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J. Abbasian, T. Martin, M. Kesen, D. A. Goldstein; Immunologic and Genetic Markers in Patients With Idiopathic Intraocular Inflammation and a Family History of Inflammatory Bowel Disease. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3781. doi: https://doi.org/.
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We have previously reported that patients with idiopathic uveitis are more likely than the general population to have a family history of inflammatory bowel disease(IBD). The aim of this study was to identify relevant immunologic and genetic markers in these patients.
Prospective case control study including patients encountered in the University of Illinois at Chicago Uveitis clinic between January 1, 2000 and December 1, 2009. Study patients included patients with idiopathic uveitis and a family history of Crohn’s disease or ulcerative colitis who do not have IBD themselves. Controls consisted of patients with idiopathic ocular inflammation without a family or personal history of IBD. Participating patients provided approximately 50 mL of peripheral venous blood drawn by standard phlebotomy techniques. Serum was evaluated using the Prometheus IBD serology (San Diego, CA) including the following immunologic markers: ASCA IgA, ASCA IgG, Anti-OmpC IgA, Anti-CBir1, and IBD-specific pANCA ELISA. Genetic studies preformed at Oregon Health Sciences University (Portland, OR) evaluated the following IBD genetic markers: P268S, R702W, G908R, and 1007fs.
Fifteen patients with a history of inflammatory bowel disease, without personal history of IBD, were included in this study. Controls were age and race matched within 5 years of chronological age. Immunologic studies revealed 4/15 (27%) of patients with a family history of IBD testing positive for inflammatory bowel disease predictability based on the above Prometheus antibody panel. In contrast, no age matched controls tested positive. Genetic markers tested did not reveal positivity in the study group in comparison with control population that reached statistical significance.
Patients with a family history of inflammatory bowel disease may express anti-intestinal antibody without exhibiting intestinal manifestations of IBD. This may indicate a low level of antibody capable of manifesting uveitic disease without overt intestinal disease possibly providing another etiology for idiopathic inflammatory disease. However, the absence of these antibodies in almost 75% of our study patients suggests that other factors are likely also responsible for the development of uveitis in this sub group of patients.
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