Chronic enteropathy associated with SLCO2A1 with pachydermoperiostosis

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, Hiroyuki Imaeda

Research output: Contribution to journalArticlepeer-review

Abstract

A 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.

Original languageEnglish
Pages (from-to)3147-3154
Number of pages8
JournalInternal Medicine
Volume59
Issue number24
DOIs
Publication statusPublished - Dec 15 2020

All Science Journal Classification (ASJC) codes

  • Internal Medicine

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