Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
Department of Ear, Nose and Throat Surgery, Ninewells Hospital, Dundee, UK.
Br J Hosp Med (Lond). 2021 Nov 2;82(11):1-9. doi: 10.12968/hmed.2020.0537. Epub 2021 Nov 23.
Hereditary haemorrhagic telangiectasia is a rare, genetic disorder that can present at any age. It is characterised by epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, which can affect multiple organs. Early diagnosis and management reduces the morbidity and mortality associated with the disease. There is a well-established hereditary haemorrhagic telangiectasia clinic in London, and excellent links across Europe via the European Reference Network. However, local coordinated care for patients with hereditary haemorrhagic telangiectasia across the UK can be variable and often absent for children and young people. Some patients travel long distances to receive care in London, while others are referred to local clinicians or lost to follow up entirely. This article presents the experience to date from two regional UK centres (Liverpool and Dundee) where care for patients with hereditary haemorrhagic telangiectasia is being coordinated and streamlined. While there is still a lot to learn, this article highlights some of the successes and challenges identified so far, with suggestions for how these could be addressed. Collaborative regional networks such as these can facilitate the sharing of best practice and ensure that all patients with hereditary haemorrhagic telangiectasia are able to access safe, high-quality care.
遗传性出血性毛细血管扩张症是一种罕见的遗传性疾病，可在任何年龄发病。其特征为鼻出血、黏膜皮肤毛细血管扩张和内脏动静脉畸形，可影响多个器官。早期诊断和治疗可降低与该病相关的发病率和死亡率。伦敦有一个成熟的遗传性出血性毛细血管扩张症诊所，通过欧洲参考网络与欧洲各地建立了良好的联系。然而，英国各地为遗传性出血性毛细血管扩张症患者提供的本地协调护理可能存在差异，而且儿童和年轻人往往缺乏这种护理。一些患者长途跋涉前往伦敦接受治疗，而其他患者则被转介给当地临床医生，或完全失去随访。本文介绍了来自英国两个地区中心（利物浦和邓迪）的最新经验，这些中心正在协调和简化遗传性出血性毛细血管扩张症患者的护理。虽然还有很多需要学习，但本文强调了迄今为止确定的一些成功和挑战，并就如何解决这些问题提出了建议。像这样的协作性区域网络可以促进最佳实践的共享，并确保所有遗传性出血性毛细血管扩张症患者都能够获得安全、高质量的护理。
