University College, London, UK.
Rhinology. 2012 Sep;50(3):277-83. doi: 10.4193/Rhino12.043.
Patients with hereditary haemorrhagic telangiectasia (HHT) are at risk of pulmonary arteriovenous malformations (PAVMs) that may be complicated by stroke and brain abscess. ENT surgeons are well placed to direct patients to screening, which was recommended for all HHT patients in recently published international guidelines.
METHODOLOGY/PRINCIPAL: A retrospective study of patients with known HHT was performed based on responses to a telephone questionnaire. Epistaxis was assessed using a validated epistaxis severity scoring system.
123 patients responded, with ages ranging from 14-86 years (mean 57 years). 80% of patients experienced their first symptom of HHT by 30 years old. Epistaxis was assessed at time of questionnaire as mild (26 patients), moderate (52 patients) or severe (45 patients). 71 patients (57.7% of total) underwent screening for PAVMs. 30 patients (42.2% of screened individuals) reported PAVMs detected by screening. 18 patients received treatment and 12 patients were found to have PAVMs too small for treatment. The modal screening method was computed tomography (CT, 58 patients) and the majority of patients with treatable PAVMs received trans-catheter embolisation (15 patients). Only 9 patients reported being under long term follow up for PAVMs. Shortness of breath (70.0% vs 41.5%, p<0.05) and migraine (43.3% vs 24.4%, p<0.05) were more common amongst patients found to have PAVMs than those without PAVMs. There was no difference in age of onset of HHT symptoms or epistaxis severity between patients with PAVMs and those without.
PAVMs are common in HHT patients and carry a risk of morbidity and mortality. Safe and effective treatment exists for PAVMs although a significant minority of patients has received no screening to date. Clinicians should refer all patients for screening regardless of symptoms.
遗传性出血性毛细血管扩张症（HHT）患者存在发生肺动静脉畸形（PAVMs）的风险，可能会并发中风和脑脓肿。耳鼻喉科医生能够很好地指导患者进行筛查，最近发布的国际指南建议对所有 HHT 患者进行筛查。
方法/原理：对基于电话问卷调查回复的已知 HHT 患者进行回顾性研究。使用已验证的鼻出血严重程度评分系统评估鼻出血。
123 名患者做出回应，年龄 14-86 岁（平均 57 岁）。80%的患者在 30 岁前出现 HHT 的首发症状。问卷调查时，80%的患者报告其鼻出血症状为轻度（26 例）、中度（52 例）或重度（45 例）。71 例（总人数的 57.7%）接受了 PAVMs 筛查。30 例（筛查个体的 42.2%）报告通过筛查发现 PAVMs。18 例接受了治疗，12 例发现 PAVMs 太小无法治疗。模态筛查方法为计算机断层扫描（CT，58 例），大多数有可治疗 PAVMs 的患者接受了经导管栓塞治疗（15 例）。只有 9 例患者报告正在接受 PAVMs 的长期随访。与无 PAVMs 的患者相比，有 PAVMs 的患者更常出现呼吸急促（70.0%对 41.5%，p<0.05）和偏头痛（43.3%对 24.4%，p<0.05）。有 PAVMs 的患者与无 PAVMs 的患者的 HHT 症状发作年龄或鼻出血严重程度无差异。
HHT 患者中 PAVMs 很常见，存在发病和死亡风险。存在安全有效的 PAVMs 治疗方法，尽管迄今为止仍有相当一部分患者未接受筛查。无论症状如何，临床医生都应建议所有患者进行筛查。
