Portal Hypertension in Osler-Weber-Rendu Syndrome: A Case Report

Abstract

Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous). Clinically, liver disease can manifest as a high-output cardiac failure, portal hypertension, or biliary disease. Imaging plays an important role in diagnosis, characterization, and follow-up of liver involvement, with ultrasound, computed tomography, magnetic resonance imaging, and angiography being useful in this context. We present a case of patient with Osler-Weber-Rendu syndrome with portal hypertension without evidence of liver cirrhosis.