A 70-year-old Woman with Asymptomatic Ferroportin Disease
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- Ishikawa Tetsuya
- Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Japan
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- Tatsumi Yasuaki
- Department of Medical Biochemistry, Faculty of Pharmaceutical Sciences, Toho University, Japan
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- Kato Koichi
- Department of Medicine, Aichi Gakuin University School of Pharmacy, Japan
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- Hayashi Yumi
- Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Japan
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- Imai Norihiro
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Japan
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- Ito Takanori
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Japan
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- Ishizu Youji
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Japan
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- Ishigami Masatoshi
- Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine, Japan
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- Nihei Wataru
- Department of Medicine, Aichi Gakuin University School of Pharmacy, Japan
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- Kato Ayako
- Department of Medicine, Aichi Gakuin University School of Pharmacy, Japan
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- Hayashi Hisao
- Department of Medicine, Aichi Gakuin University School of Pharmacy, Japan
Abstract
<p>A 59-year-old Japanese woman presented with hyperferritinemia. We decided against iron removal treatment because there were no symptoms or signs of iron-induced organ damage. A follow-up study revealed a gradual increase in transferrin saturation. The patient underwent a second examination at 66 years old. A liver biopsy showed substantial iron deposits in hepatocytes and Kupffer cells but no inflammation or fibrosis. Serum hepcidin-25 levels were highly parallel with hyperferritinemia. A genetic analysis revealed a G80S mutation in SLC40A1. These features are compatible with those of ferroportin disease. The patient remained asymptomatic at 70 years old, suggesting that the iron-loading condition may have been benign. </p>
Journal
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- Internal Medicine
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Internal Medicine advpub (0), 2024
The Japanese Society of Internal Medicine