Ulcerative colitis associated with chronic granulomatous disease: case report

Area of Science:

• Immunology
• Gastroenterology
• Genetics

Background:

• Chronic Granulomatous Disease (CGD) is a primary immunodeficiency affecting neutrophil function, leading to increased susceptibility to bacterial and fungal infections.
• CGD is genetically heterogeneous, with X-linked and autosomal recessive forms, often presenting with recurrent infections, lymphadenitis, and abscesses.
• Gastrointestinal involvement, including obstruction and inflammatory bowel disease, is recognized in CGD, particularly the X-linked form, and can mimic Crohn's disease.

Observation:

• Gastrointestinal symptoms are common in CGD, but ulcerative colitis is rarely reported in affected individuals.
• The case presented here involves a patient with Chronic Granulomatous Disease who exhibited symptoms consistent with ulcerative colitis.
• Distinguishing CGD-related GI issues from other inflammatory bowel diseases like Crohn's can be challenging due to overlapping features such as luminal narrowing and granuloma formation.

Findings:

• This case report documents an unusual presentation of Chronic Granulomatous Disease with ulcerative colitis.
• The findings suggest that ulcerative colitis, though rare, can be a manifestation of CGD.
• The presence of granulomas in GI biopsies can complicate differential diagnosis between CGD and other inflammatory bowel diseases.

Implications:

• This case expands the spectrum of known gastrointestinal manifestations in Chronic Granulomatous Disease.
• Recognizing ulcerative colitis as a potential feature of CGD is crucial for timely diagnosis and appropriate management.
• Further research may elucidate the underlying mechanisms connecting CGD and ulcerative colitis, potentially improving diagnostic strategies for both conditions.