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Hughes et al. Rare Dis Orphan Drugs J 2024;3:29 Rare Disease and
DOI: 10.20517/rdodj.2024.30
Orphan Drugs Journal

Editorial Open Access

Special issue on Fabry disease - book 1: editorial

1
Derralynn Hughes , Guillem Pintos-Morell 2
1
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London NW3 2Q, UK.
2
Vall d’Hebron Institute of Research, Vall d’Hebron Barcelona Hospital Campus, Barcelona 08035, Spain.
Correspondence to: Dr. Derralynn Hughes, Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust,
University College London, London NW3 2Q, UK. E-mail: derralynnhughes@nhs.net; Dr. Guillem Pintos-Morell, Vall d'hebron
Research Institute, Passeig Vall d'Hebron 119-129, Barcelona 08035, Spain. E-mail: guillem.pintos@vhir.org
How to cite this article: Hughes D, Pintos-Morell G. Special issue on Fabry disease - book 1: editorial. Rare Dis Orphan Drugs J
2024;3:29. https://dx.doi.org/10.20517/rdodj.2024.30

Received: 23 Sep 2024 Accepted: 12 Oct 2024 Published: 18 Oct 2024
Academic Editor: Daniel Scherman Copy Editor: Fangling Lan Production Editor: Fangling Lan

Fabry disease (FD) is far from a simple lysosomal storage disorder (LSD), if indeed any one of this group of
70 disorders could be considered simple. FD, an X-linked LSD, has long been recognized for its complex
pathophysiology and varied clinical manifestations. Our understanding of its pathophysiological
[2]
[1]
mechanisms has significantly advanced since the first descriptions by Anderson and Fabry in 1898, the
discovery of the lysosome by Christian de Duve in 1955 , the elucidation of the enzyme defect by
[3]
[4]
Roscoe O. Brady in 1967 , and the subsequent recommendations for diagnosis and treatment by
Desnick et al. in 2003 . Recent insights have shifted our understanding of the disease from merely focusing
[5]
on substrate storage to recognizing it as a highly complex and enigmatic disorder with unclear pathology
and diverse presentations. FD progresses slowly and exhibits diverse symptomatology at any given time,
which can differ based on the type of GLA gene mutation, sex, and age at presentation. In this Special Issue
dedicated to Fabry disease, we highlight the substantial progress made in understanding its
pathophysiology, presenting six articles that provide a comprehensive overview of new dimensions within
this multifaceted condition. From novel pathomechanisms to critical clinical insights, this compilation
emphasizes the urgent need for ongoing research and clinical attention to FD.

The article titled “Investigating Fabry disease - some lessons learned”, authored by Prof. R. Schiffmann,
discusses uncertainties related to FD expression, disease progression, and treatment response . The next
[6]
[7]
article by Feriozzi and Rozenfeld delves into an emerging understanding of the pathophysiology

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
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