You are here

  • Home
  • Archive
  • Volume 5, Issue 1
  • A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review

Article Text

Article menu

Download PDFPDF

XML
Case report
A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review
  1. Xi Sun1,2,
  2. Naoki Hosoe1,
  3. Ryoichi Miyanaga3,
  4. Kayoko Kimura1,
  5. Shinta Mizuno3,
  6. Kaoru Takabayashi1,
  7. Makoto Naganuma3,
  8. Hironori Niizeki4,
  9. Atsuhito Seki5,
  10. Haruhiko Ogata1,
  11. Takanori Kanai3
  1. 1 Center for Diagnostic and Therapeutic Endoscopy, School of Medicine, Keio University, Tokyo, Japan
  2. 2 Department of Gastroenterology and Hepatology, Chinese PLA General Hospital, Beijing, China
  3. 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan
  4. 4 Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan
  5. 5 Division of Orthopedics, National Center for Child Health and Development, Tokyo, Japan
  1. Correspondence to Dr Naoki Hosoe; nhosoe{at}keio.jp

Abstract

Objective To further disseminate the nomenclature of chronic enteropathy associated with SLCO2A1 (CEAS), especially for physicians in China and Korea where the genetic feature of SLCO2A1 gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied. SLCO2A1 gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied.

Design A case report with literature review of SLCO2A1 gene mutations-related disorders.

Results A 38-year-old Korean presented to a tertiary hospital with dizziness, abdominal pain and melena. He had a positive faecal occult blood test on initial workup. Oesophagogastroduodenal endoscopy (OGD), colonoscopy and CT scan were unremarkable and showed no obvious cause for his melena. Capsule endoscope and roentgen barium studies were performed, revealing an erythematous mucosa with ulcers in the jejunum and stenosis to the jejunal–ileal junction. Next-generation sequencing was then performed and discovered point mutations of SLCO2A1 gene’s seven exon (940+1 G>A) and 13 exon (1807 C>T) allele. This Korean patient with CEAS is the first documented case noted outside of the Japanese population.

Conclusion CEAS is not uniquely found in Japanese individuals. There are lots of similarities between CEAS and primary hypertrophic osteoarthropathy, the two entity may just be the two sides of one same coin. International and multidisciplined efforts are required to further study this complicated disorder.

  • enteropathy
  • gene mutation
  • enteroscopy
  • small bowel disease

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0

https://doi.org/10.1136/bmjgast-2018-000223

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors XS and NH wrote the paper. RM and KK performed capsule endoscopy. SM, KT and MN performed enteroscopy. HN examined skin lesion. AS examined X-ray films. HO and TK edited the paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.