Harwin Joelle, Sugi Mark D, Hetts Steven W, Conrad Miles B, Ohliger Michael A
Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA 94143, USA.
Department of Radiology, Zuckerberg San Francisco General Hospital, San Francisco, CA 94110, USA.
J Clin Med. 2020 Nov 21;9(11):3750. doi: 10.3390/jcm9113750.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by spontaneous epistaxis, telangiectasia, and visceral vascular malformations. Hepatic vascular malformations are common, though a minority are symptomatic. Symptoms are dependent on the severity and exact type of shunting caused by the hepatic malformation: Arteriosystemic shunting leads to manifestations of high output cardiac failure, and arterioportal shunting leads to portal hypertension. Radiologic imaging, including ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI), is an important tool for assessing liver involvement. Doppler ultrasonography is the first-line screening modality for HHT-related liver disease, and it has a standardized scale. Imaging can determine whether shunting is principally to the hepatic vein or the portal vein, which can be a key determinant of patients' symptoms. Liver-related complications can be detected, including manifestations of portal hypertension, focal liver masses as well as ischemic cholangiopathy. Ultrasound and MRI also have the ability to quantify blood flow through the liver, which in the future may be used to determine prognosis and direct antiangiogenic therapy.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管疾病，其特征为自发性鼻出血、毛细血管扩张和内脏血管畸形。肝血管畸形很常见，不过少数有症状。症状取决于肝畸形导致的分流的严重程度和确切类型：动-体循环分流导致高输出量心力衰竭的表现，而动-门脉分流导致门静脉高压。包括超声、计算机断层扫描（CT）和磁共振成像（MRI）在内的放射学成像，是评估肝脏受累情况的重要工具。多普勒超声检查是HHT相关肝脏疾病的一线筛查方式，且有标准化的量表。成像可确定分流主要是进入肝静脉还是门静脉，这可能是患者症状的关键决定因素。可检测出与肝脏相关的并发症，包括门静脉高压的表现、肝脏局灶性肿块以及缺血性胆管病。超声和MRI还能够量化通过肝脏的血流量，未来这可能用于确定预后及指导抗血管生成治疗。
