Recurrent adnexal torsion in a teenager with hypermobile Ehlers-Danlos syndrome: A case report

Abstract

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, characterized by joint hypermobility, frequent dislocations, and chronic pain. Genetic markers are not typically used in diagnosis.A 17-year-old clinically diagnosed with hEDS presented with recurrent lower abdominal pain, later attributed to intermittent partial adnexal torsion. Whole-genome sequencing revealed a missense mutation c.1691G > A (p.Arg564His) in the COL1A1 gene. She had undergone two exploratory laparotomies at ages 8 and 10 due to acute pain, resulting in a left adnexectomy and right detorsion with hydrosalpinx drainage. It was suspected that the recurrent adnexal torsion was linked to hEDS-related tissue elasticity, and so a laparoscopic right oophoropexy by shortening the utero-ovarian ligament was performed. At one-year follow-up, she was asymptomatic.This case highlights the potential connection between hEDS and adnexal torsion, which may contribute to chronic abdominal pain, often misattributed to other conditions, such as irritable bowel syndrome.

Keywords

• Hypermobile Ehlers-Danlos syndrome
• hEDS
• Adnexal torsion
• Adolescent
• Case report