Chronic Granulomatous Disease Colitis: A Therapeutic Approach to a Rare Condition

Abstract

Purpose: Introduction: Chronic Granulomatous Disease (CGD) refers to a group of inherited disorders in which phagocytes are deficient in the ability to generate reactive oxygen intermediates. This predisposes patients to recurrent infections and granuloma formation, commonly involving the gastrointestinal system. CGD colitis mimics Crohn's colitis, however, the treatment approaches are distinct given the concern of further immunosuppression in an immunocompromised patient. Case Description: We describe the case of a 15 year old male with CGD colitis and the systematic therapeutic approach to refractory disease including 5-ASA compounds, steroids, prophylactic trimethoprim-sulfamethoxazole, interferon gamma, and a sustained course of azathioprine. The use of azathioprine for 35 months, the longest course described in a patient with CGD colitis, led to a dramatic improvement in symptoms and endoscopic disease activity, without infectious complications. Discussion: The therapeutic approach to CGD colitis is not well described. We will review the literature on treatment modalities and suggest a systematic therapeutic approach for CGD colitis. Our case also supports the use of azathioprine as an agent to treat CGD colitis without the risk of infection described in other therapies although more research is needed.