Department of Gastroenterology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
Toranomon Hospital Health Management Center, 1-8-1 Akasaka, Minato-ku, Tokyo, 107-0052, Japan.
Clin J Gastroenterol. 2022 Oct;15(5):901-906. doi: 10.1007/s12328-022-01670-0. Epub 2022 Jul 21.
Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by venous malformations in the skin and gastrointestinal tract, especially in the small intestine. Patients with BRBNS have increased risks of gastrointestinal hemorrhage and anemia. This is the first report in the English literature on BRBNS with hemangiomas in the small intestine that were treated successfully by endoscopic clipping using double-balloon endoscopy. A 25-year-old Japanese man presented to a local clinic with dyspnea, fatigue, and a hemoglobin level < 5 g/dL. The diagnosis was iron deficiency anemia. Since childhood, he had had a hemangioma in the shoulder joint and hemangiomas in the skin on the left arm. However, neither upper nor lower gastrointestinal endoscopy showed any lesions and he was referred to us for further evaluation and treatment of the anemia. Small bowel capsule endoscopy (SBCE) revealed hemangiomas in the small intestine, one of which was bleeding. Transanal DBE revealed a 10-mm bluish-purple hemangioma with erosion on the surface, which became smaller after application of five clips. Follow-up SBCE on day 50 showed that the hemangioma had completely disappeared. Clipping may be a safe and effective treatment for small bowel hemangioma in BRBNS.
蓝色橡皮疱痣综合征（BRBNS）是一种罕见的综合征，其特征为皮肤和胃肠道，尤其是小肠中的静脉畸形。BRBNS 患者发生胃肠道出血和贫血的风险增加。这是首例应用双气囊小肠镜内镜夹闭术成功治疗 BRBNS 合并小肠血管瘤的英文文献报道。一名 25 岁的日本男性因呼吸困难、乏力和血红蛋白<5 g/dL 就诊于当地诊所。诊断为缺铁性贫血。他自幼患有肩关节血管瘤和左手臂皮肤血管瘤。然而，上、下消化道内镜均未发现任何病变，遂转至我院进一步评估和治疗贫血。小肠胶囊内镜（SBCE）显示小肠血管瘤，其中一个正在出血。经肛门逆行性小肠镜（DBE）显示表面有侵蚀的 10-mm 蓝紫色血管瘤，应用 5 个夹子后其体积缩小。第 50 天复查 SBCE 示血管瘤完全消失。夹闭术可能是 BRBNS 合并小肠血管瘤的一种安全有效的治疗方法。
