Raya Alashram, MD, Ahmad Abulawi, MD, Seth Richter, MD, FACG, Joseph Polito, MD Albany Medical Center, Albany, NY Introduction: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations in the NADPH oxidase complex, with an incidence of approximately 1 in 250,000 individuals. Although CGD typically presents in childhood, adult-onset cases occur and can mimic inflammatory bowel disease (IBD). Notably, IBD affects nearly one-third of patients with CGD. Differentiating CGD-associated colitis from Crohn’s disease or ulcerative colitis is diagnostically challenging but crucial, as treatment strategies differ significantly.
Case Description/
Methods: A 46-year-old male presented with chronic diarrhea and was diagnosed with ulcerative colitis. After failing budesonide, colonoscopy revealed granulomas, and Crohn’s disease was diagnosed. He improved on adalimumab but later developed fevers and weight loss. Imaging showed hepatic abscesses growing MSSA. Despite IV cefazolin and drainage, fevers persisted. Recurrent infections raised concern for CGD, confirmed by oxidative burst testing. Prednisone led to rapid improvement, and he was started on prophylactic antibiotics and antifungals. GI symptoms recurred during steroid taper. Colonoscopy showed patchy colitis and granulomas. Vedolizumab was initiated for suspected CGD-IBD. After two doses, he developed severe abdominal pain and high-output diarrhea. Imaging showed worsening hepatic abscesses. Biologic therapy was stopped, abscesses drained, and antibiotics restarted, leading to clinical improvement. HSCT is now being considered with hematology. Discussion:
This case highlights the challenge of distinguishing CGD colitis from Crohn’s disease in adults. Key signs like persistent fever, granulomas, and recurrent liver abscesses should raise suspicion for CGD. Early diagnosis is critical to avoid harmful immunosuppression. While corticosteroids may help, relapse is common, and biologics increase infection risk. Hepatic abscesses need antibiotics and drainage. Hematopoietic stem cell transplantation (HSCT) is the only cure and should be considered for severe cases. Effective management requires a multidisciplinary approach to balance infection control with inflammation treatment.
Disclosures: Raya Alashram indicated no relevant financial relationships. Ahmad Abulawi indicated no relevant financial relationships. Seth Richter indicated no relevant financial relationships. Joseph Polito indicated no relevant financial relationships.
Raya Alashram, MD, Ahmad Abulawi, MD, Seth Richter, MD, FACG, Joseph Polito, MD. P3366 - Granulomas, Gut, and Granulocyte Dysfunction: Adult Onset CGD Masquerading as Crohn’s, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
