Gastrointestinal Abnormalities among Patients with Chronic Granulomatous Disease

Abstract

Objective: Chronic granulomatous disease (CGD) is characterized by increased susceptibility to infections and inflammation that may lead to various gastrointestinal (GI) abnormalities. Our objective was to better characterize the GI manifestations among patients suffering from CGD as well as the effects of different treatments. Methods:We analyzed 11 patients with CGD managed by the immunology service at the Hospital for Sick Children, Toronto, Ontario between 2000 and 2012.Results: All patients had one or more GI abnormality including colitis (72.7%), peri-anal fissure/abscess (36.3%) or oral aphthous ulcers (36.3%). Failure to thrive occurred in 5 patients (45.4%), all with associated colitis. Bone marrow transplantations (BMT) using HLA-identical sibling donors were performed in 4 patients, with 3 patients surviving. In these 3 patients, the inflammation-mediated GI manifestations present before BMT resolved during the follow-up period of 3.2-4.6 years. In contrast, 6 of 7 patients who did not receive BMT (p=0.033) continued to suffer from GI disease resulting in failure to thrive, GI bleeding and life threatening small bowel perforation and often required immune suppressive medications. Conclusions:Inflammatory GI manifestations, particularly colitis, are very common in CGD and are often associated with significant morbidity. Allogeneic BMT, particularly if an HLA-matched sibling donor is available should be considered in patients with CGD who suffer from significant GI involvement.