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Politei et al. Rare Dis Orphan Drugs J 2024;3:10 Rare Disease and
DOI: 10.20517/rdodj.2023.46
Orphan Drugs Journal

Review Open Access

Gastrointestinal involvement in Fabry disease

1
Juan Manuel Politei , Benjamin Solar 2
1
Neurology Department, Spine Fundation, Buenos Aires C1425EKV, Argentina.
2
Child Neurology Service, Hospital Puerto Montt, Puerto Montt 5480000, Chile.
Correspondence to: Dr. Juan Manuel Politei, Neurology Department, Spine Fundation, Laprida 2080, Buenos Aires C1425EKV,
Argentina. E-mail: politeij@gmail.com

How to cite this article: Politei JM, Solar B. Gastrointestinal involvement in Fabry disease. Rare Dis Orphan Drugs J 2024;3:10.
https://dx.doi.org/10.20517/rdodj.2023.46

Received: 26 Oct 2023 First Decision: 12 Jan 2024 Revised: 4 Feb 2024 Accepted: 21 Mar 2024 Published: 29 Mar 2024

Academic Editor: Guillem Pintos-Morell Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Abstract
Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency. This deficiency
results in a progressive accumulation of globotriaosylceramide and related glycosphingolipids, particularly in
vascular endothelial cells, renal cells, nerve cells, and cardiomyocytes. Gastrointestinal symptoms are frequent and
can be extremely debilitating. It is known that most of the well-characterized gastrointestinal manifestations of
Fabry disease are the result of the accumulation of glycosphingolipids, which causes vascular occlusion and
malfunction of the peripheral and autonomic nervous system. Although improvement is noted in treating patients
with enzyme replacement therapy and migalastat, some continue to experience symptoms after treatment; thus, it
remains a significant cause of morbidity, necessitating concurrent adjuvant treatment. Current research is focused
on clarifying the underlying dysmotility and further analyzing the correlation between the gut-brain axis, the
histologic disease progression, and the clinical symptom presentation.

Keywords: Fabry disease, Fabry gastrointestinal involvement, abdominal pain

INTRODUCTION
Fabry disease (FD) is an X-linked lysosomal storage disorder due to the deficiency of alpha-galactosidase A
(α-GalA). As a result of this deficiency, a progressive accumulation of globotriaosylceramide (GL-3) and
related glycosphingolipids, particularly in vascular endothelial cells, renal cells, nerve cells, and
cardiomyocytes, is present . Fabry disease patients who have very low α-GalA activity exhibit the classic
[1]

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