Chronic Enteropathy Associated with SLCO2A1 Gene

Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare hereditary disorder characterized by multiple small intestinal ulcers, chronic anemia, and hypoproteinemia. Initially reported by Okabe et al. [J Jpn Soc Gastroenterol. 1968;65:1114-7] in 1968 as chronic nonspecific multiple ulcers of the small intestine, the condition was later identified as a genetic disorder caused by mutations in the SLCO2A1 gene, which encodes a prostaglandin (PG) transporter. Unlike typical autosomal recessive disorders, CEAS predominantly affects females and is frequently present with extraintestinal manifestations such as digital clubbing, pachydermia, and periostosis.

This review provides a comprehensive summary of the epidemiology, pathogenesis, clinical features, diagnostic criteria, and management of CEAS, with an emphasis on newly established diagnostic protocols in Japan. CEAS is characterized by multiple shallow circumferential or oblique ulcers in the small intestine, often resembling NSAID-induced enteropathy. Laboratory findings typically include iron deficiency anemia and hypoproteinemia, while urinary PG metabolite levels are significantly elevated. Genetic testing for SLCO2A1 mutations, particularly the c.940 + 1G>A splice site mutation, confirms the diagnosis. While symptomatic management with enteral nutrition, iron supplementation, blood transfusions, and albumin infusion is the mainstay of therapy, definitive treatments remain unavailable. Endoscopic balloon dilation may be useful in cases of intestinal strictures, but surgical intervention is frequently required.

(i) CEAS should be considered in cases of chronic iron deficiency anemia and hypoproteinemia with unexplained small intestinal ulcers. (ii) Genetic testing for SLCO2A1 mutations, combined with assessment of small intestinal morphology, is essential for accurate diagnosis. (iii) Current treatment options are limited to symptomatic management and surgical intervention, highlighting the need for further research to develop effective therapies.