Liver & intrahepatic bile ducts

Vascular disorders

Hereditary hemorrhagic telangiectasia

Topic Completed: 8 January 2021

Minor changes: 11 January 2021

Copyright: 2003-2021,, Inc.

PubMed Search: Hereditary hemorrhagic telangiectasia[TI] liver[TI]

Raul S. Gonzalez, M.D.
Page views in 2020: 1,088
Page views in 2021 to date: 1,437
Cite this page: Gonzalez R. Hereditary hemorrhagic telangiectasia. website. Accessed December 8th, 2021.
Definition / general
  • Hereditary disease causing systemic telangiectasias, including in the liver
Essential features
  • Syndrome that can cause telangiectasias or proliferative portal vessels within the liver
  • Patients with liver involvement can develop cardiac failure
  • Also called Osler-Weber-Rendu disease
  • Up to 30% of patients with the syndrome develop liver disease, though not all will be symptomatic (N Engl J Med 2000;343:931)
  • Vascular abnormalities can cause liver hyperperfusion, resulting in heart failure
Clinical features
  • Patients may develop heart failure, portal hypertension and biliary disease from liver involvement (N Engl J Med 2000;343:931)
  • Typically confirmed radiologically
Radiology description
Radiology images

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CT manifestations of Osler-Weber-Rendu syndrome in liver

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Biliary type of HHT

Microscopic (histologic) description
  • Thin walled portal vessels may proliferate, extend into parenchyma and become associated with fibrosis (periportal telangiectasia) and sinusoidal dilation
  • Common hepatic artery is enlarged
  • Vascular shunts may be arterioportal, arteriovenous or portovenous (Semin Liver Dis 2008;28:247)
  • Background focal nodular hyperplasia or nodular regenerative hyperplasia may be seen (Ultrasound Med Biol 2004;30:1089)
  • May rarely cause hepatic necrosis with bile extravasaion (Histopathology 2003;42:265)
Microscopic (histologic) images

Contributed by Raul S. Gonzalez, M.D.
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Portal tract in HHT

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Vascular abnormalities

Molecular / cytogenetics description
  • Patients with liver disease more likely to have ALK1 (ACVRL1) mutation (HHT type 2) than ENG mutation (HHT type 1) (Hum Mutat 2005;25:320)
Sample pathology report
  • Liver, biopsy:
    • Liver parenchyma with numerous vascular channels within portal tracts and sinusoidal dilation (see comment)
    • Comment: The findings are consistent with the patient’s reported history of hereditary hemorrhagic telangiectasia. Trichrome and iron stains are unremarkable.
Board review style question #1
    A patient develops high output cardiac failure with refractory epistaxis and dies. Autopsy shows numerous arteriovenous shunts throughout the liver, accompanied by sinusoidal dilation. Molecular testing on this patient would most likely show a germline mutation in which of the following genes?

    A. ALK1 (ACVRL1)
    B. FLT4
    C. SMAD4
    D. TEK
    E. VHL
Board review style answer #1
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