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

doi:10.2169/internalmedicine.4756-20

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

Center for Endoscopy

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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 language	English
Pages (from-to)	3147-3154
Number of pages	8
Journal	Internal Medicine
Volume	59
Issue number	24
DOIs	https://doi.org/10.2169/internalmedicine.4756-20
Publication status	Published - 2020 Dec 15

Keywords

CEAS
Pachydermoperiostosis
SLCO2A1

ASJC Scopus subject areas

Internal Medicine

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10.2169/internalmedicine.4756-20

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title = "Chronic enteropathy associated with SLCO2A1 with pachydermoperiostosis",

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.",

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author = "Yoshikazu Tsuzuki and Ryutaro Aoyagi and Kazuya Miyaguchi and Keigo Ashitani and Hideki Ohgo and Minoru Yamaoka and Keisuke Ishizawa and Hidekazu Kayano and Tadakazu Hisamatsu and Junji Umeno and Naoki Hosoe and Takayuki Matsumoto and Hidetomo Nakamoto and Hiroyuki Imaeda",

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doi = "10.2169/internalmedicine.4756-20",

language = "English",

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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

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.

KW - CEAS

KW - Pachydermoperiostosis

KW - SLCO2A1

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Chronic enteropathy associated with SLCO2A1 with pachydermoperiostosis

Abstract

Keywords

ASJC Scopus subject areas

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