Pitfalls in Diagnosis of Early-Onset Inflammatory Bowel Disease

Abstract

Aim The onset of inflammatory bowel disease (IBD) in patients younger than the age of 5 years is rare. Moreover, when there is exclusive colonic inflammation, diagnosis can be challenging. Our aim was to describe the difficulties and pitfalls in the diagnosis of early-onset IBD (eoIBD) and their repercussions in treatment decisions.

Patients and Methods Patients with eoIBD (Crohn's disease [CD], ulcerative, and unclassified colitis) treated at our center between 1990 and 2016 were studied retrospectively. Demographic, clinical, medical, and surgical treatment data were analyzed.

Results A total of 19 patients were diagnosed with eoIBD at 21 (1–46) months of age. Bloody diarrhea, growth failure, and abdominal pain were present in 90, 42, and 16%, respectively. After 9 (1–62) months from the onset, patients were classified as ulcerative colitis (nine), CD (two), and unclassified colitis (eight). Unresponsiveness to medical treatment was observed in 10 and prompted surgical assessment. A partial colectomy was performed in one, and nine underwent a total colectomy (one end stoma and eight ileoanal anastomosis [IAA]). At least one surgical complication occurred in 80% and ultimately six patients with an IAA required an end stoma. Overtime, final diagnosis of 5 out of the 10 surgical patients changed due to biopsy findings, unresponsiveness to medical treatment, or extraintestinal and perianal manifestations. After a 12-year (1–22) follow-up, 57.9% of the diagnoses of all patients were modified.

Conclusion EoIBD poses a challenge due to ambiguous presentation and absence of specific diagnostic tests. Surgical evaluation is often needed and surgeons must be mindful of possible initial misdiagnosis, in addition to short- and long-term outcomes before deciding aggressive surgical measures as well as intestinal reconstruction.

Keywords

inflammatory bowel disease - early onset - surgical assessment - ulcerative colitis - Crohn's disease

• References

• 1 Penninck E, Fumery M, Armengol-Debeir L. , et al; EPIMAD Group. Postoperative complications in pediatric inflammatory bowel disease: a population-based study. Inflamm Bowel Dis 2016; 22 (01) 127-133
• 2 Gower-Rousseau C, Vasseur F, Fumery M. , et al. Epidemiology of inflammatory bowel diseases: new insights from a French population-based registry (EPIMAD). Dig Liver Dis 2013; 45 (02) 89-94
• 3 Benchimol EI, Fortinsky KJ, Gozdyra P, Van den Heuvel M, Van Limbergen J, Griffiths AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis 2011; 17 (01) 423-439
• 4 Ruel J, Ruane D, Mehandru S, Gower-Rousseau C, Colombel JF. IBD across the age spectrum: is it the same disease?. Nat Rev Gastroenterol Hepatol 2014; 11 (02) 88-98
• 5 Baillie CT, Smith JA. Surgical strategies in paediatric inflammatory bowel disease. World J Gastroenterol 2015; 21 (20) 6101-6116
• 6 Van Limbergen J, Russell RK, Drummond HE. , et al. Definition of phenotypic characteristics of childhood-onset inflammatory bowel disease. Gastroenterology 2008; 135 (04) 1114-1122
• 7 Mezoff EA, Dykes DM. The changing face of very early-onset inflammatory bowel disease. J Pediatr 2015; 167 (03) 508-509
• 8 Moran CJ, Klein C, Muise AM, Snapper SB. Very early-onset inflammatory bowel disease: gaining insight through focused discovery. Inflamm Bowel Dis 2015; 21 (05) 1166-1175
• 9 Rosen MJ, Dhawan A, Saeed SA. Inflammatory bowel disease in children and adolescents. JAMA Pediatr 2015; 169 (11) 1053-1060
• 10 Oliva-Hemker M, Hutfless S, Al Kazzi ES. , et al. Clinical presentation and five-year therapeutic management of very early-onset inflammatory bowel disease in a large North American cohort. J Pediatr 2015; 167 (03) 527-32.e1 , 3
• 11 Bousvaros A, Antonioli DA, Colletti RB. , et al; North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition; Colitis Foundation of America. Differentiating ulcerative colitis from Crohn disease in children and young adults: report of a working group of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the Crohn's and Colitis Foundation of America. J Pediatr Gastroenterol Nutr 2007; 44 (05) 653-674
• 12 Sánchez-Galán A, Andres AM, Fernández-Caamaño B. , et al. Ulcerative ileitis after proctocolectomy in children: a complication of ulcerative colitis or a disease in itself after ileoanal pullthrough?. Eur J Pediatr Surg 2015; 25 (01) 51-55
• 13 Abraham BP, Mehta S, El-Serag HB. Natural history of pediatric-onset inflammatory bowel disease: a systematic review. J Clin Gastroenterol 2012; 46 (07) 581-589
• 14 Heyman MB, Kirschner BS, Gold BD. , et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr 2005; 146 (01) 35-40
• 15 Mamula P, Telega GW, Markowitz JE. , et al. Inflammatory bowel disease in children 5 years of age and younger. Am J Gastroenterol 2002; 97 (08) 2005-2010
• 16 Abdullah BA, Gupta SK, Croffie JM. , et al. The role of esophagogastroduodenoscopy in the initial evaluation of childhood inflammatory bowel disease: a 7-year study. J Pediatr Gastroenterol Nutr 2002; 35 (05) 636-640
• 17 Ruuska T, Vaajalahti P, Arajärvi P, Mäki M. Prospective evaluation of upper gastrointestinal mucosal lesions in children with ulcerative colitis and Crohn's disease. J Pediatr Gastroenterol Nutr 1994; 19 (02) 181-186
• 18 Tobin JM, Sinha B, Ramani P, Saleh AR, Murphy MS. Upper gastrointestinal mucosal disease in pediatric Crohn disease and ulcerative colitis: a blinded, controlled study. J Pediatr Gastroenterol Nutr 2001; 32 (04) 443-448
• 19 Malaty HM, Abraham BP, Mehta S, Garnett EA, Ferry GD. The natural history of ulcerative colitis in a pediatric population: a follow-up population-based cohort study. Clin Exp Gastroenterol 2013; 6: 77-83
• 20 Gower-Rousseau C, Dauchet L, Vernier-Massouille G. , et al. The natural history of pediatric ulcerative colitis: a population-based cohort study. Am J Gastroenterol 2009; 104 (08) 2080-2088
• 21 Smith NP, Ba'ath ME, Perry D, Morgan LE, Lamont GL, Baillie CT. BAPS UK inflammatory bowel disease surgical practice survey. J Pediatr Surg 2007; 42 (02) 296-299