A 57-year-old man had been detected to have an elevated
transaminase level. He had a history of alcohol consumption, and abdominal ultrasonography revealed an increase in the echogenicity of the liver;hence, he was diagnosed as having
alcoholic liver disease. He restricted his alcohol intake, but the elevated
transaminase level did not improve. Further medical examination was performed. He was found to have
hyperferritinemia (serum
ferritin, 6574ng/mL) and high
transferrin saturation (TSAT, 90.5%). Computed tomography (CT) revealed high CT values of the liver and spleen (94 and 84HU, respectively). These findings differed from the characteristics of a typical
alcoholic liver disease. Liver biopsy revealed
iron deposition within the hepatocytes and Kupffer cells and
liver fibrosis (F1-2). From the gene analysis of HFE, HJV, TFR2, HAMP, and SLC40A1 genes, he was heterozygous for the G>A (G490D) mutation in the
ferroportin gene (SLC40A1). He was diagnosed as having
ferroportin disease. It was reported that patients with a G490D mutation exhibited
ferroportin disease A, which occurs owing to a loss-of-function mutation of SLC40A1. However, he was considered to have some characteristics of
ferroportin disease B, which occurs owing to a gain-of-function mutation of SLC40A1. In this case, alcohol consumption might affect the progression of
iron deposition in the liver. Therapeutic venesection was performed, and his
hyperferritinemia with high TSAT gradually improved. In the course of the disease, other organ damages and progression of
liver fibrosis did not occur.