Occasional discomfort in ...

A 34-year-old man was presented to the hospital due to occasional discomfort in the liver for nine months. The patient felt fatigued and had no significant medical history. He smokes and occasionally drinks. In the laboratory tests, liver function showed that aspartate aminotransferase and alanine aminotransferase were elevated. The iron metabolism showed that the serum iron was 23.4 μ mol/L, total iron-binding capacity was 47.2 μ mol/L, ferritin was 12,405.0 μ g/L, and transferrin saturation was 50%. No abnormal findings in other laboratory tests. Echocardiography showed mild tricuspid regurgitation.

Contrast-enhanced MRI of the liver and spleen showed enlarged spleen and extensive and uniform decrease of the signal in liver and spleen as shown in the figure. Liver biopsy showed phagocytic Kupffer cell infiltration, expanded portal area, fibrous tissue proliferation, and a few inflammatory cell’s infiltrations. Iron staining was positive, as shown in the figure and copper staining was negative. A sequencing test was performed. The mutation of the gene leads to autosomal dominant inheritance. The patient was heterozygote for the mutation. Based on all the above results, the diagnosis was made.