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Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Author

Listed:
  • Fabio Caputo

    (Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
    Department of Internal Medicine, S.S. Annunziata Hospital, Cento (Ferrara), University of Ferrara, 44042 Ferrara, Italy
    Caputo F. and Lungaro L. share first co-authorship.)

  • Lisa Lungaro

    (Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
    Department of Internal Medicine, S.S. Annunziata Hospital, Cento (Ferrara), University of Ferrara, 44042 Ferrara, Italy
    Caputo F. and Lungaro L. share first co-authorship.)

  • 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
    Mucosal Immunology and Biology Research Center, Massachusetts General Hospital-Harvard Medical School, Boston, MA 02114, USA)

  • Roberto De Giorgio

    (Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
    De Giorgio R. and Zoli G. share the last co-authorship.)

  • Giorgio Zoli

    (Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
    Department of Internal Medicine, S.S. Annunziata Hospital, Cento (Ferrara), University of Ferrara, 44042 Ferrara, Italy
    De Giorgio R. and Zoli G. share the last co-authorship.)

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.

Suggested Citation

  • Fabio Caputo & Lisa Lungaro & Adriana Galdi & Eleonora Zoli & Fiorella Giancola & Giacomo Caio & Roberto De Giorgio & Giorgio Zoli, 2021. "Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review," IJERPH, MDPI, vol. 18(6), pages 1-13, March.
    • Handle: RePEc:gam:jijerp:v:18:y:2021:i:6:p:3320-:d:522904
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