Nikolaou Irini, Rafailidis Vasileios, Kartas Anastasios, Kouskouras Konstantinos, Giannakoulas Georgios
Department of Radiology, AHEPA University Hospital of Thessaloniki, Stilponos Kiriakidi 1, 54621, Thessaloniki, Greece.
Department of Cardiology, AHEPA University Hospital of Thessaloniki, Greece.
Radiol Case Rep. 2020 Dec 18;16(3):483-486. doi: 10.1016/j.radcr.2020.12.024. eCollection 2021 Mar.
Rendu Osler Weber syndrome is a rare disorder, in which arteriovenous malformations are a hallmark feature. We describe the case of a 77-year-old female patient who presented with dyspnea, recurrent epistaxis, and signs of right ventricular heart failure, along with hypoxia and severe anemia. Several imaging modalities facilitated diagnostic workup. The computed tomography revealed an area of pulmonary arteriovenous malformation. Visceral involvement, along with clinical criteria and medical history, established the diagnosis of Rendu Osler Weber syndrome. The patient was scheduled for embolization of the PAVM soon after the diagnosis. Proper imaging, guided by clinical suspicion can be extremely helpful in diagnosing and treating this rare entity.
遗传性出血性毛细血管扩张症是一种罕见的疾病，其特征性表现为动静脉畸形。我们描述了一例77岁女性患者，她出现呼吸困难、反复鼻出血、右心室心力衰竭体征，同时伴有低氧血症和严重贫血。多种影像学检查手段有助于诊断性检查。计算机断层扫描显示肺部存在动静脉畸形区域。内脏受累，结合临床标准和病史，确诊为遗传性出血性毛细血管扩张症。诊断后不久，该患者被安排进行肺动静脉畸形栓塞术。基于临床怀疑进行适当的影像学检查对诊断和治疗这种罕见疾病非常有帮助。
