[Liver involvement in hereditary hemorrhagic telangiectasia]

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease with an autosomal dominant inheritance pattern, characterized by widespread telangiectases that can involve the skin, mucous membranes, lung, brain, gastrointestinal tract and/or liver. It has an estimated prevalence of 1 to 2 cases per 10,000. The prevalence of hepatic involvement in HHT had been estimated in 8% to 31% in retrospective studies but in more recent large prospective series the prevalence is higher, ranging between 41% and 78%. Nevertheless, symptoms occur only in 8% of the patients with HHT and liver involvement. Liver involvement by HHT is characterized by widespread diffuse liver vascular malformations that give rise to three types of shunting: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal vein), and portovenous (portal vein to hepatic vein). The three most common initial clinical presentations are high-output heart failure, portal hypertension and biliary disease. We describe the case of a patient with diagnosis of HHT and hepatic involvement and we review of the literature. A 58-year-old woman with HHT came to consultation with heart failure symptoms and echographic and endoscopic findings of portal hypertension. The multislice computed tomography of the abdomen revealed the presence of multiple telangiectases in the hepatic parenchyma and a shunt from the hepatic artery to the portal vein. We conclude that the symptomatic involvement of the liver in HHT is an extremely infrequent entity. It must be suspected when clinical manifestations and compatible imagenologic findings exist in patients with antecedents of HHT.