Atypical presentation of celiac disease with ascites and hypoalbuminemia mimicking malignancy

Abstract

Celiac disease is an autoimmune disorder of the small intestine that usually presents with gastrointestinal symptoms; however, atypical extraintestinal manifestations can occur, making diagnosis challenging. We report a unique case of celiac disease presenting with generalized edema, ascites, and elevated CA-125 levels, closely simulating an underlying malignancy. Imaging revealed diffuse ascites and mesenteric lymphadenopathy without the typical intestinal features of celiac disease. The diagnosis was ultimately confirmed by serology and small bowel biopsy. This case underscores the diagnostic challenge of atypical presentations and highlights the importance of early recognition. Celiac disease should be considered in the differential diagnosis of unexplained ascites with elevated CA-125 to avoid unnecessary oncologic workup and delayed treatment.