Hepatoma in a 40-year old male with hereditary hemochromatosis in the absence of cirrhosis. Implications of molecular diagnosis.

Hepatocarcinoma is a poor-prognosis complication of hereditary hemochromatosis (HH). It occurs with a frequency rate of 10-20%. It is usually diagnosed during the 6th or 7th decade of life, and it appears almost exclusively in association with liver cirrhosis or in the presence of other known risk factors such as HBV or HCV. We present a case of hepatocarcinoma in a 40-year-old male with a long history of ethanol abuse of more than 100 g/day. The patient was studied through familial HH screening, and firstly diagnosed of HH on the base of biochemical blood tests. Subsequently, a C282Y mutation--homozygous--was identified. Studies performed on the patient did not suggest liver cirrhosis. Serology for HBV and HCV was negative. Concurrently, the patient presented an isolated liver lesion of 4 cm in segment 6 of the right lobe. Imaging techniques suggested an hepatoma. A surgical resection of the tumor by right hepatectomy was performed. The diagnosis of HH, complicated by hepatoma, on a non-cirrhotic liver was confirmed. After 2 years of post-surgery follow-up, a period during which the patient underwent treatment including periodic phlebotomies, he remains asymptomatic and with no signs of tumor recurrence.