Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis

Intern Med. 2020;59(24):3147-3154. doi: 10.2169/internalmedicine.4756-20. Epub 2020 Dec 15.


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.

Keywords: CEAS; SLCO2A1; pachydermoperiostosis.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Inflammatory Bowel Diseases*
  • Male
  • Middle Aged
  • Mutation
  • Organic Anion Transporters* / genetics
  • Osteoarthropathy, Primary Hypertrophic* / diagnosis
  • Osteoarthropathy, Primary Hypertrophic* / genetics
  • Ulcer


  • Organic Anion Transporters
  • SLCO2A1 protein, human