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Moreno-Martínez et al. Rare Dis Orphan Drugs J 2024;3:9 Rare Disease and
DOI: 10.20517/rdodj.2023.51
Orphan Drugs Journal

Review Open Access

Cerebrovascular disorders and Fabry disease

David Moreno-Martínez 1 , Luciana León-Cejas 2 , Ricardo Reisin 2
1
Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London NW3
2QG, UK.
2
Neurology Department, Hospital Británico, Buenos Aires C1280 AEB, Argentina.
Correspondence to: Prof. Ricardo Reisin, Neurology Department, Hospital Británico, Perdriel 74, Buenos Aires C1280AEB,
Argentina. E-mail: rcreisin@intramed.net

How to cite this article: Moreno-Martínez D, León-Cejas L, Reisin R. Cerebrovascular disorders and Fabry disease. Rare Dis
Orphan Drugs J 2024;3:9. https://dx.doi.org/10.20517/rdodj.2023.51
Received: 15 Nov 2023 First Decision: 9 Jan 2024 Revised: 9 Mar 2024 Accepted: 15 Mar 2024 Published: 25 Mar 2024

Academic Editor: Daniel Scherman Copy Editor: Dong-Li Li Production Editor: Dong-Li Li

Abstract
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene
encoding for alpha-galactosidase A. Renal, cardiac, and cerebrovascular involvement are the leading complications
in early adulthood and are associated with severe morbidity and mortality. Cerebrovascular manifestations in FD
manifest as ischemic stroke and transient ischemic attack and less frequently as hemorrhagic strokes. Many
patients may develop their stroke not only before other major complications but also before the diagnosis of FD is
made. This review will describe the frequency and characteristics of cerebrovascular disease in FD, the complex
pathophysiological mechanisms, the neuroimaging findings, the value of screening studies in young patients with
stroke, and the controversies regarding the beneficial effect of ERT for the prevention of cerebrovascular disease in
FD.

Keywords: Fabry disease, cerebrovascular disorders, ischemic stroke, hemorrhagic stroke, transient ischemic
attack

INTRODUCTION
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene
encoding for alpha-galactosidase A (α-GAL A). FD is characterized by progressive and multisystemic
lysosomal accumulation of glycosphingolipids involving peripheral nerves, gastrointestinal tract, skin, heart,

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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