Abstract
BACKGROUND: Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency disorder. Patients with CVID are reported to have a significant burden of infectious and inflammatory gastrointestinal (GI) diseases. AIMS: This study aims to characterize the incidence and clinical profile of GI pathology in a cohort of CVID patients. METHODS: We conducted a retrospective cohort study of all CVID patients followed at an tertiary care hospital between January 2005 and July 2017. Using a standardized data collection tool, we performed chart reviews to identify CVID patients with GI complaints, infections and medication use, as well as patients undergoing endoscopic investigations. Patients with inflammatory bowel disease (IBD) were identified. Baseline demographic and clinical characteristics relating to CVID stage and treatment were also collected. RESULTS: A total of 106 patients were identified and included in the final analyses. Mean age at study inclusion was 52.8 (standard deviation, SD = 14.8), mean age at CVID diagnosis was 38.7 (SD = 16.0 years) and 43/106 (40.6%) were male. Mean IgG level was 9.0 (SD = 3.6 g/L). Most patients (98.1%) were on IVIG replacement therapy, and 56/106 (52.8%) were on chronic steroid therapy. GI symptoms (abdominal pain, change in bowel habits, or weight loss), were reported by 67/106 (63.2%) patients. GI infections were encountered as follows: C. difficile infection in 4 (3.8%), chronic giardiasis in 14 (13.2%), bacterial enterocolitis in 8 (7.5%), CMV colitis in 3 (2.8%) and H. pylori infection in 4 (3.8%). Proton pump inhibitor use was reported by 29.2% of patients and exposure to an antibiotic to treat a GI-related infection was reported by 37.7% of patients. Seven patients (6.6%) had elevated transaminases. Colonoscopy was performed in 52 (49.1%) patients. Of those, 27 (51.9%) had an inflammatory colitis based on either endoscopic or histologic abnormalities. Based on a standardised review of endoscopic and histologic reports, we classified the disease phenotype as follows: 9 (8.5%) with Crohn disease, 2 (1.9%) with ulcerative colitis, 11 (10.4%) with indeterminate colitis, and 5 (4.7%) with microscopic colitis. CONCLUSIONS: Patients with CVID have a significant burden of both infectious and inflammatory GI pathology. Clinical and demographic predictors of developing significant GI pathology have not been identified. Further studies are needed to delineate predictors and outcomes of GI pathology in this patient population. FUNDING AGENCIES: None