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介入放射学在遗传性出血性毛细血管扩张症患者治疗中的作用。

The role of interventional radiology in treatment of patients with hereditary hemorrhagic telangiectasia.

机构信息

Medical University of Lublin, Department of Interventional Radiology and Neuroradiology, Lublin, Poland.

Medical University of Lublin, Department of Neurosurgery, Lublin, Poland.

出版信息

Eur J Radiol. 2023 May;162:110769. doi: 10.1016/j.ejrad.2023.110769. Epub 2023 Mar 15.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu disease is a rare autosomal dominant, multi-organ disorder that leads to formation of abnormal vascular connections resulting in devastating and life-threatening complications. Due to its multisystem character, wide range of clinical manifestations and variable expressivity, HHT remains a diagnostic challenge and requires close cooperation of specialists from various medical fields. Interventional radiology plays a key role in the management of this disease, helping maintain the health of HHT patients and minimize the risk of fatal complications. The aim of this article is to review clinical manifestations, diagnostic guidelines and criteria of HHT as well as to present the means of endovascular therapy in the management of HHT patients.

摘要

遗传性出血性毛细血管扩张症(HHT),也称为 Osler-Weber-Rendu 病,是一种罕见的常染色体显性遗传、多器官疾病,导致异常血管连接的形成,从而导致破坏性和危及生命的并发症。由于其多系统特征、广泛的临床表现和可变的表达性,HHT 仍然是一个诊断挑战,需要来自各个医学领域的专家密切合作。介入放射学在该病的治疗中起着关键作用,有助于维持 HHT 患者的健康并最大程度地降低致命并发症的风险。本文的目的是回顾 HHT 的临床表现、诊断指南和标准,并介绍血管内治疗方法在 HHT 患者管理中的应用。

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