[A case of ferroportin disease with phenotype A gene mutation in SCL40A1 resembling phenotype B manifestation influenced by alcohol consumption]

Nihon Shokakibyo Gakkai Zasshi. 2020;117(12):1100-1108. doi: 10.11405/nisshoshi.117.1100.
[Article in Japanese]


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.

Publication types

  • Case Reports

MeSH terms

  • Alcohol Drinking
  • Cation Transport Proteins
  • Humans
  • Iron Overload* / genetics
  • Male
  • Middle Aged
  • Mutation
  • Phenotype


  • Cation Transport Proteins
  • metal transporting protein 1