P1.050. Esophageal Ulceration in Suspected Gastrointestinal Behçet Disease: A Diagnostic Challenge

Abstract

Abstract Topic Benign Disease: Other Case Submission Background Gastrointestinal involvement in Behçet disease most commonly affects the ileocecal region, whereas esophageal involvement is rare. When present, esophageal lesions typically involve the mid-esophagus and present with dysphagia or substernal chest pain. The rarity and non-specific histopathological features of esophageal involvement make diagnosis particularly challenging. Methods A 42-year-old man presented with chest pain and odynophagia as the primary complaints, accompanied by recurrent oral ulcers and an unintentional 10-kg weight loss over one year. He denied genital ulcers, ocular involvement, skin lesions, arthritis, fever, or recent medication use. Upper gastrointestinal endoscopy was performed as the initial investigation, followed by colonoscopy, histopathological evaluation, and laboratory testing to investigate the etiology of esophageal ulceration. Results The upper gastrointestinal endoscopy examination showed a 6.0 x 2.0-cm, longitudinal esophageal ulcer with irregular border in the mid-third of the esophagus, correlating with the patient’s symptoms. Histopathological examination of esophageal biopsies showed non-specific inflammatory changes without granulomas, dysplasia, or viral inclusions. Given the atypical endoscopic appearance and non-specific histology, an extended diagnostic workup was undertaken. Laboratory investigations showed mildly elevated inflammatory markers. Serological testing for human immunodeficiency virus, herpes simplex virus, and cytomegalovirus was negative. Epstein–Barr virus serology demonstrated positive IgG. In light of this finding, EBER in situ hybridization was performed on esophageal biopsy specimens and demonstrated no evidence of tissue-invasive Epstein–Barr virus infection. To evaluate for inflammatory bowel disease, fecal calprotectin was measured and found to be 53.8 μg/g. Colonoscopy with systematic segmental biopsies revealed shallow rectal ulcers without histological features consistent with Crohn disease. Tuberculosis was also considered in the differential diagnosis; however, interferon-gamma release assay was negative, and contrast-enhanced chest computed tomography showed no pulmonary or mediastinal abnormalities. The presence of a symptomatic mid-esophageal ulcer, recurrent oral ulcers, and exclusion of common infectious, inflammatory, and malignant etiologies raised suspicion for a systemic inflammatory process, including possible gastrointestinal Behçet disease. Although a diagnostic trial of systemic corticosteroids was planned after exclusion of infectious and malignant causes, the patient was subsequently lost to follow-up, precluding assessment of treatment response. Conclusions This case illustrates the diagnostic and therapeutic challenges posed by unexplained esophageal ulceration with non-specific histology. It underscores the importance of a multidisciplinary approach in evaluating rare inflammatory causes of esophageal disease and in guiding management decisions when diagnostic certainty is limited.