UvA-DARE (Digital Academic Repository) Enzyme replacement therapy in Fabry disease, towards individualized treatment Arends, M. Link to publication Citation for published version (APA): Arends, M. (2017). Enzyme replacement therapy in Fabry disease, towards individualized treatment General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl) Download date: 17 Feb 2019
Enzyme replacement therapy in Fabry disease, towards individualized treatment Maarten Arends
Enzyme replacement therapy in Fabry disease, towards individualized treatment Maarten Arends
COLOFON Enzyme replacement therapy in Fabry disease, towards individualized treatment Dissertation, University of Amsterdam, the Netherlands Maarten Arends, 2017 All rights reserved. No part of this publication may be reproduced or transmitted by any means, without written permission of the author. Financial support for the printing of this thesis was kindly provided by the Academic Medical Center, Gaucher Stichting, Hartstichting and Nierstichting. ISBN 978-94-028-0702-8 Author Maarten Arends Cover Structural formula of α-galactosidase A Design Liske van der Vliet (persoonlijkproefschrift.nl) Printing Ipskamp Printing (www.proefschriften.net)
Enzyme replacement therapy in Fabry disease, towards individualized treatment ACADEMISCH PROEFSCHRIFT ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van de Rector Magnificus prof. dr. ir. K.I.J. Maex ten overstaan van een door het College voor Promoties ingestelde commissie, in het openbaar te verdedigen in de Agnietenkapel op woensdag 15 november 2017, te 14:00 uur door Maarten Arends geboren te Alkmaar
Promotiecommissie Promotor Prof. dr. C.E.M. Hollak AMC - UVA Copromotor Dr. M. Biegstraaten AMC - UVA Overige leden Prof. dr. Y.M. Smulders Vrije Universiteit Amsterdam Prof. dr. H.R. Waterham Prof. dr. A.A.M. Wilde Prof. dr. A.H. Zwinderman Dr. R.H. Lachmann Dr. G.E. Linthorst AMC - UVA AMC - UVA AMC - UVA University College London AMC - UVA Faculteit der Geneeskunde
Contents 1 General introduction 7 2 Quality of life in patients with Fabry disease: a systematic review of the literature 23 3 Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study 51 4 Characterization of classical and non-classical Fabry disease: a large multicenter cohort study 73 5 Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors 105 6 Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study 133 7 Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in male classical Fabry patients 163 8 Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort 183 9 Summary and general discussion 199 Appendix Nederlandse samenvatting Contributing authors Financial support PhD portofolio Dankwoord 221 225 227 229 233