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Hereditary hemorrhagic telangiectasia diagnosed by enteroscopy: a case report

机译:肠镜检查诊断的遗传出血性脑梗塞症:案例报告

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Hereditary hemorrhagic telangiectasia (HHT) is a very rare autosomal dominant multisystemic disease. Patients with this disease usually present with punctate mucocutaneous telangiectasias and arteriovenous malformations. The diagnostic criteria currently in use are the Cura?ao criteria. HHT is considered a clinical diagnosis; thus, no imaging or preclinical laboratory is mandatory, and diagnosis and management are performed according to the experience of the treating team. We herein describe a 58-year-old man with no significant medical history who presented with a 15-day history of intermittent hematochezia. He was admitted to the hospital and underwent a series of laboratory tests, including colonoscopy, which showed normal results. Therefore, the patient was discharged with a diagnosis of gastrointestinal bleeding. During his second visit to the emergency room, the doctors requested video capsule endoscopy because of the patient’s history, and a diagnosis of HHT was made. The entire approach and treatment were completed with antegrade double-balloon enteroscopy. This case highlights the importance of endoscopic methods for timely diagnosis and proper management.
机译:遗传性出血性胞菌(HHT)是一种非常罕见的常染色体显性多系统疾病。这种疾病的患者通常存在于粘合性粘膜皮肤病和动脉畸形的斑点畸形。目前正在使用的诊断标准是凝固率?AO标准。 HHT被认为是临床诊断;因此,没有强制性或临床前实验室是强制性的,并且根据治疗团队的经验进行诊断和管理。我们在此处描述了一个58岁的男子,没有明显的病史,他们介绍了15天的间歇性血液历史。他被录取到医院,并经历了一系列实验室测试,包括结肠镜检查,表明正常结果。因此,患者被排出,并诊断胃肠道出血。在对急诊室的第二次访问期间,医生因患者的历史而要求视频胶囊内窥镜检查,并制造了HHT的诊断。通过促进的双气球肠镜检查完成整个方法和治疗。这种情况强调了内窥镜方法及时诊断和适当管理的重要性。

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