Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Liver Vascular Malformations

  • Elisabetta BuscariniEmail author
  • Guido Manfredi


Liver VMs unique to HHT are diffuse and can evolve in a continuum from small telangiectases to large arteriovenous malformations, in different stages of severity. Doppler US is the ideal first line investigation for the assessment of liver VMs in HHT taking into account its safety, tolerability, low costs, accuracy for the detection of liver VMs. Caliber, course, and flow characteristics in hepatic artery, portal vein and hepatic vein as determined by Doppler US, together with parenchymal abnormalities, support either the diagnosis of liver VMs in HHT and their severity staging. Wherever expertise of Doppler ultrasound is lacking, multiphase CT is a suitable alternative to investigate symptomatic liver VMs. Echocardiography is necessary to appreciate systemic hemodynamic impact of liver VMs. Assessment of HHT patients with symptoms/signs suggestive of complicated liver VMs, and particularly if OLT is considered either for refractory portal hypertension or cardiac failure, may require a combination of contrast enhanced imaging, upper digestive endoscopy, right heart catheterization or HVPG.


Hereditary hemorrhagic telangiectasia Vascular malformations Liver Doppler US Portal hypertension High output cardiac failure 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Gastroenterology and Endoscopy DepartmentHHT Reference CenterCremaItaly

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