CLINICOPATHOLOGIC FEATURES OF CHRONIC NONSPECIFIC MULTIPLE ULCERS OF THE SMALL INTESTINE (CHRONIC ENTEROPATHY ASSOCIATED WITH SLCO2A1 GENE)

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.