Yoneda Akira, Okada Kazuya, Okubo Hitoshi, Matsuo Mitsutoshi, Kishikawa Hiroki, Naing Banyar Than, Watanabe Atsushi, Shimada Takashi
Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Case Rep Gastroenterol. 2014 May 15;8(2):175-81. doi: 10.1159/000363373. eCollection 2014 May.
Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp).
血管型埃勒斯-当洛综合征（vEDS）（MIM #130050）是一种常染色体显性疾病，由III型胶原蛋白基因COL3A1突变引起，导致血管、肠道和子宫脆弱，进而引发自发性破裂。我们报告了一例先前未被诊断出的患有肠道并发症的vEDS患者。一名20岁女性患者因腹痛被转诊至我院。计算机断层扫描显示乙状结肠显著扩张并伴有腹腔内积液。剖腹手术显示乙状结肠扩张，乙状结肠浆膜和固有肌层破裂且即将穿孔，肠系膜破裂导致腹腔内出血。实施了乙状结肠切除并带哈特曼袋及末端结肠造口术。体格检查显示关节活动过度、皮肤半透明且静脉突出以及面部结构异常。通过逆转录聚合酶链反应直接测序，使用从患者成纤维细胞中提取的cDNA进行基因分析，结果显示COL3A1三螺旋区域内存在一个错义突变（c.2150 G>A；Gly717Asp）。
