Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease

OBJECTIVES: Patients with chronic granulomatous disease (CGD), a rare congenital disorder characterized by defective neutrophil function, frequently develop an inflammatory bowel disease similar to Crohn's disease. The clinical presentations and concordance between the features of the bowel disease in these two conditions have never been formally evaluated. METHODS: Retrospective case note analysis of all adult patients with CGD treated at a tertiary care hospital. RESULTS: A total of 25 eligible patients were identified. Of these, 14 (56%) had experienced gastrointestinal symptoms in the preceding 3 years; and 11 (44%) had documented gastrointestinal inflammation not secondary to infection, manifesting throughout the alimentary canal including the upper gastrointestinal tract (45%), small intestine (27%), colon (73%), and rectum (73%). All had discontinuous inflammation and perianal involvement, and approximately half (55%) demonstrated epithelioid granulomata on histology. All patients fulfilled the Lennard-Jones criteria for the diagnosis of Crohn's disease. Therapeutic responses were observed in five patients to 5-aminosalicylates, and in individual patients to thalidomide, interferon-gamma, azathioprine, infliximab, and intestinal resection. CONCLUSIONS: There are striking clinical and pathological resemblances between the bowel diseases observed in CGD and Crohn's disease, supporting the possibility of mechanistic similarities in their pathogenesis. Patients with CGD appear particularly prone to developing perianal disease.