Objective. Chronic granulomatous disease (CGD) is a rare disorder of phagocyte oxidative metabolism. In addition to infectious complications, granulomatous lesions often involve hollow viscera, especially the gastrointestinal (GI) tract. The objective of this study was to evaluate the clinical presentation, prevalence, and consequences of GI involvement in patients with CGD.

Methods. The medical records of 140 patients with CGD (67% X-linked) followed at the National Institutes of Health were reviewed and abstracted for GI manifestations. All available GI pathology was reviewed.

Results. GI involvement was recorded in 46 (32.8%) of 140 patients with CGD, 89% of whom had X-linked inheritance. The median age at the time of initial GI manifestations was 5 years (range: 0.8–30 years); 70% of the affected patients presented with GI involvement in the first decade of life. Abdominal pain was the most frequent symptom (100%), and hypoalbuminemia was the most frequent sign (70%). Prednisone controlled symptoms and signs in the majority of affected patients, but relapse of symptoms occurred in 71%. GI involvement had no effect on mortality and was unassociated with interferon-γ use.

Conclusion. GI involvement is a common and recurring problem in CGD, especially in those with X-linked inheritance. Currently, there is no clear evidence for an infectious cause. The frequency of GI involvement is unaffected by the use of interferon-γ and does not affect mortality. GI involvement should be sought in patients who have CGD with abdominal pain, growth delay, or hypoalbuminemia.

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