DOI: 10.1002/jgf2.70183 ISSN: 2189-7948
Late Recognition of Suspected Ehlers‐Danlos Syndrome After Recurrent Small‐Bowel Perforations: A Case Report
Norio Horiguchi, Etsuko Hisanaga, Hiroko Sato, Kuniko Yoshida, Akihito Kimura, Ayumi Ito, Miki Horita, Aya Suzuki, Keiko Kawai‐KowaseABSTRACT
Background
Ehlers‐Danlos syndrome (EDS) may be overlooked when gastrointestinal and musculoskeletal findings are assessed separately.
Case Presentation
An older woman with two previous small‐bowel perforations had bilateral congenital hip dislocation, recurrent shoulder dislocations, skin hyperextensibility, and muscularis propria thinning in nonperforated jejunum. Systematic reassessment using the 2017 classification met minimal clinical criteria suggestive of arthrochalasia EDS, while recurrent bowel perforation raised concern for vascular EDS. Genetic testing was declined.
Conclusion
The overall phenotype supported clinically suspected EDS, but molecular confirmation was required for definitive subtype assignment.