The Impact of Delayed Diagnosis on Outcomes in Hirschsprung Disease: A Comparative Analysis

Hirschsprung disease (HD) is a congenital disease characterized by a lack of neural innervation of the distal bowel. This causes fecal stasis, which results in a wide variety of non-specific fecal obstructive symptoms. Identification of patients with HD can, therefore, be challenging, causing a delayed diagnosis. This may lead to complications such as Hirschsprung-associated enterocolitis (HAEC) and bowel perforation. Current evidence regarding the short postoperative and long-term outcomes in patients with delayed diagnosis is inconclusive. Therefore, the aims of this study were to examine (1) short-term postoperative complications, (2) long-term occurrence of HAEC, (3) requirement of interventions, (4) functional outcomes, and (5) quality of life comparing patients diagnosed with HD before and after 6 months of age.

We retrospectively analyzed patients with HD undergoing surgery at our center between 2000 and 2022. Each patient diagnosed after 6 months of age was matched to two controls diagnosed before 6 months of age, controlling for potential confounders such as sex and length of aganglionosis. Functional outcomes and quality of life were assessed using the Hirschsprung/Anorectal Malformation Quality of Life Questionnaire and relevant items from the Groningen Defecation and Continence Scale. Outcomes also included the occurrence of HAEC and the need for interventions (laxatives, rectal irrigations, botulinum toxin injections). Statistical analyses included independent t-tests, Mann-Whitney U tests, chi-square tests, or Fisher's exact tests as appropriate. The follow-up duration was from the time of operation until follow-up.

Seventeen patients older than 6 months at the time of diagnosis were matched with 34 control patients. No significant differences between groups were found in the number of short-term postoperative complications (p = 0.166) and the long-term occurrence of HAEC (p = 0.569), laxative use (p = 0.771), rectal irrigation use (p = 0.156), number of botulinum toxin injections (p = 0.715), functional outcomes (p = 0.412), and quality of life (p = 0.783).

Our findings suggest that delayed diagnosis does not impact short-term postoperative complications and the long-term occurrence of HAEC, requirement of intervention, functional outcomes, and quality of life between patients with delayed diagnosis of HD and patients diagnosed early in life. Future work should focus on identifying risk factors for poor outcomes, standardizing diagnostic criteria, and refining surgical strategies to improve care for all patients with HD.