Endoscopically Evident Celiac Disease With Negative Pathology: A Case Report

Abstract

Introduction: Two criteria must be fulfilled for the diagnosis of celiac disease: Evidence of typical pathological changes of untreated disease in biopsies from the proximal small bowel and sufficient evidence that clinical and/or pathological changes are gluten-dependent. Pathological abnormalities of celiac disease include small bowel mucosal architectural abnormalities with both epithelial cell and lymphoid cell changes, including intraepithelial lymphocytosis. Although these findings are the characteristic of celiac disease, they are not specific due to other conditions may present with similar changes, thereby making celiac disease more difficult to diagnosis. We report a rare case of celiac disease with endoscopic and serology evidence but negative pathology. Case: 26 year-old female with past medical history of proctosigmoid ulcerative colitis treated with mesalamine who presented with diarrhea. Her mesalamine was changed to delayed-release mesalamine and scheduled for endoscopy. The endoscopy showed scalloping and patchy erythema in the second part of the duodenum. Biopsies were obtained with cold biopsy forceps in the 1st and 2nd duodenum. Pathology revealed fragments of benign small intestinal mucosa with no villous atrophy or intraepithelial lymphocytosis. Given the endoscopic findings, a celiac serology was obtained and showed a high titer of endomysial antibody IgA and tissue transglutaminase antibody IgA. Therefore, the patient was diagnosed with endoscopic and serologic celiac disease with negative pathology. She was started on a gluten-free diet with improvement in her symptoms. Discussion: Celiac disease has common and uncommon presentations. Physicians should be aware many important aspects of celiac disease including presentations, endoscopic changes, biopsy preparation and handling, classical celiac disease on pathology, occult and latent celiac disease, other causes of small bowel changes that may mimic celiac disease. This case represents a rare pathology negative celiac disease.