Subscribe to RSS
A Critical Analysis of Rectal Biopsy to Exclude Hirschsprung's Disease
Introduction Most Hirschsprung's disease (HD) are diagnosed in young children with increased risk (”red flag”). Older children (>6 months) require open rectal biopsy (ORB) with its own impact on risk and resources. We investigated if “red flag”, age, and sex used in combination could exclude HD.
Materials and Methods “Red flags” are risk factors associated with HD, including neonatal bowel obstruction, genetic association, failure of passage of meconium in <48 hours, infantile constipation, distension with vomiting, or family history. All rectal biopsies (2015–2018) were reviewed for indications, methods, and histopathological findings. Logistic regression analysis was adopted to assess predictive value of “red flag,” age, and sex (p < 0.05* was significant).
Results A total of 187 children underwent 84 suction rectal biopsies and 113 ORBs (n = 197 in total). Final histopathological diagnoses were non-HD (n = 154) and HD (n = 43). Total 78% of rectal biopsies were non-HD, of which 63% by ORB. Non-HD was associated with absence of “red flag” (49 vs. 16%*), increased age at biopsy (22 months vs. 28 days*), >6 months old (62 vs. 30%*), and female gender (54 vs. 16%*), compared with HD. In the absence of “red flag,” 7/82 (9%) had HD (negative predictive value = 91%). Logistic regression analysis found absent “red flag” predicted non-HD biopsy with odds ratio 4.77 (1.38, 16.47), corrected for age and sex.
Conclusion Negative rectal biopsy rate for HD is very high. The majority required ORB. Although “red flag” and gender, but not age, have strong predictive values, it is inadequate for excluding HD. This study supports the need for alternative strategies in excluding HD.
Received: 09 August 2020
Accepted: 09 December 2020
07 February 2021 (online)
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
- 1 Swenson O, Fisher JH, MacMahon HE. Rectal biopsy as an aid in the diagnosis of Hirschsprung's disease. N Engl J Med 1955; 253 (15) 632-635
- 2 Muise ED, Cowles RA. Rectal biopsy for Hirschsprung's disease: a review of techniques, pathology, and complications. World J Pediatr 2016; 12 (02) 135-141
- 3 Alizai NK, Batcup G, Dixon MF, Stringer MD. Rectal biopsy for Hirschsprung's disease: what is the optimum method?. Pediatr Surg Int 1998; 13 (2-3): 121-124
- 4 Ghosh A, Griffiths DM. Rectal biopsy in the investigation of constipation. Arch Dis Child 1998; 79 (03) 266-268
- 5 Friedmacher F, Puri P. Rectal suction biopsy for the diagnosis of Hirschsprung's disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int 2015; 31 (09) 821-830
- 6 Khan AR, Vujanic GM, Huddart S. The constipated child: how likely is Hirschsprung's disease?. Pediatr Surg Int 2003; 19 (06) 439-442
- 7 Rahman N, Chouhan J, Gould S. et al. Rectal biopsy for Hirschsprung's disease--are we performing too many?. Eur J Pediatr Surg 2010; 20 (02) 95-97
- 8 National Institute for Clinical Excellence (NICE) Guideline. Constipation in children and young people: diagnosis and management [CG99]. Published May 26, 2010, updated July 13, 2017. Accessed May 21, 2020 at: https://www.nice.org.uk/guidance/cg99/chapter/1-Guidance#clinical-investigations
- 9 Friedmacher F, Puri P. Hirschsprung's disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality. Pediatr Surg Int 2013; 29 (09) 937-946
- 10 Wood RJ, Yacob D, Levitt MA. Surgical options for the management of severe functional constipation in children. Curr Opin Pediatr 2016; 28 (03) 370-379
- 11 Mugie SM, Benninga MA, Di Lorenzo C. Epidemiology of constipation in children and adults: a systematic review. Best Pract Res Clin Gastroenterol 2011; 25 (01) 3-18
- 12 Tabbers MM, DiLorenzo C, Berger MY. et al; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition, North American Society for Pediatric Gastroenterology. Evaluation and treatment of functional constipation in infants and children: evidence-based recommendations from ESPGHAN and NASPGHAN. J Pediatr Gastroenterol Nutr 2014; 58 (02) 258-274
- 13 Tan YW, Chacon CS, Olivos M. et al. Late diagnosis of Hirschsprung's disease: impact on core outcomes. Abstract for British Association of Paediatric Surgeons Congress 2019, Poster Walk C no. 24, pp. 156
- 14 Stensrud KJ, Emblem R, Bjornland K. Late diagnosis of Hirschsprung's disease – patient characteristics and results. J Ped Surg 2013; 47: 1874-1879
- 15 Lewis NA, Levitt MA, Zallen GS. et al. Diagnosing Hirschsprung's disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg 2003; 38 (03) 412-416
- 16 Taxman TL, Yulish BS, Rothstein FC. How useful is the barium enema in the diagnosis of infantile Hirschsprung's disease?. Am J Dis Child 1986; 140 (09) 881-884
- 17 Pratap A, Gupta DK, Tiwari A. et al. Application of a plain abdominal radiograph transition zone (PARTZ) in Hirschsprung's disease. BMC Pediatr 2007; 7: 5
- 18 Garcia R, Arcement C, Hormaza L. et al. Use of the recto-sigmoid index to diagnose Hirschsprung's disease. Clin Pediatr (Phila) 2007; 46 (01) 59-63
- 19 de Lorijn F, Kremer LC, Reitsma JB, Benninga MA. Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr 2006; 42 (05) 496-505
- 20 National Institute for Clinical Excellence (NICE) Guideline. 2010 [CG99], Published May 2010, paragraph 1.3.3, pp19. Accessed May 21, 2020 at: https://www.nice.org.uk/donotdo/do-not-use-anorectal-manometry-to-exclude-hirschsprung-s-disease-in-children-and-young-people-with-chronic-constipation
- 21 Huang Y, Zheng S, Xiao X. Preliminary evaluation of anorectal manometry in diagnosing Hirschsprung's disease in neonates. Pediatr Surg Int 2009; 25 (01) 41-45
- 22 Kawahara H, Kubota A, Hasegawa T. et al. Anorectal sleeve micromanometry for the diagnosis of Hirschsprung's disease in newborns. J Pediatr Surg 2007; 42 (12) 2075-2079
- 23 Meinds RJ, Trzpis M, Broens PMA. Anorectal manometry may reduce the number of rectal suction biopsy procedures needed to diagnose Hirschsprung disease. J Pediatr Gastroenterol Nutr 2018; 67 (03) 322-327
- 24 Athanasakos E, Cleeve S, Thapar N. et al. Anorectal manometry in children with defecation disorders BSPGHAN Motility Working Group consensus statement. Neurogastroenterol Motil 2020; 32 (06) e13797
- 25 Eldridge C, Kennedy R. Nonpharmacologic techniques for distress reduction during emergency medical care: a review. Clin Pediatr Emerg Med 2010; 11: 244-250
- 26 Rawat D, Amon P, Mallon G, Berry F, Goto E. Using play specialist therapy to reduce the use of sedation for anorectal manometry tests. J Pediatr Gastroenterol Nutr 2010; 50 (Suppl. 02) E3-E3
- 27 Lamparyk K, Mahajan L, Lamparyk C. et al. Effects of a psychological preparation intervention on anxiety associated with pediatric anorectal manometry. Int J Pediatr 2019; 2019: 7569194
- 28 Yoshimaru K, Kinoshita Y, Yanagi Y. et al. The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung's disease: a 30-year experience of 954 patients. Pediatr Surg Int 2017; 33 (02) 173-179