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

IF 0.7 Q4 OBSTETRICS & GYNECOLOGY Case Reports in Women's Health Pub Date : 2024-11-06 DOI:10.1016/j.crwh.2024.e00661

Michail Panagiotopoulos, Maria Tsiriva, Lito Vogiatzi-Vokotopoulou, Konstantinos Koukoumpanis, Nikolaos Kathopoulis, Athanasios Douligeris, Athanasios Protopapas, Lina Michala

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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.

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一名患有艾勒斯-丹洛斯综合征（Ehlers-Danlos syndrome）活动过度症的青少年复发性附件扭转：病例报告

活动过度埃勒斯-丹洛斯综合征（hEDS）是 EDS 中最常见的类型，以关节活动过度、频繁脱位和慢性疼痛为特征。一名临床诊断为hEDS的17岁患者出现反复下腹痛，后被归因于间歇性部分附件扭转。全基因组测序发现，COL1A1 基因中存在一个错义突变 c.1691G > A (p.Arg564His)。她在8岁和10岁时曾因急性疼痛接受过两次探查性开腹手术，结果是进行了左侧附件切除术和右侧附件切除术，并进行了肾积水引流。医生怀疑复发性附件扭转与 hEDS 相关的组织弹性有关，因此在腹腔镜下通过缩短子宫卵巢韧带进行了右侧输卵管切除术。本病例强调了 hEDS 与附件扭转之间的潜在联系，附件扭转可能导致慢性腹痛，而慢性腹痛往往被误认为是肠易激综合征等其他疾病引起的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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