Chronic Enteropathy Associated With SLCO2A1 Gene Mutation; Initially Misdiagnosed as Fibrostenosing Crohn's Disease
5 affiliations
- 1Department of Internal Medicine, Emory University School of Medicine, Atlanta, GA
- 2Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University School of Medicine, Atlanta, GA
- 3Department of Medicine, Vanderbilt University Medical Center, Nashville, TN
- 4Department of Medicine & Rheumatology, Emory University, Atlanta, GA
- 5Department of Digestive Diseases, Emory University, Atlanta, GA
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.
Related
- Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)
- Vedolizumab treatment in adults with immunodeficiency-associated enteropathy: a case series
- Beyond inflammation: exploring CAR-based cell therapy for fibrostenosing Crohn’s disease
- Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.
- A premature ovarian insufficiency-associated LMD-3 point mutation impairs protein stability and causes autophagic-lysosomal dysfunction in Caenorhabditis elegans
BibTeX
@article{gessessew2026chronic,
title = {{Chronic Enteropathy Associated With SLCO2A1 Gene Mutation; Initially Misdiagnosed as Fibrostenosing Crohn's Disease}},
author = {Hayalneh Gessessew and David Qin and Navila Sharif and Prateek Gandiga and Heba Iskandar},
journal = {ACG case reports journal},
year = {2026},
month = oct,
doi = {10.14309/crj.0000000000002388},
url = {https://europepmc.org/article/PMC/PMC13722499},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Chronic Enteropathy Associated With SLCO2A1 Gene Mutation; Initially Misdiagnosed as Fibrostenosing Crohn's Disease
AU - Hayalneh Gessessew
AU - David Qin
AU - Navila Sharif
AU - Prateek Gandiga
AU - Heba Iskandar
PY - 2026
DA - 2026/10/30
JO - ACG case reports journal
DO - 10.14309/crj.0000000000002388
UR - https://europepmc.org/article/PMC/PMC13722499
AB - 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.
SN - 2326-3253
ER -