Department of Otolaryngology, Ninewells Hospital, Dundee, UK.
Liverpool Head and Neck Centre, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.
Br J Hosp Med (Lond). 2021 Nov 2;82(11):1-9. doi: 10.12968/hmed.2020.0560. Epub 2021 Nov 23.
Patients with hereditary haemorrhagic telangiectasia can present with a multitude of symptoms caused by telangiectasia and arteriovenous malformations in the nose, brain, gastrointestinal tract, liver and spinal cord. Clinicians should be aware of the potential diagnosis of hereditary haemorrhagic telangiectasia and how to manage these patients both in the acute and chronic setting. Identifying these patients and optimising their management can help reverse the reduced life expectancy back to that of the normal population. The management of these patients is complex and often requires a multidisciplinary approach, with difficult discussions to be had around screening for arteriovenous malformations and genetic testing. The stepwise management ladder can be used in both the medical and surgical strategies; there are multiple pharmacological and surgical options available, all with their own side effects and risks. Patient education is key to help informed decision making. This article outlines the clinical characteristics of the disease and management options available.
遗传性出血性毛细血管扩张症患者可因鼻部、脑、胃肠道、肝脏和脊髓的毛细血管扩张和动静脉畸形而出现多种症状。临床医生应意识到遗传性出血性毛细血管扩张症的潜在诊断，以及如何在急性和慢性情况下管理这些患者。识别这些患者并优化其管理有助于将预期寿命缩短恢复到正常人群。这些患者的管理较为复杂，通常需要多学科方法，需要就动静脉畸形筛查和基因检测进行艰难的讨论。阶梯式管理梯可用于医疗和手术策略；有多种药理学和手术选择，各有其自身的副作用和风险。患者教育是做出知情决策的关键。本文概述了该疾病的临床特征和可用的治疗选择。
