A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): Case report with literature review

Xi Sun, Naoki Hosoe, Ryoichi Miyanaga, Kayoko Hukuhara, Shinta Mizuno, Kaoru Takabayashi, Makoto Naganuma, Hironori Niizeki, Atsuhito Seki, Haruhiko Ogata, Takanori Kanai

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Article numbere000223
JournalBMJ Open Gastroenterology
Volume5
Issue number1
DOIs
Publication statusPublished - 2018 Jan 1

Fingerprint

Melena
Mutation
Genes
Exons
Capsule Endoscopes
Primary Hypertrophic Osteoarthropathy
Occult Blood
Numismatics
Hematologic Tests
Dizziness
Jejunum
Barium
Colonoscopy
Korea
Point Mutation
Terminology
Tertiary Care Centers
Abdominal Pain
Endoscopy
Ulcer

Keywords

  • enteropathy
  • enteroscopy
  • gene mutation
  • small bowel disease

ASJC Scopus subject areas

  • Gastroenterology

Cite this

A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS) : Case report with literature review. / Sun, Xi; Hosoe, Naoki; Miyanaga, Ryoichi; Hukuhara, Kayoko; Mizuno, Shinta; Takabayashi, Kaoru; Naganuma, Makoto; Niizeki, Hironori; Seki, Atsuhito; Ogata, Haruhiko; Kanai, Takanori.

In: BMJ Open Gastroenterology, Vol. 5, No. 1, e000223, 01.01.2018.

Research output: Contribution to journalArticle

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