P0892 PRESENTING FEATURES OF COLITIS IN CHRONIC GRANULOMATOUS DISEASE PATIENTS IN THE UK AND IRELAND

Abstract

Introduction: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defective phagocytic cell oxidative burst, rendering patients suspectible to severe recurrent infections and chronic inflammatory process. The objective of this study was to describe the presenting features of colitis in CGD patients within the United Kingdom and Ireland. Methods: A national survey of CGD patients was undertaken. Consenting patients were identified and clinical data on epidemiology and morbidity was abstracted from their hospital notes. Results: 94 CGD patients were identified-68 (72%)with X-linked (XL) disease and 16 (17%) with Auto-recessive (AR) disease. Mode of inheritance was unknown (U) in 10 patients (11%).35 CGD patients (37%) had macroscopic or histological appearance of large bowel colitis-26 XL,7 AR, 2 U. Barium studies of the small bowel were normal in 21 of 23 patients, 1 patient having midileal abnormalities, the other a stricture in the terminal ileum. Symptoms at presentation: diarrhoea 74%, bloody stools 68%, abdominal pain 47%. In pathology reports, granulomas were reported in 63%, pigmented macrophages in 26% and eosinophilic infiltrate in 20%. 15 (43%)patients presented with colitis before being diagnosed with CGD- 11 XL,3 AR,1 U. Initial diagnosis was Crohns disease in 5 (33%) and Cows milk protein intolerance in 3 (20%). Mean age of presentation in this subgroup of 15 was 2.86 years in XL (range 0.1–7.1) and 8.93 years in AR (Range 5–14.1). Conclusion: CGD colitis is significant problem and often presents before CGD is diagnosed. There are no consistent pathognomnic features. It is primarily a large bowel disease. CGD should be considered in all children presenting with colitis. Assessment of the oxidative burst should be undertaken, particular in children under the age of 5 or with a unusual history of infections.