Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Mar 23;18(6):3320.
doi: 10.3390/ijerph18063320.

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Fabio Caputo  1   2 , Lisa Lungaro  1   2 , Adriana Galdi  2 , Eleonora Zoli  2 , Fiorella Giancola  3 , Giacomo Caio  1   4 , Roberto De Giorgio  1 , Giorgio Zoli  1   2
Affiliations
Review

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Fabio Caputo et al. Int J Environ Res Public Health. .

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: ERT; Irritable Bowel Syndrome (IBS) like symptoms; fabry disease; gastrointestinal manifestation.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Germain D.P. Fabry Disease. Orphanet. J. Rare Dis. 2010;5:30. doi: 10.1186/1750-1172-5-30. - DOI - PMC - PubMed
    1. Wijburg F.A., Bénichou B., Bichet D.G., Clarke L.A., Dostalova G., Fainboim A., Fellgiebel A., Forcelini C., An Haack K., Hopkin R.J., et al. Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial. PLoS ONE. 2015;10:e0124987. doi: 10.1371/journal.pone.0124987. - DOI - PMC - PubMed
    1. Namdar M., Gebhard C., Studiger R., Shi Y., Mocharla P., Schmied C., Brugada P., Lüscher T.F., Camici G.G. Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease. PLoS ONE. 2012;7:e36373. doi: 10.1371/annotation/7b2c04df-8592-4fb7-8608-3039db28b504. - DOI - PMC - PubMed
    1. Hilz M.J., Arbustini E., Dagna L., Gasbarrini A., Goizet C., Lacombe D., Liguori R., Manna R., Politei J., Spada M., et al. Non-Specific Gastrointestinal Features: Could It Be Fabry Disease? Dig. Liver Dis. Off. J. Ital. Soc. Gastroenterol. Ital. Assoc. Study Liver. 2018;50:429–437. doi: 10.1016/j.dld.2018.02.011. - DOI - PubMed
    1. Eng C.M., Fletcher J., Wilcox W.R., Waldek S., Scott C.R., Sillence D.O., Breunig F., Charrow J., Germain D.P., Nicholls K., et al. Fabry Disease: Baseline Medical Characteristics of a Cohort of 1765 Males and Females in the Fabry Registry. J. Inherit. Metab Dis. 2007;30:184–192. doi: 10.1007/s10545-007-0521-2. - DOI - PubMed

LinkOut - more resources