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Gastroenterology Research and Practice
Volume 2016, Article ID 9712831, 7 pages
Research Article

Gastrointestinal Symptoms of Patients with Fabry Disease

1Department of Pediatrics, “Magna Graecia” University, Viale Pio X, 88100 Catanzaro, Italy
2Translational Medical Sciences, Section of Pediatrics, “Federico II” University, Naples, Italy

Received 16 June 2015; Revised 10 September 2015; Accepted 13 September 2015

Academic Editor: Paul Enck

Copyright © 2016 Licia Pensabene et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4–70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults and 2/8 of these children, the symptoms mimicked FGID. The adult subgroup included patients with unspecified functional bowel disorder (), functional bloating (), and IBS (), and the child subgroup included patients with abdominal migraine () and IBS (). Among the 25 adults, 14 reported feeling full after a regular-size meal, and 12 complained of abdominal bloating/distension. All of the children with GI symptoms complained of low abdominal pain associated with changes in the form of the stool/improvements with defecation. In conclusion, according to Rome III criteria, the most frequent diagnoses of FGID among the adults with FD were unspecified functional bowel disorder, followed by functional bloating and IBS. The most frequent GI symptom in the children in our population was IBS-like abdominal pain, while the adults exhibited a full feeling following a regular-size meal and abdominal bloating/distension.