Immunologic and Genetic Markets in Patients with Idiopathic Ocular Inflammation and a Family History of Inflammatory Bowel Disease

Purpose To evaluate the prevalence of immunologic and genetic markers in patients with idiopathic ocular inflammation and a family history of inflammatory bowel disease. Design Matched case-control study. Methods Patients with a diagnosis of idiopathic ocular inflammation and family history of inflammatory bowel disease who did not have inflammatory bowel disease themselves were identified and matched to control patients with idiopathic ocular inflammation. Serum was evaluated for immunologic markers using Prometheus IBD Serology 7. Genomic DNA was analyzed for single nucleotide polymorphisms (SNP) of the NOD2 gene associated with Crohn disease. Results Fifteen patients with idiopathic ocular inflammation and family history of inflammatory bowel disease were matched to 15 control patients based on age, sex, and race. Eight of 15 patients (53%) with a family history of inflammatory bowel disease had elevated p-ANCA antibody levels compared to 3 of 15 controls (20%) (1-sided P = .04) with a matched analysis odds ratio of 6.0 (1-sided P = .06). Four of 15 patients (27%) with family history of inflammatory bowel disease tested positive for immunologic markers predicting ulcerative colitis, while no control patients tested positive (1-sided P = .06). Carrier rates of NOD2 SNPs did not differ significantly between the test and control groups. Conclusions One-quarter of patients with idiopathic ocular inflammation and a family history of inflammatory bowel disease had immunologic markers predicting bowel disease, and one-half had elevated p-ANCA levels. Prometheus IBD Serology 7 may be useful in the evaluation of selected patients with unexplained uveitis. Ocular inflammation is seen in 6% to 14% of patients with inflammatory bowel disease. [1], [2] and [3] Ocular involvement can include conjunctivitis, keratitis, scleritis, episcleritis, uveitis, optic neuritis, and, less commonly, retinal vasculitis, [2] and [4] and can precede gastrointestinal disease.5 Uveitis is the most common ocular finding in patients with inflammatory bowel disease and is typically classified as chronic anterior uveitis.4 We have previously reported that the prevalence of a family history of inflammatory bowel disease is 3-fold to 15-fold higher in patients with ocular inflammation than in the general population.6 Additionally, 74% of these patients were HLA-B27-negative, suggesting that HLA-B27 is not an adequate diagnostic marker for patients with only a family history of inflammatory bowel disease and idiopathic uveitis.6 This study was conducted in order to identify immunologic markers specific to inflammatory bowel disease in a cohort of patients with idiopathic ocular inflammation and a family history of inflammatory bowel disease. Additionally, we assessed the presence or absence of single nucleotide polymorphisms (SNPs) in the NOD2 gene (also known as CARD15), which is known to be involved in the heritable aspect of Crohn disease