Journal of general and family medicine · 2026
Late Recognition of Suspected Ehlers-Danlos Syndrome After Recurrent Small-Bowel Perforations: A Case Report.
СтатьяНазвание и аннотация: Перевод в очереди
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Horiguchi Norio, Hisanaga Etsuko, Sato Hiroko, Yoshida Kuniko, Kimura Akihito, Ito Ayumi, Horita Miki, Suzuki Aya, Kawai-Kowase Keiko
Аннотация
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.
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.