Hepatocellular carcinoma associated with hereditary hemochromatosis occurring in non-cirrhotic liver

Z Gastroenterol. 2006 Jan;44(1):39-42. doi: 10.1055/s-2005-858567.

Abstract

The occurrence of primary hepatocellular carcinoma (HCC) in patients with hereditary hemochromatosis (HH) is well known. Thereby, the development of liver cirrhosis seems to be a prerequisite. Whether or not a hepatic iron overload in the context of hereditary hemochromatosis is an independent risk factor for HCC remains unclear. To date there are only a few reports about HCC arising in non-cirrhotic livers in the presence of HH. We report the case of a 64-year-old man who presented to our outpatient clinic with HCC. Liver cirrhosis could be excluded. Detailed exploration of the patient's history revealed that he had been treated by venesection for about 10 years up to 15 years ago. Subsequent investigations showed an elevated serum ferritin and transferrin saturation. The diagnosis of HH was confirmed by genetic testing, with homozygosity for the Cys282Tyr mutation. The patient received palliative chemotherapy and finally died 15 months after initial diagnosis of HCC.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Hepatocellular / complications
  • Carcinoma, Hepatocellular / diagnosis*
  • Carcinoma, Hepatocellular / therapy
  • Hemochromatosis / complications
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics*
  • Hemochromatosis / therapy
  • Humans
  • Liver Cirrhosis / complications
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / therapy
  • Liver Neoplasms / complications
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / therapy
  • Male
  • Middle Aged
  • Palliative Care