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罕见的上消化道出血病例:Osler-Weber-Rendu 综合征。

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome.

机构信息

Banacha Campus, Medical University of Warsaw, Zwirki i Wigury 61 St., 02-091 Warsaw, Poland.

Department of Gastroenterology with Endoscopy Unit, Medical University of Lublin, Jaczewskiego 8 St., 20-954 Lublin, Poland.

出版信息

Medicina (Kaunas). 2022 Feb 22;58(3):333. doi: 10.3390/medicina58030333.

Abstract

Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare, autosomal dominant condition that affects approximately 1 in 5000 patients causing abnormal blood vessel formation. HHT patients have mucocutaneous telangiectasias and arteriovenous malformations in various organs. The most prominent symptom of HHT is epistaxis, which, together with gastrointestinal bleeding, may cause iron deficiency anemia. This study is a case report of a 62-year-old patient who was admitted to the Department of Gastroenterology due to acute upper gastrointestinal bleeding and a history of recurrent epistaxis and melena for 4 days, which was confirmed in digital rectal examination. Urgent upper gastrointestinal endoscopy revealed active bleeding from multiple angioectatic spots with bright-looking salmon-colored patches in the antrum and the body suggestive of HHT. The bleeding from two angioectatic spots was stopped by argon plasma coagulation, and four clips were placed to provide good hemostasis. The patient was treated with a proton pomp inhibitor infusion and iron infusion. She was discharged with no signs of GI bleeding, normalized iron levels and a diagnosis of HHT. She was referred to further genetic testing, including evaluation of first-degree relatives. She also had performed unenhanced thin-cut computed tomography (CT) with angiography to exclude the presence of pulmonary arteriovenous malformations (PAVMs). Due to the fact that the patient did not manifest any other HHT-related symptoms and that the instrumental screening discloses no silent AVMs in other organs, the "watch-and-wait strategy" was applied. Although, Osler-Weber-Rendu syndrome is widely described in the medical literature, effective treatment of gastrointestinal telangiectasias is not always available and still lacks standardization to date, which makes the management of gastroenterological involvement still a challenging issue.

摘要

奥-韦-兰杜病,又称遗传性出血性毛细血管扩张症(HHT),是一种罕见的常染色体显性遗传疾病,约每 5000 名患者中就有 1 名受到影响,导致异常血管形成。HHT 患者存在黏膜和皮肤毛细血管扩张和多种器官的动静脉畸形。HHT 的最突出症状是鼻出血,加上胃肠道出血,可能导致缺铁性贫血。本研究报道了 1 例 62 岁患者,因急性上消化道出血和反复鼻出血及黑便 4 天而入住消化科,直肠指检证实。紧急上消化道内镜检查显示多个血管扩张部位有活动出血,胃窦和体部可见外观光亮的三文鱼色斑片状,提示 HHT。通过氩等离子凝固术止住了 2 个血管扩张部位的出血,并放置了 4 个夹以提供良好的止血效果。患者接受质子泵抑制剂输注和铁输注治疗。她出院时没有任何胃肠道出血迹象,铁水平正常,诊断为 HHT。她被转介进行进一步的基因检测,包括对一级亲属的评估。她还进行了增强型薄层 CT(CT)血管造影以排除肺动静脉畸形(PAVMs)。由于患者没有表现出任何其他 HHT 相关症状,且仪器筛查未发现其他器官存在沉默性 AVM,因此采用了“观察等待策略”。尽管奥-韦-兰杜综合征在医学文献中广泛描述,但胃肠道毛细血管扩张症的有效治疗并不总是可行,且迄今为止仍然缺乏标准化,这使得胃肠道受累的管理仍然是一个具有挑战性的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac07/8951266/c5e31a29c463/medicina-58-00333-g001.jpg

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