非特異性多発性小腸潰瘍症(CEAS)の病態と特徴

Translated title of the contribution: Clinicopathologic features of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with SLCO2A1 gene)

Junji Umeno, Motohiro Esaki, Takayuki Matsumoto

Research output: Contribution to journalArticlepeer-review

Abstract

Chronic nonspecific multiple ulcers of the small intestine is a rare disease characterized by multiple small intestinal ulcers of nonspecific histology. Recent research revealed that the disease is caused by recessive mutations of the SLCO2A1 gene encoding a prostaglandin transporter, and a new nomenclature “chronic enteropathy associated with SLCO2A1 gene (CEAS)” was proposed. CEAS occurs predominantly in females and most patients have iron deficiency anemia without gross hematochezia. This condition shows a relatively low inflammation status. The disease causes the development of multiple intestinal lesions predominantly in the ileum except the terminal ileum, and those lesions are characterized by shallow circular or oblique ulcers with asymmetrical deformity. Genetic analysis of the SLCO2A1 gene should be considered only when CEAS is suspected based on the clinical course and endoscopic and radiographic findings of the intestinal lesions. The presence of upper gastrointestinal lesions and extraintestinal manifestations such as digital clubbing, pachydermia, and periostosis can be helpful for differential diagnosis.

Translated title of the contributionClinicopathologic features of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with SLCO2A1 gene)
Original languageJapanese
Pages (from-to)1457-1466
Number of pages10
JournalGASTROENTEROLOGICAL ENDOSCOPY
Volume62
Issue number8
DOIs
Publication statusPublished - Aug 2020

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging
  • Gastroenterology

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