Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1 , ENG or SMAD4 , we found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria. The genetic diagnostic rate was similar for patients with three (104/137, 76%) or one to two (48/71, 68%; p=0.25) criteria. Of 83 unrelated probands with PAVM(s) and genetically-confirmed HHT, 20/83 (24%) had few, if any, features of HHT. Enhanced clinical suspicion, as well as HHT genetic testing, is recommended if one or more PAVMs are present.

中文翻译：

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肺动静脉畸形可能是基因证实的遗传性出血性毛细血管扩张症的唯一临床标准

肺动静脉畸形 (PAVM) 会导致需要专科护理的可预防并发症。如果考虑诊断，则可以通过基因检测确定潜在的遗传性出血性毛细血管扩张症 (HHT)。回顾性回顾 152 名因 AVRL1 、 ENG 或 SMAD4 基因证实为 HHT 的无关成人，我们发现只有 104/152 (68%) 符合三个库拉索岛标准的 HHT 临床诊断。具有三个 (104/137, 76%) 或一到两个 (48/71, 68%; p=0.25) 标准的患者的遗传诊断率相似。在 83 名患有 PAVM 和遗传证实的 HHT 的无关先证者中，20/83 (24%) 几乎没有 HHT 的特征（如果有的话）。如果存在一个或多个 PAVM，建议加强临床怀疑以及 HHT 基因检测。