Department of Pulmonology, St. Antonius Hospital, Nieuwegein, The Netherlands.
Division of Respirology, Department of Medicine, Toronto HHT Centre, University of Toronto.
Curr Opin Pulm Med. 2018 May;24(3):260-268. doi: 10.1097/MCP.0000000000000472.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by telangiectasia and arteriovenous malformations (AVMs). To date, five genetic types of HHT and one combined juvenile polyposis syndrome and HHT are known. Clinical and genetic screening of patients suspected with HHT is recommended to confirm the diagnosis and to prevent complications associated with HHT. The aim of this article is to give an overview of the evidence and to formulate a recommendation for clinicians concerning screening for HHT.
Complications of HHT such as stroke, brain abscess and intracranial hemorrhage are caused by pulmonary and cerebral AVMs (CAVMs) and can often be prevented by screening and treatment when possible. Screening and treatment of these AVMs will result in an increased life expectancy comparable with that of the general population as opposed to unscreened and untreated HHT patients.
Screening of HHT patients and their first-degree relatives is recommended to prevent severe complications including stroke, brain abscess and intracranial hemorrhage.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传性疾病，其特征为毛细血管扩张和动静脉畸形（AVMs）。迄今为止，已知有 5 种 HHT 遗传类型和 1 种青少年息肉综合征合并 HHT。建议对疑似 HHT 的患者进行临床和遗传筛查，以确认诊断并预防与 HHT 相关的并发症。本文旨在概述相关证据，并为临床医生制定 HHT 筛查的建议。
HHT 的并发症，如中风、脑脓肿和颅内出血，是由肺部和脑部 AVM（CAVMs）引起的，当可能时，通过筛查和治疗通常可以预防。筛查和治疗这些 AVMs 可提高预期寿命，使其与一般人群相当，而未经筛查和未经治疗的 HHT 患者则不然。
建议对 HHT 患者及其一级亲属进行筛查，以预防包括中风、脑脓肿和颅内出血在内的严重并发症。
