Chronic Diarrhea, Malabsorption, Villous Blunting, and Microscopy Colitis due to Common Variable Immunodeficiency Syndrome

Abstract

Introduction: While the most common diagnosis associated with chronic diarrhea and villous atrophy is celiac sprue, Common Variable Immunodeficiency (CVID) can also present similarly. Here we present a case of enteropathy with CVID that had been treated as refractory celiac disease. Case Report: A 42-year-old female with history of iron deficiency anemia, B12 deficiency and chronic diarrhea presented with intermittent abdominal cramping and watery diarrhea. Her symptoms dated back to age 18 after a trip to Indonesia. She was diagnosed with IBS and treated without improvement. Upper endoscopy at outside hospital initially showed mild villous blunting in duodenum consistent with celiac sprue. Gluten free diet was started, and she had minimal response after 2 years. Celiac panel later showed normal endomycial IgA and tissue transglutaminase IgA/IgG with low immunoglobulin A. Further evaluation showed hypogammaglobulinemia which was consistent with CVID. IVIG and Budesonide were started without improvement of her GI symptoms. Prednisone was subsequently started, which led to significant improvement of her GI symptoms. Colonoscopy showed increased intraepithelial hyperlymphocytosis and preserved crypt architecture consistent with lymphocytic colitis. Conclusion: CVID is a rare disease which can mimic GI symptoms and pathology of celiac disease. Although villous atrophy is present in both CVID and celiac disease, milder intraepithelial hyperlymphocytosis, lack of intestinal plasma cells and diffuse follicular lymphoid hyperplasia are more common in CVID. Microscopic colitis has also been reported in CVID enteropathy. This case suggests that it is important to consider alternative diagnosis such as CVID in patients labeled as refractory celiac disease.