Is it Celiac Disease or CVID-Associated “Celiac-Like Disease”?

Abstract

Common Variable Immunodeficiency (CVID) is the most common primary immunodeficiency in adults. Gastrointestinal (GI) symptoms are common in CVID patients, and up to 50% of patients have chronic diarrhea with malabsorption. CVID is commonly associated with intestinal villous atrophy mimicking Celiac Disease (CD). The prevalence of true CD in CVID remains unknown. We present a case of gluten-free diet (GFD) responsive CD in a patient with CVID. A 67 year old Caucasian female with long standing history of CVID on IgG replacement therapy, chronic kidney disease, and severe iron deficiency presented for evaluation of persistent nausea, anorexia, weight loss and non-healing chronic leg ulcer. She underwent EGD after initial anti tissue transglutaminase (anti-TTG) was found to be 17 U/mL, which showed marked villous blunting and mild lymphocytic infiltration with inflammatory pathology. Enteral access was obtained for nutritional supplementation in a setting of ongoing weight loss. An EGD 1 month after high fidelity enteral GFD showed resolution of inflammatory changes and improvement in villous blunting. (Table 1) The ensuing 3 months of strict diet adherence resulted in removal of the feeding tube with resolution of anorexia and nausea, as well as a 35 pound weight gain with return to healthy baseline weight. A dramatic improvement in her chronic leg wound was observed that had previously been resistant to all therapies. Anti-TTG levels at 4 month mark improved to 8 U/mL. Common variable immunodeficiency (CVID) with an estimated prevalence of 1/100,000 to 1/50,000 is the most common symptomatic primary antibody deficient syndrome. Up to 50% of CVID patients have chronic diarrhea with malabsorption. CVID is commonly associated with intestinal villous atrophy mimicking Celiac Disease (CD). Due to unreliable antibody testing and inconsistent response to GFD making a diagnosis of CD in CVID remains a challenge. Based on a few recent studies, the only criterion to confirm CD in CVID population is histological response to GFD. Our patient had significant improvement in symptoms and showed a histological response with GFD. CVID and CD can co-exist, hence a high level of clinical suspicion is warranted to diagnose CD in the CVID population.Table: Table. Sequential Duodenal Bulb Biopsies