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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Fabry Disease | Letter to the Editor

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

Authors: Wladimir Mauhin, Olivier Lidove, Olivier Benveniste

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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Abstract

Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline the different clinical and technical considerations the readers have to be aware of to interpret the results of studies dealing with Fabry disease and anti-agalsidase antibodies. We reaffirm that antibodies preferentially develop in the severe classic Fabry phenotype, which can mislead into interpreting that antibodies are associated with much severe clinical events.
Literature
1.
Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, et al. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY. Orphanet J Rare Dis 31 juill. 2018;13(1):127.CrossRef
2.
Lenders M, Schmitz B, Brand S-M, Brand E. Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact? Orphanet J Rare Dis. 2018;13(1):171.CrossRef
3.
Lenders M, Schmitz B, Brand S-M, Foell D, Brand E. Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion. J Allergy Clin Immunol. 2018;141(6):2289–2292.e7.CrossRef
Metadata
Title
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease
Authors
Wladimir Mauhin
Olivier Lidove
Olivier Benveniste
Publication date
01-12-2019
Publisher
BioMed Central
Keyword
Fabry Disease
Published in
Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-018-0979-z

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