Rana Mariam, Aziz Omer, Purkayastha Sanjay, Lloyd Josephine, Wolfe John, Ziprin Paul
Division of Surgery, Department of Surgery and Cancer, Imperial College London, St Mary's Hospital, South Wharf Road, London W2 1NY, UK.
J Med Case Rep. 2011 Jun 23;5:229. doi: 10.1186/1752-1947-5-229.
Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder (Ehlers-Danlos syndrome type IV) while undergoing surveillance for hereditary non-polyposis colorectal cancer.
A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann's procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, α1 (COL3A1) gene, which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV.
Ehlers-Danlos syndrome type IV, the vascular type, is a rare disorder caused by mutations in the COL3A1 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the literature. The present case presentation describes the identification of Ehlers-Danlos syndrome type IV in a patient with a non-spontaneous colonic perforation secondary to an invasive investigation for another hereditary disorder pre-disposing him to colorectal cancer. Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV. Alternatives with a lower risk of perforation, such as computed tomographic colonography, need to be considered for patients requiring ongoing colorectal cancer surveillance. Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability. Genetic and reproductive counseling should be offered to affected individuals and their families.
结肠镜穿孔是结肠镜检查中一种罕见但严重的并发症。已知会增加穿孔风险的因素包括结肠狭窄、广泛憩室病和组织脆弱。我们描述了一例男性患者，他在接受遗传性非息肉病性结直肠癌监测时，被发现因未确诊的结缔组织病（IV型埃勒斯-当洛综合征）导致乙状结肠穿孔。
一名33岁的白人男性，在五天前作为遗传性非息肉病性结直肠癌筛查的一部分接受结肠镜检查后，因急腹症入住我院。他的病史包括双侧马蹄内翻足。体格检查结果提示左下腹腹膜炎。计算机断层扫描显示乙状结肠穿孔，同时还意外发现右侧髂总动脉瘤。剖腹手术期间进行了哈特曼手术。患者术后恢复良好并出院。六个月后进行了哈特曼手术的回纳。由于粘连严重和肠管脆弱，该手术具有挑战性。此次手术的肠标本组织学检查显示肌层变薄和纤维化。随后发现该患者躯干皮肤透明，血管清晰可见。怀疑存在潜在的胶原血管疾病，基因检测显示III型胶原α1（COL3A1）基因发生突变，这与IV型埃勒斯-当洛综合征的诊断一致。
IV型埃勒斯-当洛综合征，即血管型，是一种由2号染色体q31上的COL3A1基因突变引起的罕见疾病。其特征为皮肤半透明、马蹄内翻足，以及潜在致命的自发性大血管破裂并发症，尽管文献中也报道过自发性子宫和结肠穿孔。本病例介绍描述了在一名因另一种遗传性疾病易患结直肠癌而接受侵入性检查继发非自发性结肠穿孔的患者中确诊IV型埃勒斯-当洛综合征。对于IV型埃勒斯-当洛综合征患者，动脉造影和内镜检查等侵入性操作相对禁忌。对于需要持续进行结直肠癌监测的患者，需要考虑采用穿孔风险较低的替代方法，如计算机断层结肠成像。此外，由于组织脆弱，IV型埃勒斯-当洛综合征患者血管动脉瘤的管理需要考虑血管内支架置入与开放手术干预的风险。应向受影响的个体及其家庭提供遗传和生育咨询。
