Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]—Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn’s Disease

Abstract

Small intestinal ulcers include mucosal damage caused by drugs, particularly nonsteroidal anti-inflammatory drugs [NSAIDs], infectious diseases, and idiopathic inflammatory bowel disease. Previously, a group of Japanese investigators reported an unusual and uncommon type of enteritis and referred to the condition as chronic nonspecific multiple ulcers of the small intestine [CNSU]. CNSU is characterised by chronic blood and protein loss through persistent small intestinal ulcers. Recently, four candidate mutations in the solute carrier organic anion transporter family, member 2A1 [SLCO2A1] gene, encoding a prostaglandin transporter, were identified by whole-exome sequencing in patients with CNSU. However, because the name 'CNSU' was somewhat ambiguous, the more appropriate nomenclature of 'chronic enteropathy associated with the SLCO2A1 gene' [CEAS] has been suggested. CEAS ulcers are characterised by multiple, circular or eccentric oblique, shallow lesions with discrete margins. The most frequently affected site of CEAS is the ileum, in contrast to 'cryptogenic multifocal ulcerous stenosing enteritis [CMUSE]', for which the most frequent site is the jejunum. Impaired prostaglandin utilisation is thought to cause the small intestinal mucosal damage observed in CEAS, CMUSE, and NSAID-induced enteropathy. This review article focuses on endoscopic and clinical features of genetically diagnosed CEAS, accumulated in a nationwide survey, and illustrates the observations in the format of an atlas.

Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn’s disease

“…2a). The lesions occurred asymmetrically and independently of the mesenteric side and were endoscopically recognized as shallow ulcers with or without luminal narrowing, as reported previously [6, 12]. Ulcerative lesions varied in shape, being circular, oblique, or longitudinal, and ulcers occasionally formed a pseudodiverticulum (Fig.…”

Successful azathioprine treatment in an adolescent with chronic enteropathy associated with SLCO2A1 gene

“…Subsequent reports stress distinction between CEAS and Crohn disease. [ 3 , 4 ] Agents used in chronic enteropathies such as inflammatory bowel disease, including 5-aminosalicylic acid, corticosteroids, azathioprine, and antitumor necrosis factor-α antibody, often are ineffective in CEAS, which frequently requires surgery. [ 1 – 4 ]…”

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with <i>SLCO2A1</i>-associated Primary Hypertrophic Osteoarthropathy

“…The endoscopic findings of CEAS are characterized by multiple circular, longitudinal, or oblique shallow ulcers with discrete margins in the ileum (except for the terminal ileum), which resemble Crohn's disease or intestinal tuberculosis (3,6).…”

“…However, some patients with advanced disease develop abdominal pain with intestinal stenosis and require repeated surgeries (2). Because the appearance of ileal ulcers in patients with CEAS sometimes resembles that of Crohn's disease (CD) or intestinal tuberculosis, it is sometimes difficult to distinguish CEAS from them (3)(4)(5)(6). Umeno et al reported that CEAS is a hereditary disease caused by mutations in the SLCO2A1 gene (1,7).…”