Memeo Maurizio, Scardapane Arnaldo, Stabile Ianora Amato Antonio, Sabbà Carlo, Angelelli Giuseppe
Department of Radiology, DIMIMP, University Interdepartmental HHT Centre, University of Bari, Italy.
Curr Pharm Des. 2006;12(10):1227-35. doi: 10.2174/138161206776361363.
Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterised by mucocutaneous or visceral angiodysplastic lesions (telangiectases and arteriovenous malformations), which may be widely distributed throughout the cardiovascular system. Its diagnosis is based on clinical criteria. Liver, lungs and brain, in order of prevalence, are the most frequently involved visceral districts of the body other than skin and nasal mucosa. Liver involvement is frequent and characterised by the presence of intrahepatic shunts, disseminated intraparenchymal telangiectases and other vascular lesions. Although it is usually asymptomatic, congestive cardiac failure, portal hypertension, portosystemic encephalopathy, cholangitis or atypical cirrhosis are possible complications. Pulmonary arteriovenous malformations involve more than one third of HHT patients and can consist of diffuse telangiectases or high-flow low-pressure shunts between pulmonary arteries and veins. Pulmonary involvement can cause serious complications: hypoxaemia, pulmonary or pleural hemorrhage, paradoxical embolism into cerebral circulation. Various types of cerebrovascular malformations can affect HHT patients and the most common are arteriovenous malformations, consisting of one or more feeding arteries connected to one or more draining veins. Diagnostic imaging has a fundamental role in detecting the alterations involving these various districts in the body. The possibility to perform fast and complete studies and to provide high quality multiplanar and angiographic reconstructions, gives multi-detector row helical computed tomography and magnetic resonance the ability to detect and characterise the complex anatomo-pathological alterations typical of HHT. Ultrasonography seems to be the best screening modality for hepatic and pulmonary involvement.
遗传性出血性毛细血管扩张症（HHT），也称为伦杜-奥斯勒-韦伯病，是一种常染色体显性遗传性血管疾病，其特征为黏膜皮肤或内脏血管发育异常性病变（毛细血管扩张和动静脉畸形），这些病变可能广泛分布于整个心血管系统。其诊断基于临床标准。按受累频率排序，肝脏、肺和脑是除皮肤和鼻黏膜外身体最常受累的内脏区域。肝脏受累很常见，其特征为肝内分流、弥漫性实质内毛细血管扩张和其他血管病变的存在。虽然通常无症状，但充血性心力衰竭、门静脉高压、门体性脑病、胆管炎或非典型肝硬化都是可能的并发症。肺动静脉畸形累及超过三分之一的HHT患者，可由弥漫性毛细血管扩张或肺动脉与静脉之间的高流量低压分流组成。肺部受累可导致严重并发症：低氧血症、肺或胸膜出血、反常栓塞进入脑循环。各种类型的脑血管畸形可影响HHT患者，最常见的是动静脉畸形，由一条或多条供血动脉连接到一条或多条引流静脉组成。诊断性影像学在检测身体这些不同区域的病变方面具有重要作用。能够进行快速完整的检查并提供高质量的多平面和血管造影重建，使多排螺旋计算机断层扫描和磁共振成像有能力检测和表征HHT典型的复杂解剖病理改变。超声检查似乎是筛查肝脏和肺部受累的最佳方式。
