Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
ERT
Irritable Bowel Syndrome (IBS) like symptoms
fabry disease
gastrointestinal manifestation
Journal
International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455
Informations de publication
Date de publication:
23 03 2021
23 03 2021
Historique:
received:
21
12
2020
revised:
16
03
2021
accepted:
19
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
24
4
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33807115
pii: ijerph18063320
doi: 10.3390/ijerph18063320
pmc: PMC8005161
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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