D2.367 - Hepatic Involvement and Inflammatory Bowel Disease in Chronic Granulomatous Disease: A Retrospective Evaluation

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by defective NADPH oxidase activity, leading to recurrent infections and inflammatory complications. This study aims to evaluate hepatic involvement and inflammatory bowel disease (IBD) in CGD patients followed at a tertiary center.

Medical records of CGD patients monitored at Hacettepe University between 1984 and 2025 were retrospectively reviewed. Demographic features, hepatic and gastrointestinal findings, laboratory parameters, genetic mutations, treatments, and outcomes were analyzed.

Eighty patients were included; hepatic involvement was present in 52.5%, most commonly hepatomegaly (42.5%), hepatic abscess (13.8%), and steatosis (19.1%). Hepatic abscesses were more frequent among deceased patients, showing a near-significant association with mortality (p = 0.073).  IBD was identified in 8.8% of patients, all with autosomal recessive form of CGD. Diarrhea was universally present among IBD cases. Hematopoietic stem cell transplantation (HSCT)  was performed in 20 patients. Two patients who had undergone HSCT had findings consistent with IBD. In one patient, IBD manifestations persisted after HSCT. The other patient did not undergo a post-transplant follow-up colonoscopy; however, no clinical signs of IBD were observed. 

Hepatic and gastrointestinal involvement significantly contributes to CGD morbidity. Although not statistically significant, the trend toward higher mortality in patients with hepatic abscesses suggests a potential prognostic role requiring close clinical monitoring. These findings reinforce the heterogeneous and inflammatory nature of CGD and support the importance of early recognition and individualized treatment strategies.