Chronic Enteropathy Associated With SLCO2A1 Gene Mutation; Initially Misdiagnosed as Fibrostenosing Crohn's Disease

ABSTRACT

Chronic enteropathy associated with SLCO2A1 (CEAS) is a rare condition that can mimic fibrostenosing Crohn's disease. We describe a young man with presumed Crohn's disease marked by recurrent bowel obstruction, multiple surgical resections, and poor response to standard therapies, with histopathology showing atypical findings. He developed systemic manifestations of CEAS, including pachydermoperiostosis (digital clubbing, periosteal new bone formation, and skin thickening) and hypertrophic osteoarthropathy. Subsequent genetic testing identified a pathogenic SLCO2A1 mutation. Treatment with COX-2 and PDE-4 inhibitors, combined with conventional therapy, reduced disease activity, underscoring the importance of recognizing atypical features and early genetic testing.