Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis

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...

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Veröffentlicht in:Internal Medicine 2020/12/15, Vol.59(24), pp.3147-3154
Hauptverfasser: Tsuzuki, Yoshikazu, Aoyagi, Ryutaro, Miyaguchi, Kazuya, Ashitani, Keigo, Ohgo, Hideki, Yamaoka, Minoru, Ishizawa, Keisuke, Kayano, Hidekazu, Hisamatsu, Tadakazu, Umeno, Junji, Hosoe, Naoki, Matsumoto, Takayuki, Nakamoto, Hidetomo, Imaeda, Hiroyuki
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Sprache:eng
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Zusammenfassung: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.4756-20