Bernardes Carlos, Santos Sara, Loureiro Rafaela, Borges Verónica, Ramos Gonçalo
Gastroenterology Department, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.
GE Port J Gastroenterol. 2018 Mar;25(2):91-95. doi: 10.1159/000481289. Epub 2017 Oct 5.
Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Despite endoscopic and medical treatment attempts with hormonal agents and octreotide, she developed persistent hemorrhage and severe anemia, requiring frequent red blood cell transfusions. Immediately after initiating bevacizumab (7.5 mg/kg, every 3 weeks), complete cessation of bleeding episodes was observed. Currently, after 1 year of follow-up, she maintained sustained remission without the occurrence of adverse events.
伦杜-奥斯勒-韦伯病，又称遗传性出血性毛细血管扩张症，是一种罕见的常染色体显性疾病，其特征通常为反复鼻出血、黏膜皮肤和胃肠道毛细血管扩张以及内脏动静脉畸形。胃肠道受累的患者病情严重程度差异很大，从单纯的缺铁性贫血到持续难治性出血不等。我们报告一例62岁女性患者，因多次黑便入院，内镜检查发现胃和小肠有多处血管发育异常。尽管尝试了内镜治疗以及使用激素药物和奥曲肽进行药物治疗，但她仍持续出血并出现严重贫血，需要频繁输注红细胞。在开始使用贝伐单抗（7.5mg/kg，每3周一次）后，立即观察到出血事件完全停止。目前，经过1年的随访，她维持持续缓解状态，未发生不良事件。
