Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Fabio Caputo, Lisa Lungaro, Adriana Galdi, Eleonora Zoli, Fiorella Giancola, Giacomo Caio, Roberto De Giorgio and Giorgio Zoli
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Fabio Caputo: Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
Lisa Lungaro: Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
Adriana Galdi: Department of Internal Medicine, S.S. Annunziata Hospital, Cento (Ferrara), University of Ferrara, 44042 Ferrara, Italy
Eleonora Zoli: Department of Internal Medicine, S.S. Annunziata Hospital, Cento (Ferrara), University of Ferrara, 44042 Ferrara, Italy
Fiorella Giancola: Department of Veterinary Medical Sciences (UNI EN ISO 9001:2008), Alma Mater Studiorum University of Bologna, 40064 Bologna, Italy
Giacomo Caio: Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
Roberto De Giorgio: Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
Giorgio Zoli: Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy

IJERPH, 2021, vol. 18, issue 6, 1-13

Abstract: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults and more than half of FD children. GI symptoms could be the first manifestation of FD; however, being non-specific, they overlap with the clinical picture of other conditions, such as irritable bowel syndrome and inflammatory bowel disease. This common overlap is the main reason why FD patients are often unrecognized and diagnosis is delayed for many years. The present narrative review is aimed to promote awareness of the GI manifestations of FD amongst general practitioners and specialists and highlight the latest findings of this rare condition including diagnostic tools and therapies. Finally, we will discuss some preliminary data on a patient presenting with GI symptoms who turned to be affected by a variant of uncertain significance of alpha-galactosidase (GLA) gene.

Keywords: fabry disease; gastrointestinal manifestation; ERT; Irritable Bowel Syndrome (IBS) like symptoms (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2021
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