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Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience
Author(s) -
Angelino Giulia,
De Angelis Paola,
Faraci Simona,
Rea Francesca,
Romeo Erminia Francesca,
Torroni Filippo,
Tambucci Renato,
Claps Alessia,
Francalanci Paola,
Chiriaco Maria,
Di Matteo Gigliola,
Cancrini Caterina,
Palma Paolo,
D'Argenio Patrizia,
Dall'Oglio Luigi,
Rossi Paolo,
Finocchi Andrea
Publication year - 2017
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/pai.12814
Subject(s) - medicine , chronic granulomatous disease , azathioprine , inflammatory bowel disease , disease , primary immunodeficiency , surgery , dermatology , immunology
Background Chronic granulomatous disease ( CGD ) is a primary immunodeficiency of phagocytes, characterized by life‐threatening infections and hyperinflammation. Due to survival improvement, inflammatory bowel disease ( IBD ) is becoming increasingly relevant. Here, we report our 20 year experience. Methods We retrospectively analyzed clinic, endoscopic, and histologic features, as well as the management of CGD ‐ IBD patients referred to the Bambino Gesù Children's Hospital in Rome, Italy. Results Of 20 patients with CGD , 9 presented with CGD ‐ IBD at diagnosis and/or during follow‐up. Symptoms occurred at a median age of 16 years (range 3.2‐42), with a median delay of 6 months for endoscopic confirmation. Patients mainly complained of nonspecific diarrhea (55%), with discrepancy between symptom paucity and severe endoscopic appearance, mainly represented by extensive colonic involvement (44%). Histology revealed at least 2 characteristic features (epithelioid granulomas, pigmented macrophages, and increased eosinophils) in 78% of patients. Eight of 9 patients received oral mesalamine, and 5 required systemic steroids. One patient received azathioprine due to steroid dependence. No patient required biological therapy or surgery. Clinical remission was obtained in all patients, but the majority complained of mild relapses. Two episodes of severe infection occurred early after steroid therapy. Conclusions Penetrance of CGD ‐ IBD increases with age. Clinical manifestations may be subtle, and clinicians should have a low threshold to recommend endoscopy. Treatment with NSAID s and/or steroids achieves a good response, but relapses usually occur. Infection surveillance is mandatory during treatment, to prevent opportunistic infections. A close collaboration between pediatric immunologists and gastroenterologists is pivotal, including combined follow‐up.