PATHOLOGY RESEARCH AND PRAGICE © Urban & Fischer Verlag http://www.urbanfischer.de/journalslprp Hepatocellular Carcinoma in a Patient with Hereditary Hemochromatosis and Noncirrhotic Liver. A Case Report Heinz-Hermann Kohler'. Thomas Hohler'. Ulla KOse1 3 , Charles James Kirkpatrick' and Peter Schirrnacher' 'Institute of Pathology, 2First Department of Internal Medicine, -Department of Transplantation Surgery, Johannes-Gutenberg-University, Mainz, Germany Summary A case of a 62-year-old patient with hereditary hemo- chromatosis is reported, who developed hepatocellular carcinoma (HCC) in the absence of cirrhosis and other potential risk factors for HCC. Occurrence of HCC in patients with genetic hemochromatosis and noncirrhot- ic liver is a rare event which has previously been de- scribed only six times and appears to be limited to male patients. Key words: Hepatocellular carcinoma - Hereditary hemachromatosis - Noncirrhotic liver Introduction Hereditary hemochromatosis (HH) is an autosomal recessive disease leading to an inappropriate increase in intestinal iron absorption with consecutive accumula- tion in, and eventual damage of, the organs involved, affecting especially the liver, pancreas, heart and pitu- itary gland. Life expectancy in patients with hereditary hemo- chromatosis is mainly reduced by the occurrence of liver cirrhosis, diabetes mellitus and hepatocellular car- cinoma [19, 21]. Cirrhotic patients with genetic hemo- chromatosis have an increased risk of developing pri- mary hepatocellular carcinoma that is estimated to be 120-200 times higher than that in age- and sex-matched controls [3, 8, 19,21]. In contrast, noncirrhotic patients have a normal life expectancy if iron deposits can be successfully removed in the early course of the disease [19-21]. Clinical medicine therefore aims at detecting Pathol. Res. Pract. 195: 509-513 (1999) HH in the precirrhotic stage to prevent the serious com- plications mentioned above. To date, noncirrhotic patients with hereditary hemo- chromatosis have not been reported to display an in- creased risk of hepatocellular carcinoma [2,19,21]. Up to now, only 6 cases of hepatocellular carcinoma in HH-patients without cirrhosis have been described [2, 8, 11}. The patient presented below represents another well-documented case of primary liver cancer in precir- rhotic primary hemochromatosis in the absence of other potential risk factors. Case History A 63-year-old patient with a 15-year history of clini- cally documented hereditary hemochromatosis was ad- mitted to the hospital for evaluation of a liver mass which has been detected on routine sonography while the patient was hospitalized in a psychiatric clinic. Pre- viously, venesection was performed at inadequately ir- regular intervals due to low compliance of the patient. Insulin-dependent diabetes mellitus was diagnosed five years before admittance to the hospital. The initial liver biopsy performed outside confirmed the suspected di- agnosis of a hepatocellular carcinoma, and the sur- rounding liver parenchyma showed moderate fibrosis. No signs of grossly impaired synthetic function of the liver were described. Address for correspondence: Dr. Heinz-Hermann Kohler, Institut fur Pathologie, Johannes-Gutenberg-Universitat Mainz, Langenbeckstr. 1, D- 55131 Mainz, Germany, Tel.: ++49 (0) 6131-175066, Fax: ++49 (0) 6131-17 66 04 0344-0338/99/19sn-S09 $12.00/0