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

ABSTRACT:

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

SUBMITTER: Biegstraaten M 

PROVIDER: S-EPMC4383065 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature