Gastrointestinal manifestations of chronic granulomatous disease

Chronic granulomatous disease is a rare clinical entity characterized by recurrent infective and inflammatory complications. Patients are usually assigned to specialist centres, but nonspecialist clinicians may be required to treat these patients in the emergency setting. This review serves as a management guide to those clinicians who are faced with patients presenting with gastrointestinal manifestations of chronic granulomatous disease.

This review is based on a literature search (Medline and NLM PubMed) with manual cross-referencing of all articles related to gastrointestinal chronic granulomatous disease.

Gastrointestinal tract involvement is present in most affected patients. Clinical presentation can mimic common surgical complications such as colitis, perianal sepsis, gastric outlet obstruction and liver abscess. A history of recurrent infections during childhood is common. Management involves haematological, microbiological, endoscopic and radiological investigations. Treatment modalities include early aggressive empirical antimicrobial therapy for sepsis, immunomodulation for inflammatory complications and surgical drainage of abscesses.

Early involvement of a centre with immunological expertise combined with aggressive management of complications significantly improves morbidity and mortality from this rare condition.