Development of Hepatocellular Carcinoma in an Adult Patient with Alagille Syndrome

Yuichi Masuda, Shiro Miwa, Keiko Natori, Yusuke Miyagawa, Kenta Yokoi, Fumitaka Suzuki, Takahide Yokoyama, Akira Kobayashi, Shinichi Miyagawa and Eiji Tanaka*

Department of Surgery and Department of Gastroenterology and Hepatology*, Shinshu University School of Medicine

Alagille syndrome (AGS), an inherited disorder with autosomal dominant transmission, presents as liver disease, typical facial evidence, and cardiovascular abnormalities. Liver disease is caused by paucity or hypoplasia of the intrahepatic bile ducts. We report a 49-year-old Japanese man suffering from hepatocellular carcinoma (HCC) who was diagnosed with AGS. At 10 year of age, he had been admitted to Shinshu University Hospital to evaluate liver dysfunction and a heart murmur. Histologically, partial paucity of the interlobular bile ducts was evident-findings all consistent with AGS. At the age of 49, the man was found in ultrasonography to have a liver tumor and referred to for partial hepatic resection, enjoying an uneventful postoperative clinical course. The resected liver specimen weighed 712 g and contained a tumor 12 cm in diameter. Microscopic examination showed the tumor to be moderately differentiated HCC. A bile duct was seen in each portal tract. No features suggestive of hepatitis or cirrhosis were seen. Eleven cases of HCC were reported in the English literature between 1975 and 2007, as complications of AGS. Six patients with HCC had underlying liver disease such as cirrhosis, fibrosis, or cholestasis. Adult AGS patients without evidence of advanced liver diseases appear to be rarely associated with HCC development.

Key words
alagille syndrome, hepatocellular caricinoma, intrahapatic bile duct

Reprint requests
Yuichi Masuda Department of Surgery, Shinshu University School of Medicine
3-1-1 Asahi, Matsumoto, 390-8621 JAPAN

Accepted
March 26, 2008

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