VASCERN HHT Reference Centre, Hospices Civils de Lyon, Lyon, France.
Niguarda Hospital, Milan, Italy and VASCERN HHT Reference Centre, Crema, Italy.
Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9.
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to potentially devastating consequences in case of rupture. On the other hand, detection and treatment related-risks are not negligible, and immediate. While successful treatment can be undertaken in individual cases, current data do not support the treatment of unruptured AVMs, which also present a low risk of bleeding in HHT patients. Screening for these AVMs is therefore controversial.Structured discussions, distinctions of different cerebrovascular abnormalities commonly grouped into an "AVM" bracket, and clear guidance by neurosurgical and neurointerventional radiology colleagues enabled the European Reference Network for Rare Vascular Disorders (VASCERN-HHT) to develop the following agreed Position Statement on cerebral screening:1) First, we emphasise that neurological symptoms suggestive of cerebral AVMs in HHT patients should be investigated as in general neurological and emergency care practice. Similarly, if an AVM is found accidentally, management approaches should rely on expert discussions on a case-by-case basis and individual risk-benefit evaluation of all therapeutic possibilities for a specific lesion.2) The current evidence base does not favour the treatment of unruptured cerebral AVMs, and therefore cannot be used to support widespread screening of asymptomatic HHT patients.3) Individual situations encompass a wide range of personal, cultural and clinical states. In order to enable informed patient choice, and avoid conflicting advice, particularly arising from non-neurovascular interpretations of the evidence base, we suggest that all HHT patients should have the opportunity to discuss knowingly brain screening issues with their healthcare provider.4) Any screening discussions in asymptomatic individuals should be preceded by informed pre-test review of the latest evidence regarding preventative and therapeutic efficacies of any interventions. The possibility of harm due to detection of, or intervention on, a vascular malformation that would not have necessarily caused any consequence in later life should be stated explicitly.We consider this nuanced Position Statement provides a helpful, evidence-based framework for informed discussions between healthcare providers and patients in an emotionally charged area.
遗传性出血性毛细血管扩张症（HHT）是一种多系统血管发育不良，遗传方式为常染色体显性遗传。大约 10%的患者存在脑血管畸形，其中一部分为脑动静脉畸形（AVM）和瘘管，如果破裂可能导致严重后果。另一方面，检测和治疗相关风险不容忽视，且需及时处理。虽然在个别情况下可以进行成功的治疗，但目前的数据并不支持治疗未破裂的 AVM，因为 HHT 患者的 AVM 出血风险也较低。因此，对这些 AVM 进行筛查存在争议。通过与神经外科和神经介入放射学同事进行结构化讨论、区分通常归入“AVM”范畴的不同脑血管异常，并提供明确的指导，欧洲罕见血管疾病参考网络（VASCERN-HHT）制定了以下关于脑筛查的一致立场声明：1）首先，我们强调，HHT 患者出现疑似脑 AVM 的神经系统症状应按照一般神经科和急救护理实践进行调查。同样，如果意外发现 AVM，则应根据具体病变的所有治疗可能性进行个案讨论和个体风险效益评估来确定管理方法。2）目前的证据基础不支持治疗未破裂的脑 AVM，因此不能用于支持对无症状 HHT 患者进行广泛筛查。3）个体情况涵盖广泛的个人、文化和临床状态。为了使患者能够知情选择，并避免因对证据基础的非血管神经学解读而产生冲突的建议，我们建议所有 HHT 患者都有机会与医疗保健提供者讨论脑部筛查问题。4）在无症状个体中进行任何筛查讨论之前，应事先对任何干预措施的预防和治疗效果的最新证据进行知情预测试评估。应明确说明因检测或干预可能导致的血管畸形造成的伤害，这些畸形在以后的生活中不一定会产生任何后果。我们认为，这一细致入微的立场声明为医疗保健提供者和患者在充满情感的领域提供了一个有益的、基于证据的讨论框架。
