Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience

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Abstract

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 NSAIDs 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.

Original languageEnglish
Pages (from-to)801-809
Number of pages9
JournalPediatric Allergy and Immunology
Volume28
Issue number8
DOIs
Publication statusPublished - Dec 1 2017

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Chronic Granulomatous Disease
Inflammatory Bowel Diseases
Steroids
Infection
Mesalamine
Recurrence
Biological Therapy
Penetrance
Opportunistic Infections
Azathioprine
Non-Steroidal Anti-Inflammatory Agents
Phagocytes
Granuloma
Eosinophils
Italy
Endoscopy
Diarrhea
Histology
Therapeutics
Macrophages

Keywords

  • digestive endoscopy
  • granulomatous colitis
  • primary immunodeficiency
  • very-early-onset IBD (VEO IBD)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Allergy
  • Immunology

Cite this

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title = "Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience",
abstract = "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 Ges{\`u} 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 NSAIDs 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.",
keywords = "digestive endoscopy, granulomatous colitis, primary immunodeficiency, very-early-onset IBD (VEO IBD)",
author = "Giulia Angelino and {De Angelis}, Paola and Simona Faraci and Francesca Rea and Romeo, {Erminia Francesca} and Filippo Torroni and Renato Tambucci and Alessia Claps and Paola Francalanci and Maria Chiriaco and {Di Matteo}, Gigliola and Caterina Cancrini and Paolo Palma and Patrizia D'Argenio and Luigi Dall'Oglio and Paolo Rossi and Andrea Finocchi",
year = "2017",
month = "12",
day = "1",
doi = "10.1111/pai.12814",
language = "English",
volume = "28",
pages = "801--809",
journal = "Pediatric Allergy and Immunology",
issn = "0905-6157",
publisher = "Blackwell Munksgaard",
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TY - JOUR

T1 - Inflammatory bowel disease in chronic granulomatous disease

T2 - An emerging problem over a twenty years' experience

AU - Angelino, Giulia

AU - De Angelis, Paola

AU - Faraci, Simona

AU - Rea, Francesca

AU - Romeo, Erminia Francesca

AU - Torroni, Filippo

AU - Tambucci, Renato

AU - Claps, Alessia

AU - Francalanci, Paola

AU - Chiriaco, Maria

AU - Di Matteo, Gigliola

AU - Cancrini, Caterina

AU - Palma, Paolo

AU - D'Argenio, Patrizia

AU - Dall'Oglio, Luigi

AU - Rossi, Paolo

AU - Finocchi, Andrea

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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 NSAIDs 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.

AB - 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 NSAIDs 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.

KW - digestive endoscopy

KW - granulomatous colitis

KW - primary immunodeficiency

KW - very-early-onset IBD (VEO IBD)

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