TY - JOUR
T1 - Chronic enteropathy associated with SLCO2A1 with pachydermoperiostosis
AU - Tsuzuki, Yoshikazu
AU - Aoyagi, Ryutaro
AU - Miyaguchi, Kazuya
AU - Ashitani, Keigo
AU - Ohgo, Hideki
AU - Yamaoka, Minoru
AU - Ishizawa, Keisuke
AU - Kayano, Hidekazu
AU - Hisamatsu, Tadakazu
AU - Umeno, Junji
AU - Hosoe, Naoki
AU - Matsumoto, Takayuki
AU - Nakamoto, Hidetomo
AU - Imaeda, Hiroyuki
N1 - Publisher Copyright:
© 2020 The Japanese Society of Internal Medicine.
PY - 2020/12/15
Y1 - 2020/12/15
N2 - 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.
AB - 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.
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U2 - 10.2169/internalmedicine.4756-20
DO - 10.2169/internalmedicine.4756-20
M3 - Article
C2 - 33328413
AN - SCOPUS:85097997141
SN - 0918-2918
VL - 59
SP - 3147
EP - 3154
JO - Internal Medicine
JF - Internal Medicine
IS - 24
ER -