Abeysekera Kushala W M, Pearl Daniel S, Burn Paul, Lowe Andrew
Gastroenterology Department, Musgrove Park Hospital, Parkfield Drive, Taunton, Somerset, TA1 5DA, UK.
Gastrointestinal Radiology Department, Musgrove Park Hospital, Taunton, UK.
BMC Gastroenterol. 2019 Nov 27;19(1):198. doi: 10.1186/s12876-019-1118-6.
This case seeks to highlight to endoscopists a rare benign disorder that may be encountered during endoscopy. Clinicians may be tempted to biopsy, which could lead to a catastrophic gastrointestinal haemorrhage.
A 66-year-old asymptomatic Caucasian male was referred for colonoscopy with a positive faecal occult blood test as part of the UK national bowel cancer screening programme. Relevant past medical history included atrial fibrillation for which he took Dabigatran. He had a normal haemoglobin, mean cell volume, platelet and clotting function. During colonoscopy, an unusual vascular pattern encompassing the entire rectum extending to the rectosigmoid junction was noted at intubation. The lesion demonstrated confluent circumferential purple discolouration indicating venous blood supply, with heaping up of the mucosa involving the entire rectum and rectosigmoid junction. There was no corresponding history of venothromboembolic disease or liver disease. The patient proceeded to have computed tomography (CT) which revealed a considerably thickened rectosigmoid wall with multiple small rounded punctate calcifications within it, and no other visceral involvement. Subsequent magnetic resonance (MR) scan of the pelvis demonstrated extensive diffuse thickening of the rectum and lower sigmoid with intermediate to high T2 signal, and an internal architecture of multiple 'grapelike' lobulations.
The findings were consistent with diffuse cavernous haemangiomatosis of the rectum (DCHR), an extremely rare benign submucosal vascular intestinal tumour originating from the dentate line. Misdiagnosis of DCHR is common and the macroscopic appearance of DCHR can mimic varices, haemorrhoids, polyps or proctitis. MR imaging is the gold standard for diagnosis. Common presentation is with haematochezia due to mucosal wall erosion. The treatment of choice for symptomatic DCHR is pull-through transection and colo-anal anastomosis. This case seeks to highlight a rare disorder that can be encountered incidentally during lower GI endoscopy. Injudicious biopsy is potentially catastrophic. In a patient who endoscopically has evidence of a DCHR, we advocate MR pelvis assessment to clarify the nature of the lesion to guide future management if required. The patient discussed remains well, asymptomatic, with no evidence of iron deficiency anaemia.
本病例旨在向内镜医师强调一种在内镜检查过程中可能遇到的罕见良性疾病。临床医生可能会倾向于进行活检，而这可能导致灾难性的胃肠道出血。
一名66岁无症状的白种男性因粪便潜血试验阳性被转诊进行结肠镜检查，这是英国国家肠癌筛查计划的一部分。相关既往病史包括心房颤动，他正在服用达比加群。他的血红蛋白、平均红细胞体积、血小板和凝血功能均正常。在结肠镜检查时，插管时发现一种不寻常的血管形态，覆盖整个直肠并延伸至直肠乙状结肠交界处。病变表现为融合的环形紫色变色，提示静脉血供，黏膜隆起累及整个直肠和直肠乙状结肠交界处。患者没有静脉血栓栓塞性疾病或肝病的相应病史。患者随后进行了计算机断层扫描（CT），结果显示直肠乙状结肠壁明显增厚，内有多个小圆形点状钙化，无其他内脏受累。随后的骨盆磁共振（MR）扫描显示直肠和乙状结肠下段广泛弥漫性增厚，T2信号为中到高信号，内部结构为多个“葡萄样”小叶。
这些发现符合直肠弥漫性海绵状血管瘤病（DCHR），这是一种极其罕见的起源于齿状线的良性黏膜下血管性肠道肿瘤。DCHR的误诊很常见，其宏观表现可模仿静脉曲张、痔疮、息肉或直肠炎。MR成像为诊断的金标准。常见表现为因黏膜壁糜烂导致的便血。有症状的DCHR的首选治疗方法是拖出式横断和结肠肛管吻合术。本病例旨在强调一种在下消化道内镜检查中可能偶然遇到的罕见疾病。不明智的活检可能是灾难性的。对于内镜检查有DCHR证据的患者，我们主张进行骨盆MR评估以明确病变性质，必要时指导未来的治疗。所讨论的患者情况良好，无症状，无缺铁性贫血的证据。
