title: Hepatocellular carcinoma associated with hereditary hemochromatosis occurring in non-cirrhotic liver.
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.
authors.affiliation: Department of Internal Medicine II, Technical University of Munich, Klinikum rechts der Isar, Munich, Germany. stefan_ruckert@yahoo.de
authors.forename: S
authors.initials: S
authors.lastname: von Delius
authors.forename: C
authors.initials: C
authors.lastname: Lersch
authors.forename: E
authors.initials: E
authors.lastname: Schulte-Frohlinde
authors.forename: F
authors.initials: F
authors.lastname: Fend
authors.forename: M
authors.initials: M
authors.lastname: Dobritz
authors.forename: R M
authors.initials: RM
authors.lastname: Schmid
authors.forename: F
authors.initials: F
authors.lastname: Eckel
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D008113:Liver Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010166:Palliative Care