Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease | Orphanet Journal of Rare Diseases | Full Text

Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Wladimir MauhinEmail authorView ORCID ID profile,
• Olivier Lidove and
• Olivier Benveniste

Orphanet Journal of Rare Diseases201914:4

https://doi.org/10.1186/s13023-018-0979-z

©  The Author(s). 2019

• Received: 6 December 2018
• Accepted: 12 December 2018
• Published: 7 January 2019

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.

Keywords

• Fabry disease
• Antibodies
• Inhibition
• Phenotype