Hereditary multiorgan disorder resulting in fibrovascular dysplasia with development of telangiectasias and arteriovenous malformations (AVMs)
Direct connection between arteries and veins with absence of capillaries; telangiectasias are small AVMs
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Dupuis O et al: Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature. Orphanet J Rare Dis. 15(1):5, 2020
Harwin J et al: The role of liver imaging in hereditary hemorrhagic telangiectasia. J Clin Med. 9(11), 2020
Dumortier J et al: Recurrence of hereditary hemorrhagic telangiectasia after liver transplantation: clinical implications and physiopathological insights. Hepatology. 69(5):2232-40, 2019
Buscarini E et al: Liver involvement in hereditary hemorrhagic telangiectasia. Abdom Radiol (NY). 43(8):1920-30, 2018
Felli E et al: Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review. HPB (Oxford). 19(7):567-72, 2017
Gaujoux S et al: Liver resection in patients with hepatic hereditary hemorrhagic telangiectasia. Dig Surg. 30(4-6):410-4, 2013
Barral M et al: Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients. Eur Radiol. 22(1):161-70, 2012
Dupuis-Girod S et al: Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 307(9):948-55, 2012
Buscarini E et al: Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 56(7):2166-78, 2011
McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
Sekarski LA et al: Hereditary hemorrhagic telangiectasia: children need screening too. Pediatr Nurs. 37(4):163-8; quiz 169, 2011
Song X et al: Individualized management of hepatic diseases in hereditary hemorrhagic telangiectasia. Am Surg. 77(3):281-5, 2011
Gincul R et al: Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology. 48(5):1570-6, 2008
Khalid SK et al: Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Semin Liver Dis. 28(3):247-58, 2008
Milot L et al: Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. Gastroenterol Clin Biol. 32(8-9):677-85, 2008
Sharathkumar AA et al: Hereditary haemorrhagic telangiectasia. Haemophilia. 14(6):1269-80, 2008
Siddiki H et al: Abdominal findings in hereditary hemorrhagic telangiectasia: pictorial essay on 2D and 3D findings with isotropic multiphase CT. Radiographics. 28(1):171-84, 2008
Torabi M et al: CT of nonneoplastic hepatic vascular and perfusion disorders. Radiographics. 28(7):1967-82, 2008
Ianora AA et al: Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement. Radiology. 230(1):250-9, 2004
Hashimoto M et al: Angiography of hepatic vascular malformations associated with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 26(2):177-80, 2003
Matsumoto S et al: Intrahepatic porto-hepatic venous shunts in Rendu-Osler-Weber disease: imaging demonstration. Eur Radiol. 2003
Hatzidakis AA et al: Hepatic involvement in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Eur Radiol. 12 Suppl 3:S51-5, 2002
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Hereditary hemorrhagic telangiectasia (HHT)
Synonyms
Osler-Weber-Rendu syndrome (OWR)
Definitions
Hereditary multiorgan disorder resulting in fibrovascular dysplasia with development of telangiectasias and arteriovenous malformations (AVMs)
Direct connection between arteries and veins with absence of capillaries; telangiectasias are small AVMs
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Dupuis O et al: Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature. Orphanet J Rare Dis. 15(1):5, 2020
Harwin J et al: The role of liver imaging in hereditary hemorrhagic telangiectasia. J Clin Med. 9(11), 2020
Dumortier J et al: Recurrence of hereditary hemorrhagic telangiectasia after liver transplantation: clinical implications and physiopathological insights. Hepatology. 69(5):2232-40, 2019
Buscarini E et al: Liver involvement in hereditary hemorrhagic telangiectasia. Abdom Radiol (NY). 43(8):1920-30, 2018
Felli E et al: Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review. HPB (Oxford). 19(7):567-72, 2017
Gaujoux S et al: Liver resection in patients with hepatic hereditary hemorrhagic telangiectasia. Dig Surg. 30(4-6):410-4, 2013
Barral M et al: Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients. Eur Radiol. 22(1):161-70, 2012
Dupuis-Girod S et al: Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 307(9):948-55, 2012
Buscarini E et al: Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 56(7):2166-78, 2011
McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
Sekarski LA et al: Hereditary hemorrhagic telangiectasia: children need screening too. Pediatr Nurs. 37(4):163-8; quiz 169, 2011
Song X et al: Individualized management of hepatic diseases in hereditary hemorrhagic telangiectasia. Am Surg. 77(3):281-5, 2011
Gincul R et al: Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology. 48(5):1570-6, 2008
Khalid SK et al: Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Semin Liver Dis. 28(3):247-58, 2008
Milot L et al: Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. Gastroenterol Clin Biol. 32(8-9):677-85, 2008
Sharathkumar AA et al: Hereditary haemorrhagic telangiectasia. Haemophilia. 14(6):1269-80, 2008
Siddiki H et al: Abdominal findings in hereditary hemorrhagic telangiectasia: pictorial essay on 2D and 3D findings with isotropic multiphase CT. Radiographics. 28(1):171-84, 2008
Torabi M et al: CT of nonneoplastic hepatic vascular and perfusion disorders. Radiographics. 28(7):1967-82, 2008
Ianora AA et al: Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement. Radiology. 230(1):250-9, 2004
Hashimoto M et al: Angiography of hepatic vascular malformations associated with hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 26(2):177-80, 2003