From the Russell H. Morgan Department of Radiology and Radiological Science (A.R.K., A.J.S., C.B., M.A.L., C.R.W.), Department of Otolarygology-Head and Neck Surgery (N.R.R.), and Department of Medicine, Division of Pulmonology (P.G.), The Johns Hopkins University School of Medicine, 1800 Orleans St, Sheikh Zayed Tower, Baltimore, MD 21287.
Radiographics. 2021 Nov-Dec;41(7):2157-2175. doi: 10.1148/rg.2021210100.
Hemorrhagic hereditary telangiectasia (HHT) is a rare autosomal dominant disorder that causes multisystem vascular malformations including mucocutaneous telangiectasias and arteriovenous malformations (AVMs). Clinical and genetic screening of patients with signs, symptoms, or a family history suggestive of HHT is recommended to confirm the diagnosis on the basis of the Curaçao criteria and prevent associated complications. Patients with HHT frequently have epistaxis and gastrointestinal bleeding from telangiectasias. Pulmonary AVMs are common right-to-left shunts between pulmonary arteries and veins that can result in dyspnea and exercise intolerance, heart failure, migraine headaches, stroke or transient ischemic attacks, brain abscesses, or in rare cases, pulmonary hemorrhage. Primary neurologic complications from cerebral AVMs, which can take on many forms, are less common but particularly severe complications of HHT. Multimodality imaging, including transthoracic echocardiography, Doppler US, CT, and MRI, is used in the screening and initial characterization of vascular lesions in patients with HHT. Diagnostic angiography is an important tool in characterization of and interventional treatments for HHT, particularly those in the lungs and central nervous system. A multidisciplinary approach to early diagnosis, treatment, imaging, and surveillance at high-volume HHT Centers of Excellence is recommended. Although a variety of idiopathic, traumatic, or genetic conditions can result in similar clinical and imaging features, the Curaçao criteria are particularly useful for the proper diagnosis of HHT. Imaging and treatment options are reviewed, with a focus on screening, diagnosis, and posttreatment findings, with the use of updated international guidelines. RSNA, 2021.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的常染色体显性遗传疾病，可导致多系统血管畸形，包括黏膜皮肤毛细血管扩张症和动静脉畸形（AVM）。对于有迹象、症状或有 HHT 家族史的患者，建议进行临床和遗传筛查，以便根据 Curaçao 标准确诊并预防相关并发症。HHT 患者常因毛细血管扩张而出现鼻出血和胃肠道出血。肺 AVM 是肺动脉和静脉之间常见的右向左分流，可导致呼吸困难和运动耐量下降、心力衰竭、偏头痛、中风或短暂性脑缺血发作、脑脓肿，或在罕见情况下导致肺出血。源于多种形式的脑 AVM 的原发性神经系统并发症是 HHT 的较少见但特别严重的并发症。包括经胸超声心动图、多普勒超声、CT 和 MRI 在内的多模态影像学检查用于 HHT 患者血管病变的筛查和初步特征描述。诊断性血管造影是 HHT 特征描述和介入治疗，特别是肺部和中枢神经系统介入治疗的重要工具。建议采用多学科方法，在 HHT 卓越中心早期诊断、治疗、成像和监测。尽管多种特发性、创伤性或遗传性疾病可导致类似的临床和影像学特征，但 Curaçao 标准对于 HHT 的正确诊断特别有用。本文回顾了成像和治疗选择，重点介绍了筛查、诊断和治疗后发现，同时使用了最新的国际指南。RSNA，2021 年。
