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Questioning the Correlation Between Incidence of Hirschsprung Disease and Indications for Rectal Biopsy
Go Miyano1, Takamasa Suzuki1, Risa Masuda1
1Pediatric Surgery, Juntendo University Urayasu Hospital, Urayasu, Japan.
Insights
Adding laxative use as an indication for rectal mucosal/submucosal biopsy (RMSBx) increased Hirschsprung
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Diagnostics
Background:
- Hirschsprung's disease (HD) diagnosis relies on rectal mucosal/submucosal biopsy (RMSBx).
- Indications for RMSBx in pediatric patients with chronic constipation have evolved.
- Previous indications focused on enema usage (E+), with newer guidelines including laxative use (L+).
Purpose of the Study:
- To review and analyze the indications for RMSBx in diagnosing HD in pediatric patients.
- To investigate the impact of changing RMSBx indications on the detected incidence of HD.
- To assess the diagnostic yield and patient outcomes associated with different RMSBx indications.
Main Methods:
- Retrospective review of medical records for 562 pediatric patients (1-15 years) evaluated for chronic constipation (2012-2022).
- Comparison of RMSBx rates and HD incidence between patients with prior enema usage (E+) and those meeting new laxative use criteria (L+).
- Subgroup analysis of L+ patients based on concurrent enema usage (L+E+ vs. L+E-).
Main Results:
- RMSBx rates were significantly higher in the laxative use group (27.6%) compared to the enema usage group (8.8%).
- While HD incidence was numerically higher in the laxative group (31.0% vs. 22.2%), the difference was not statistically significant.
- Postoperative outcomes, including bowel movement frequency and need for laxatives, showed no significant differences between groups.
Conclusions:
- Expanding indications for RMSBx to include laxative use may increase the detection rate of Hirschsprung's disease.
- Further evaluation of diagnostic criteria is necessary to accurately diagnose HD.
- The study suggests that current indications might underestimate the true incidence of HD.
Abstract:
To review the indications for rectal mucosal/submucosal biopsy (RMSBx) used for diagnosing Hirschsprung's disease (HD) in pediatric patients. The medical records of all children between 1 and 15 years old assessed for chronic constipation between 2012 and 2022 were reviewed. Until the end of 2018, enema usage (E+) was a major indication for RMSBx. In 2019, laxative use for 3 months irrespective of enema use was added as an indication (L+). To determine the relevance of enema usage, L+ was subdivided by enema usage into (L+E+) and (L+E-) groups. The effect of changing the indications for RMSBx on the incidence of HD was investigated. Of 562 eligible subjects, E+ = 410, L+ = 152; demographics are similar. RMSBx rate in E+ (E+RMSBx) was 36/410 (8.8%) and in L+ (L+RMSBx) was 42/152 (27.6%;) (P < .05). For L+RMSBx, 15/42 were L+E+ and 27/42 were L+E-. HD incidence in E+RMSBx was 8/36 (22.2%; E+HD) and in L+RMSBx was 13/42 (31.0%; L+HD) (p = ns). In L+RMSBx, HD incidence in L+E+ was 5/15 (33.3%; L+E+HD) and in L+E- was 8/27 (29.6%; L+E-HD) (P = ns). Differences in daily bowel motion frequency 6 months postoperatively were not statistically significant; E+HD (1.75/d) versus L+HD (2.03/d) and L+E+HD (1.60/day) versus L+E-HD (2.31/day). Unassisted voluntary defecation was confirmed 12 months postoperatively in 7/8 (87.5%) E+HD, 11/13 (84.6%) L+HD, 4/5 (80.0%) L+E+HD, and 7/8 (87.5%) L-E-HD; differences were not significant. Laxatives were still required in 2/8 (25.0%) E+HD, 3/13 (23.1%) L+HD, in 1/5 (20.0%) in L+E+HD, and 2/8 (25.0%) L+E-HD; differences were not significant. Incidence of HD was higher in L+HD, but not significantly different suggesting that indications for RMSBx have potential to influence incidence of HD and hint that the incidence of HD could actually be higher. Further assessment of additional indications is warranted to diagnose HD with greater accuracy.
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