(s)
Biegstraaten M., Arngrímsson R., Barbey F., Boks L., Cecchi F., Deegan P.B., Feldt-Rasmussen U., Geberhiwot T., Germain D.P., Hendriksz C., Hughes D.A., Kantola I., Karabul N., Lavery C., Linthorst G.E., Mehta A., van de Mheen E., Oliveira J.P., Parini R., Ramaswami U., Rudnicki M., Serra A., Sommer C., Sunder-Plassmann G., Svarstad E., Sweeb A., Terryn W., Tylki-Szymanska A., Tøndel C., Vujkovac B., Weidemann F., Wijburg F.A., Woolfson P., Hollak C.E.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
10
Numéro
1
Pages
36
Langue
anglais
Résumé
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.
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/04/2015 18:14
Dernière modification de la notice
15/01/2020 7:26
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