Hayalneh Gessessew, MD, Navila Sharif, MD, Thanita Thongtan, MD, Heba Iskandar, MD Emory University School of Medicine, Atlanta, GA Introduction: Solute carrier organic anion transporter family member 2A1 (SLCO2A1), is a membrane protein that mediates transport of prostaglandins and thromboxane in various tissues. Studies have shown that this transport plays essential roles in key response mechanisms within the body that impact necessary inflammatory and stress response. Thus, loss of function mutations in this mechanism can deter appropriate prostaglandin delivery to target tissue and subsequently lead to unregulated inflammation. Specifically, it can lead to nonspecific ulcerations within the lining of the intestines, vague rheumatologic symptoms and present as a diagnostic mystery. This case will focus on chronic enteropathy associated with SLCO2A1, initially misdiagnosed as Crohn’s disease.
Case Description/
Methods: This case describes a 30 year-old male initially diagnosed with fibro-stenosing small bowel Crohn's disease at age 15. Over the next few years, he underwent multiple small bowel resections due to repeat flares and obstruction. Pathology showed submucosal inflammation and fibrosis but no mucosal inflammation. He was trialed on several regimens including adalimumab, steroids, infliximab, and methotrexate with partial improvement. Imaging continued to show segmental small bowel wall thickening and associated luminal narrowing. Follow up endoscopy showed anastomotic stricture and small bowel biopsies again showed no active inflammation. During this period, the patient also demonstrated additional distinct features, including peau d'orange changes on the forehead, hypertrophic pulmonary osteoarthropathy involving the hands, fingers, and feet, as well as digital enlargement and skin thickening over the hands consistent with pachydermoperiostosis. Notably, the rheumatologic work-up was unremarkable. Ultimately, he underwent genetic evaluation. This revealed a pathogenic variant of SLCO2A1, associated with autosomal recessive hypertrophic osteoarthropathy type 2 and CEAS. He was started on COX-2 and PDE-4 inhibitors, while continuing infliximab and methotrexate. Patient responded well to this regimen, with Crohn’s now in remission, and latest scans without active disease. Discussion: This case outlines the inflammatory responses impacted by loss of function gene mutations of the SLCO2A1 transport mechanism. It also describes the possible treatment targets of COX-2 and PDE-4 inhibition on patients who suffer from prostaglandin dysfunction and chronic enteropathy associated with SLCO2A1.
Disclosures: Hayalneh Gessessew indicated no relevant financial relationships. Navila Sharif indicated no relevant financial relationships. Thanita Thongtan indicated no relevant financial relationships. Heba Iskandar indicated no relevant financial relationships.
Hayalneh Gessessew, MD, Navila Sharif, MD, Thanita Thongtan, MD, Heba Iskandar, MD. P5502 - Misdiagnosed as Crohn's: A Case Report of Chronic Enteropathy Associated With the SLCO2A1 Gene, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
