Diagnostic delay in very early-onset inflammatory bowel disease: A tertiary single-center retrospective study

Abstract

Background: Very early-onset inflammatory bowel disease (VEO-IBD) may have an aggressive clinical course. Upon suspicion, an immediate transfer to a pediatric gastroenterology clinic should be made, considering that diagnostic delay (DD) in referral can have profound implications. Objectives: The objectives of the study are to investigate the time, proportion, and factors associated with DD in VEO-IBD and explore the symptoms at initial presentation. Methods: An observational, retrospective, single-center study of consecutive patients with VEO-IBD confirmed by histopathology was conducted. We measured the time to diagnosis-the interval between symptom onset and the final VEO-IBD diagnosis. DD was defined as the time to diagnosis that exceeded the 75 ^th percentile. Results: Twenty-five children with VEO-IBD-16 with ulcerative colitis (UC) and 9 with Crohn’s disease (CD)-were evaluated, with a median age of 34 months. Ages at first symptoms, first visit, and diagnosis were significantly lower for the CD group. However, there was no significant difference in the time from first symptoms to diagnosis between CD and UC. Patients with weight loss, anemia, and fistulas did not meet established criteria for DD and were referred early. Conclusion: Our study underscores the importance of early recognition of VEO-IBD, with bloody diarrhea, abdominal pain, and weight loss serving as crucial warning signs. Identifying these symptoms can aid in the early diagnosis and prompt referral to a specialist, potentially reducing the risk of DD. Relevance for patients: Early recognition of bloody diarrhea, abdominal pain, and weight loss in young children can speed diagnosis of VEO-IBD and ensure timely referral to specialist care.

Keywords

Very early-onset inflammatory bowel disease / Diagnostic delay / Crohn’s Disease / Ulcerative colitis / Diarrhea / Blood in stools / Abdominal pain / Weight loss

Acknowledgments

The authors would like to express their appreciation to the incredible children and families who have profoundly enriched our understanding of the art of medicine.

Funding

None.

Conflict of interest

The authors declare that they have no competing interests.

Author contributions

Conceptualization: Juliana Tedesco Dias, Mary de Assis Carvalho, Nilton Carlos Machado Formal analysis: Mary de Assis Carvalho Investigation: Debora Avellaneda Penatti, Jessika Alves de Souza Costa Methodology: Juliana Tedesco Dias, Gabriela Nascimento Hercos, Carine Dias Ferreira de Jesus Writing–original draft: Mary de Assis Carvalho, Nilton Carlos Machado, Juliana Tedesco Dias Writing–review & editing: Mary de Assis Carvalho, Nilton Carlos Machado

Ethics approval and consent to participate

The Ethics Committee from Botucatu Medical School approved the study (CAAE 90158218.0.0000.5411). Written informed consent was obtained from the parents/caretaker.

Consent for publication

All authors consented to publication.

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