Hepatocarcinoma with tumor thrombus occupying the right atrium and portal vein in a patient with hereditary hemochromatosis and liver cirrhosis

Abstract

We present the case of a 46-year old patient with Child-Pugh class C cirrhosis with MEDL-Score 16, and hepatocellular carcinoma invading the inferior vena cava and the right atrium. The etiology of cirrhosis is type 1 hereditary hemochromatosis with positive HFE C282Y/C282Y and H63D/H63D mutations. A systematic review of the literature was performed and only 30 cases of hepatocellular carcinoma with tumor thrombosis extending into the right atrium have been described. To our knowledge, this is the first case that evidences the presence in hereditary hemochromatosis of hepatocellular carcinoma with atypical invasion into the right atrium. Screening of patients with a family history of hereditary hemochromatosis allows detection of the disease in the asymptomatic phase, allowing initiation of early therapy and improved prognosis.