• Yoshikazu Tsuzuki, Ryutaro Aoyagi, Kazuya Miyaguchi, Keigo Ashitani, Hideki Ohgo, Minoru Yamaoka, Keisuke Ishizawa, Hidekazu Kayano, Tadakazu Hisamatsu, Junji Umeno, Naoki Hosoe, Takayuki Matsumoto, Hidetomo Nakamoto, and Hiroyuki Imaeda.
• Department of General Internal Medicine, Saitama Medical University, Japan.
• Intern. Med. 2020 Jan 1; 59 (24): 3147-3154.

AbstractA 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers were observed. A pathological examination indicated a small granuloma with CD68-positive histiocytes. He had a deeply wrinkled forehead, chiseled face, and clubbed fingers. Radiography revealed periostosis of the fingers and long bones in the limb. He was diagnosed with pachydermoperiostosis. SLCO2A1 demonstrated a c.1807C>T homo-mutation. He was also diagnosed with SLCO2A1-associated chronic enteropathy and thus was treated with 5-aminosalicylic acid, which temporarily improved the ileal ulcers, anemia, and hypoalbuminemia.

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