Proux A, Tapiero S, Girszyn N, Levesque H, Marie I
Service de médecine interne, CHU de Rouen-Boisguillaume, 1, rue de Germont, 76031 Rouen cedex, France.
Rev Med Interne. 2007 Nov;28(11):775-9. doi: 10.1016/j.revmed.2007.06.005. Epub 2007 Jun 28.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia; mutations in at least three genes (ENG, ACVRL1 et MADH4), which are components of transforming growth factor (TGF)-beta, may lead to the clinical picture of HHT. HHT is a multisystemic angiodysplasia, resulting in multiple vascular malformations, involving notably the liver.
We report the case of a patient with anicteric cholestasis, revealing HHT. Abdominal CT-scan revealed hepatic artery dilation and multiple arteriovenous fistula. At 2-year follow-up, the patient exhibited liver involvement-associated high output cardiac insufficiency.
Liver involvement is frequent in HHT, occurring in 8-31% of patients; it may lead to life-threatening complications, such as high output cardiac failure, portal hypertension or severe cholangitis. Abdominal Doppler ultrasonography is a non-invasive accurate method, suitable for first-line imaging of the liver in patients with HHT; it should be done in all patients, in order to detect HHT-related hepatic vascular malformations.
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发育异常疾病；至少三个基因（ENG、ACVRL1和MADH4）发生突变，这些基因是转化生长因子（TGF）-β的组成部分，可能导致HHT的临床表现。HHT是一种多系统血管发育异常疾病，会导致多个血管畸形，尤其是累及肝脏。
我们报告了一例以无黄疸型胆汁淤积为表现而确诊为HHT的患者。腹部CT扫描显示肝动脉扩张和多处动静脉瘘。在2年的随访中，该患者出现了与肝脏受累相关的高输出量心力衰竭。
肝脏受累在HHT中很常见，发生率为8%-31%的患者；它可能导致危及生命的并发症，如高输出量心力衰竭、门静脉高压或严重胆管炎。腹部多普勒超声检查是一种非侵入性的准确方法，适用于HHT患者肝脏的一线成像检查；应对所有患者进行此项检查，以便检测与HHT相关的肝脏血管畸形。
