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.

Zusammenfassung

Das erhöhte Risiko für die Entstehung von hepatozellulären Karzinomen (HCC) bei Patienten mit hereditärer Hämochromatose (HH) ist weithin bekannt. Voraussetzung hierzu scheint das Vorliegen einer Leberzirrhose zu sein. Ob bei Patienten mit HH eine Eisenüberladung der Leber unabhängig von zirrhotischen Veränderungen bereits einen eigenen Risikofaktor für HCC darstellt, bleibt unklar. Bislang existieren nur wenige Fallberichte über HCC bei HH in nichtzirrhotischen Lebern. Wir berichten über einen 64-jährigen Mann, der sich zur Behandlung eines HCC in unserer onkologischen Tagesklinik vorstellte. Eine Leberzirrhose konnte ausgeschlossen werden. Eine ausführliche Anamnese erbrachte, dass er bis vor 15 Jahren über einen Zeitraum von etwa 10 Jahren mit Aderlässen behandelt worden war. Weiterführende Untersuchungen ergaben erhöhte Werte für Serum Ferritin und Transferrinsättigung. Die Diagnose einer HH konnte durch eine Genanalyse bestätigt werden. Der Patient wies eine Homozygotie für die Mutation in Position Cys282Tyr auf. Er wurde palliativ chemotherapiert und verstarb schließlich 15 Monate nach Diagnosestellung.

Hepatocellular carcinoma - hemochromatosis - liver cirrhosis - iron overload

Hepatozelluläres Karzinom - Hämochromatose - Leberzirrhose - Eisenüberladung

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