COLITIS IS COMMON IN CGD

Abstract

99 Chronic Granulomatosis Disease (CGD) is due to abnormality of NADPH oxidase in variety of cells and tissues, which are inherited as either an X-linked or an autosomal recessive trait. Gastrointestinal involvement (GI) has been rarely described though abnormal cells are present in the gut. We have studied the colon of 7 consecutively presenting patients with CGD, five boys and two girls, who were diagnosed, from birth or up to 30 months of age. 2 had an autosomal variant and 5 were x-linked. They presented with anemia 7/7, failure to thrive 6/7, recurrent diarrhoea 5/7, bloody stools 3/7, constipation 1/7. The time between presentation and investigation of GI was 3 months to 5 ½ years. Colonoscopy showed a patchy erythema thoughout the colon with occasional ulceration. Colonic biopsies revealed in all patients a patchy pancolitis with irregular, flat epithelium, crypt distortion, reduction in their number, cryptitis and crypt abscesses. The lamina propria showed an increase in degranulating eosinophils and eosinophilic pigmented macrophages. The number of histocytes was augmented, sometimes forming loose granulomas. Granulomas were found only in the older patients. The vascular endothelium appeared plump and eosinophils could be seen trafficking through the vessel wall. In contrast eosinophils did not traffic through the surface epithelium. Staining with BODIPY-phalloidin demonstrated a disorganized sheath of f-actin around the crypts, with modification of their shape. The colitis in CGD is described as a rare finding, however in our study 7/7 patients had histopathological changes present in the colon and were anaemic. Although previously described as Crohn-like our findings suggest that in CGD there are specific histological hallmarks present. We suggest that colitis occurs in most if not all patients with CGD and that evaluation of the gastrointestinal tract should be part of the routine investigation of such children.