Liver and intrahepatic bile ducts - nontumor
Vascular disorders
Hereditary hemorrhagic telangiectasia

Author: Raul S. Gonzalez, M.D. (see Authors page)

Revised: 16 January 2018, last major update January 2018

Copyright: (c) 2003-2018, PathologyOutlines.com, Inc.

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

Cite this page: Gonzalez, R. S. Hereditary hemorrhagic telangiectasia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/liverHHT.html. Accessed May 25th, 2018.
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
Terminology
  • Also called Osler-Weber-Rendu disease
Epidemiology
  • Up to 30% of patients with the syndrome develop liver disease (N Engl J Med 2000;343:931), though not all will be symptomatic
Pathophysiology
  • 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)
Diagnosis
  • 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

Treatment
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

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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)
Board review 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 answer #1
A. ALK1 (ACVRL1)