Liver involvement in hereditary hemorrhagic telangiectasia

Abstract

Liver vascular malformations (VMs) in hereditary hemorrhagic telangiectasia (HHT) are typically diffuse and can evolve from small telangiectasias to large arteriovenous malformations, with various stages of severity. Doppler US is the ideal first-line investigation for the assessment of liver VMs in HHT due to its safety, tolerability, low costs, and accuracy for the detection of liver VMs. The caliber, course, and flow characteristics in the hepatic artery, portal vein, and hepatic vein as determined by Doppler US, together with parenchymal abnormalities, support the diagnosis of liver VMs in HHT and their severity staging. When Doppler US expertise is lacking or an assessment of HHT patients with symptoms/signs suggestive of complicated liver VMs is required, particularly if OLT is considered, multiphase CT or MRI is suitable to investigate symptomatic liver VMs. Liver biopsy is neither necessary for the diagnosis of hepatic VMs related to HHT nor should be considered in HHT patients with liver mass/es suggestive of focal nodular hyperplasia.

Keywords: Computed tomography; Doppler US; Hereditary hemorrhagic telangiectasia; Liver; Magnetic resonance imaging; Vascular malformations.