Digestive and Endocrine Surgery Clinic, Institute of Digestive Diseases, University Hospital of Nantes, CHU Hôtel Dieu, 1, Place Alexis Ricordeau, 44035, Nantes, France.
HEGP Paris, National Referral Centre for Rare Diseases "Ehlers-Danlos Syndrome", Paris, France.
Tech Coloproctol. 2018 May;22(5):333-341. doi: 10.1007/s10151-018-1783-4. Epub 2018 Apr 26.
Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails. References of the selected articles were screened to avoid missing main articles. Twenty-seven published case reports and four retrospective studies, including 31 and 527 cases, respectively, matched the search criteria. A case from our institution was added. Mean age was 26 years (range 6-64 years). The most frequent site of perforation was the colon, particularly the sigmoid, followed by small bowel, upper rectum, and finally stomach. The majority of cases were initially managed with Hartmann's procedure. In recurrent perforations, total colectomy was performed. The reperforation rate was considerably higher in the "partial colectomy with anastomosis" group than in the Hartmann group. Colonic perforation is the most common spontaneous GI perforation in EDS IV patients. An unexpected fragility of the tissues should raise the possibility of a connective tissue disorder and prompt further investigation with eventual management of these high-risk patients with a multidisciplinary team approach in dedicated centres. In the emergency setting, a Hartmann procedure should be performed.
自发性胃肠道（GI）穿孔是一种已知的并发症，发生在患有 IV 型血管型埃勒斯-当洛斯综合征（EDS IV）的患者中。本研究的目的是回顾 EDS IV 患者自发性 GI 穿孔的现有文献，并尽可能说明手术治疗和结果。使用 PUBMED、EMBASE 和 Cochrane 对照试验中心注册库这三个主要数据库，对 2000 年 1 月至 2015 年 12 月期间发表的所有关于 EDS IV 患者自发性 GI 穿孔的已发表数据进行了系统回顾。对选定文章的参考文献进行了筛选，以避免遗漏主要文章。共有 27 篇已发表的病例报告和 4 篇回顾性研究符合搜索标准，分别包括 31 例和 527 例患者。另外还增加了我们机构的一个病例。平均年龄为 26 岁（范围 6-64 岁）。穿孔最常见的部位是结肠，特别是乙状结肠，其次是小肠、直肠上段，最后是胃。大多数病例最初采用 Hartmann 手术治疗。在反复穿孔的情况下，进行全结肠切除术。在“部分结肠切除术加吻合术”组中，再穿孔率明显高于 Hartmann 组。在 EDS IV 患者中，结肠穿孔是最常见的自发性 GI 穿孔。组织的意外脆弱性应提示结缔组织疾病的可能性，并应通过多学科团队方法在专门中心对这些高风险患者进行进一步调查和最终管理。在紧急情况下，应进行 Hartmann 手术。
