Hemochromatotic liver and magnetic resonance imaging (MRI)

A 63-year-old man, with no personal or hereditary family history of medical significance, consulted for liver cirrhosis. He had a serum ferritin > 1500 ng/ml, iron level 76 µg/dl, transferrin level 198 µg/dl, transferrin saturation index 38%. Antibodies for hepatitis A, B, and C viruses and human immunodeficiency virus were negative. On magnetic resonance imaging (MRI), the liver, with irregular borders, was decreased in size; the caudate lobe was normal. In spin-echo and T2-weighted sequences to assess iron overload, a diffuse decrease in signal ("black liver") was found, suggestive of high-grade iron deposits. The spleen was normal; there were multiple images of a serpiginous path compatible with splenic varices (arrowhead) and free fluid in the abdominal cavity. Genomic analysis revealed a heterozygous trait for the H63D gene. These findings were interpreted as consistent with hereditary hemochromatosis.