Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings

• Published in: Clinical and molecular hepatology 2011, 17(4), , pp.313-318
• Main Authors: Lee, Joo Ho, Lee, Yung Sang, Kim, Pyo Nyun, Lee, Beom Hee, Kim, Gu Whan, Yoo, Han Wook, Heo, Nae Yun, Lim, Young Suk, Lee, Han Chu, Chung, Young Hwa, Suh, Dong Jin
• Format: Article
• Language: English
• Subjects: Activin Receptors, Type II - genetics; Aged; Angiography; Carcinoma, Hepatocellular - complications; Carcinoma, Hepatocellular - therapy; Case Report; Chemoembolization; Chemoembolization, Therapeutic; Chromosomes; Epistaxis; Exons; Family medical history; Gene Deletion; Genes; Growth factors; Hepatitis B; Humans; Hyperplasia; Hypertension; Ischemia; Kinases; Liver cancer; Liver Neoplasms - complications; Liver Neoplasms - therapy; Liver transplants; Male; Mutation; Patients; Telangiectasia, Hereditary Hemorrhagic - complications; Telangiectasia, Hereditary Hemorrhagic - diagnostic imaging; Telangiectasia, Hereditary Hemorrhagic - genetics; Telangiectasia, Hereditary Hemorrhagic - pathology; Tomography, X-Ray Computed; Veins & arteries; 내과학
• ISSN: 1738-222X; 2287-2728; 2093-8047; 2287-285X
• DOI: 10.3350/kjhep.2011.17.4.313

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-β, which plays an important role in the formation of vascular endothelia. 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.