Invited Review
Overlap, Common Features, and Essential Differences in Pediatric Granulomatous Inflammatory Bowel Disease
Gerard M Damen,
J Han van Krieken,
Esther Hoppenreijs, Erim van Os, Jules JM Tolboom, Adillia Warris, Jan-Bart Yntema, Edward ES Nieuwenhuis,
Johanna C Escher,
Corresponding Author
Gerard M Damen
Department of Paediatrics, The Netherlands
Address correspondence and reprint requests to Gerard Damen, MD, PhD, Paediatric Gastroenterologist, Department of Paediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands (e-mail: [email protected]).Search for more papers by this authorJ Han van Krieken
Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Search for more papers by this authorEdward ES Nieuwenhuis
Department of Paediatrics, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorJohanna C Escher
Department of Paediatrics, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorGerard M Damen,
J Han van Krieken,
Esther Hoppenreijs, Erim van Os, Jules JM Tolboom, Adillia Warris, Jan-Bart Yntema, Edward ES Nieuwenhuis,
Johanna C Escher,
Corresponding Author
Gerard M Damen
Department of Paediatrics, The Netherlands
Address correspondence and reprint requests to Gerard Damen, MD, PhD, Paediatric Gastroenterologist, Department of Paediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands (e-mail: [email protected]).Search for more papers by this authorJ Han van Krieken
Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Search for more papers by this authorEdward ES Nieuwenhuis
Department of Paediatrics, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorJohanna C Escher
Department of Paediatrics, Erasmus MC/Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorThe authors report no conflicts of interest.
ABSTRACT
Overlap in the clinical presentation of pediatric granulomatous inflammatory bowel disease may be substantial, depending on the mode of presentation. Chronic granulomatous disease (CGD) may present with granulomatous colitis, perianal abscesses, hepatic abscesses or granulomas, failure to thrive, and obstruction of the gastrointestinal tract (including esophageal strictures and dysmotility, delayed gastric emptying, and small bowel obstruction). Anemia, thrombocytosis, elevated C-reactive protein and erythrocyte sedimentation rate, and hypoalbuminemia are nonspecific and may occur in any of the granulomatous inflammatory bowel diseases. In histology, macrophages with cytoplasmic inclusions will be rather specific for CGD. Sarcoidosis may present with abdominal pain or discomfort, diarrhea, weight loss, growth failure, delayed puberty, erythema nodosum, arthritis, uveitis, and hepatic granulomata. Only in 55% of the patients will angiotensin-converting enzyme be elevated. The noncaseating epithelioid granulomata will be unspecific. Bronchoalveolar lymphocytosis and abnormalities in pulmonary function are reported in sarcoidosis and in Crohn disease (CD) and CGD. Importantly, patients with CD may present with granulomatous lung disease, fibrosing alveolitis, and drug-induced pneumonitis. Sarcoidosis and concomitant gastrointestinal CD have been reported in patients, as well as coexistence of CD and sarcoidosis in siblings. Common susceptibility loci have been identified in CD and sarcoidosis. CD and CGD share defects in the defense mechanisms against different microbes. In the present review, common features and essential differences are discussed in clinical presentation and diagnostics—including histology—in CGD, sarcoidosis, and CD, together with 2 other granulomatous inflammatory bowel diseases, namely abdominal tuberculosis and Hermansky-Pudlak syndrome. Instructions for specific diagnosis and respective treatments are provided.
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