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dc.contributor.authorBiegstraaten, Mariekeen_US
dc.contributor.authorArngrímsson, Ren_US
dc.contributor.authorBarbey, Fen_US
dc.contributor.authorBoks, Len_US
dc.contributor.authorCecchi, Francoen_US
dc.contributor.authorDeegan, PBen_US
dc.contributor.authorFeldt-Rasmussen, Ullaen_US
dc.contributor.authorGeberhiwot, Ten_US
dc.contributor.authorGermain, DPen_US
dc.contributor.authorHendriksz, Cen_US
dc.contributor.authorHughes, DAen_US
dc.contributor.authorKantola, Ien_US
dc.contributor.authorKarabul, Nen_US
dc.contributor.authorLavery, Cen_US
dc.contributor.authorLinthorst, GEen_US
dc.contributor.authorMehta, Aen_US
dc.contributor.authorvan de Mheen, Een_US
dc.contributor.authorOliveira, JPen_US
dc.contributor.authorParini, Ren_US
dc.contributor.authorRamaswami, Umaen_US
dc.contributor.authorRudnicki, Men_US
dc.contributor.authorSerra, Aen_US
dc.contributor.authorSommer, Claudiaen_US
dc.contributor.authorSunder-Plassmann, Gen_US
dc.contributor.authorSvarstad, Einaren_US
dc.contributor.authorSweeb, Aen_US
dc.contributor.authorTerryn, Wen_US
dc.contributor.authorTylki-Szymanska, Aen_US
dc.contributor.authorTøndel, Camillaen_US
dc.contributor.authorVujkovac, Ben_US
dc.contributor.authorWeidemann, Franken_US
dc.contributor.authorWijburg, FAen_US
dc.contributor.authorWoolfson, Pen_US
dc.contributor.authorHollak, CE.en_US
dc.PublishedOrphanet Journal of Rare Diseases 2015, 10(1):36eng
dc.description.abstractIntroduction 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.en_US
dc.publisherBioMed Centraleng
dc.rightsAttribution CC BYeng
dc.subjectFabry diseaseeng
dc.subjectEnzyme replacement therapyeng
dc.titleRecommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documenten_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright Biegstraaten et al.; licensee BioMed Central. 2015
dc.subject.nsiVDP::Medisinske Fag: 700en_US

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