Experimental Biology 2010: Hepatocellular Carcinoma In A Non Cirrhotic Patient With Primary Hemochromatosis Without Evidence Of Iron Overload

Purpose of Study: Hemochromatosis has also been associated with an increased risk of hepatocellular carcinoma (HCC) especially when iron overload and cirrhosis are present. We report a patient with well controlled hemochromatosis developing HCC in the absence of cirrhosis, iron overload and viral hepatitis but with a history of exposure to atomic bomb radiation.

Methods Used: Case
A 70 year old Caucasian man with a 35 year history of hemochromatosis presented to his MD for his regular phlebotomy complaining of right upper quadrant discomfort for one month. An ultrasound showed a liver mass. A CT-guided biopsy showed an adenocarcinoma of liver and the patient was referred to our center for further care. Additional history included hypothyroidism, hypertension, gout and hypercholesterolemia. His hemochromatosis was well controlled with frequent phlebotomies and ferritin monitoring, never requiring iron chelation. He denied smoking and alcohol use. As a soldier in the 1950s he was assigned to observe an atomic bomb explosion in the Johnson Islands without protection against radiation.

Physical Examination: No stigmata of liver disease. Mild tenderness in the right upper quadrant. No splenomegaly.

Laboratory: a-fetoprotein: 46.2ng/ml, HBV viral DNA negative, hemoglobin 14.5 g/dl, Iron 31mcg/dl. Total iron binding capcacity 193mcg/dl, Percent saturation 16%, ferritin 247.6mcg/l, homozygous for C282Y hemochromatosis gene, AST 305u/l, ALT 312u/l, ALP 34u/l and total bilirubin 0.6. CT of thorax abdomen and pelvis showed no metastasis.

Histopathology: On gross inspection liver looked normal with no nodularity .Microscopy showed differentiated adenocarcinoma with non-extensive portal fibrosis without iron deposition.

Summary of Results: Death from Hemochromatosis is 219 times likely due to HCC . However occurrence of HCC in the absence of cirrhosis is very rare. Our case represents the fifth reported case of HCC developing in hemochromatosis in the absence of cirrhosis and iron overload in the English literature.

Conclusions: We feel that clinicians following such patients should have a low threshold for ordering ultrasound on onset of symptoms or clinical deterioration of liver function.