Korean J Hepatol.
2011 Dec;17(4):313-318. 10.3350/kjhep.2011.17.4.313.
Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings
- Affiliations
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- 1Department of Internal Medicine, Vievis Namuh Hospital, Seoul, Korea.
- 2Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. yungslee@amc.seoul.kr
- 3Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 5Department of Internal Medicine, Inje University Haeundae Paik-Hospital, Inje University College of Medicine, Busan, Korea.
- KMID: 1792610
- DOI: http://doi.org/10.3350/kjhep.2011.17.4.313
Abstract
- This is a case report of a 68-year-old man with hepatocellular carcinoma (HCC) accompanied by hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, and hepatic vascular malformation. HHT is an autosomal dominant disorder of the fibrovascular tissue that is characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. HHT is caused by mutation of the genes involved in the signaling pathway of transforming growth factor-beta, which plays an important role in the formation of vascular endothelia1. Hepatic involvement has been reported as occurring in 30-73% of patients with HHT. However, symptomatic liver involvement is quite rare, and the representative clinical presentations of HHT in hepatic involvement are high-output heart failure, portal hypertension, nodular regenerative hyperplasia, and symptoms of biliary ischemia. Some cases of HCC in association with HHT have been reported, but are very rare. We present herein the characteristic radiologic and genetic findings of HHT that was diagnosed during the evaluation and treatment of HCC.
Keyword
MeSH Terms
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Activin Receptors, Type II/genetics
Aged
Angiography
Carcinoma, Hepatocellular/*complications/*therapy
Chemoembolization, Therapeutic
Exons
Gene Deletion
Humans
Liver Neoplasms/*complications/*therapy
Male
Mutation
*Telangiectasia, Hereditary Hemorrhagic/complications/genetics/pathology/radiography
Tomography, X-Ray Computed
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