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Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung’s disease: results from an international survey

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Abstract

Purpose

The diagnosis of Hirschsprung’s disease (HD) was revolutionized by the introduction of rectal suction biopsy (RSB), allowing specimens to be taken without general anesthesia on the ward or as an out-patient procedure. However, insufficient tissue samples are not uncommon, and subsequently histopathologists often remain reluctant to confirm the presence or absence of enteric ganglion cells merely on the basis of submucosal RSBs. The aim of this study was to evaluate the current usage of RSB in the diagnostic work-up of HD based on an international survey.

Methods

A 15-item questionnaire was distributed among participants and faculty members at the 21st International Meeting of the Pediatric Colorectal Society.

Results

Eighty-seven pediatric surgeons from 30 countries completed the anonymous survey (response rate 70.2 %), grouped into 68 (78.2 %) staff surgeons and 19 (21.8 %) trainees, with a median work experience of 18 years (range 2–45 years). Of these, 74 (85.1 %) use RSB in the diagnostic work-up of patients with suspected HD, whereas 13 (14.9 %) prefer open full-thickness biopsy under general anesthesia. In total, 47 (63.5 %) respondents perform ≥20 RSBs (range 3–100 RSBs) per year. Five different RSB instruments were reported, the most common ones being rbi2 (65.0 %), Solo-RBT (15.0 %) and multipurpose suction biopsy kit (8.3 %). Only 22 (29.7 %) of the respondents use a defined negative suction pressure, with a median of 10 mL air (range 6–25 mL air). The most proximal reported biopsy site was located at a median of 2 cm (range 1–15 cm) above the pectinate line and a median of 2 (range 1–5) specimens are routinely taken, mainly from the posterior rectal wall. Insufficient tissue samples with need for repeat RSB were encountered in a median of 10 % (range 0–40 %). Most frequently used staining methods for rectal biopsies are hematoxylin/eosin (75.9 %), acetylcholinesterase (73.6 %), and calretinin (33.3 %). Overall, 36 (48.6 %) respondents had experienced RSB-related complications, including self-limiting rectal blood loss (n = 28), persistent rectal bleeding requiring blood transfusion (n = 9) and rectal perforation requiring surgical intervention (n = 7).

Conclusions

Although RSB is considered to be today’s gold standard for the diagnosis of HD, many aspects of its current usage are lacking consensus. Therefore, a prospective multi-center study or larger global audit appears warranted to identify if the present survey reflects common surgical practice and to establish universal standards for RSB.

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References

  1. Kapur RP (1999) Hirschsprung disease and other enteric dysganglionoses. Crit Rev Clin Lab Sci 36(3):225–273

    Article  CAS  PubMed  Google Scholar 

  2. Monforte-Muñoz H, Gonzalez-Gomez I, Rowland JM et al (1998) Increased submucosal nerve trunk caliber in aganglionosis: a “positive” and objective finding in suction biopsies and segmental resections in Hirschsprung’s disease. Arch Pathol Lab Med 122(8):721–725

    PubMed  Google Scholar 

  3. Dobbins WO 3rd, Bill AH Jr (1965) Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. N Engl J Med 272(13):990–993

    Article  PubMed  Google Scholar 

  4. Noblett HR (1969) A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4(4):406–409

    Article  CAS  PubMed  Google Scholar 

  5. Martucciello G, Pini Prato A, Puri P et al (2005) Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung’s disease and related neurocristopathies. J Pediatr Surg 40(10):1527–1531

    Article  PubMed  Google Scholar 

  6. Qualman SJ, Jaffe R, Bove KE et al (1999) Diagnosis of Hirschsprung disease using the rectal biopsy: multi-institutional survey. Pediatr Dev Pathol 2(6):588–596

    Article  CAS  PubMed  Google Scholar 

  7. Knowles CH, De Giorgio R, Kapur RP et al (2010) The London classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut 59(7):882–887

    Article  PubMed  Google Scholar 

  8. Hall NJ, Kufeji D, Keshtgar A (2009) Out with the old and in with the new: a comparison of rectal suction biopsies with traditional and modern biopsy forceps. J Pediatr Surg 44(2):395–398

    Article  PubMed  Google Scholar 

  9. Dahshan A (2014) Serious rectal bleeding complicating suction rectal biopsy in a child. W V Med J 110(2):34–35

    PubMed  Google Scholar 

  10. Pini-Prato A, Carlini C, Pesce F et al (2011) Massive bleeding after rectal suction biopsy: uncommon and unexpected delayed onset. World J Pediatr 7(1):83–85

    Article  PubMed  Google Scholar 

  11. Rees BI, Azmy A, Nigam M et al (1983) Complications of rectal suction biopsy. J Pediatr Surg 18(3):273–275

    Article  CAS  PubMed  Google Scholar 

  12. Friedmacher F, Puri P (2015) Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int 31(9):821–830

    Article  PubMed  Google Scholar 

  13. Kurer MH, Lawson JO, Pambakian H (1986) Suction biopsy in Hirschsprung’s disease. Arch Dis Child 61(1):83–84

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Yunis EJ, Dibbins AW, Sherman FE (1976) Rectal suction biopsy in the diagnosis of Hirschsprung disease in infants. Arch Pathol Lab Med 100(6):329–333

    CAS  PubMed  Google Scholar 

  15. Lake BD, Puri P, Nixon HH et al (1978) Hirschsprung’s disease: an appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis. Arch Pathol Lab Med 102(5):244–247

    CAS  PubMed  Google Scholar 

  16. Aldridge RT, Campbell PE (1968) Ganglion cell distribution in the normal rectum and anal canal. A basis for the diagnosis of Hirschsprung’s disease by anorectal biopsy. J Pediatr Surg 3(4):475–490

    Article  CAS  PubMed  Google Scholar 

  17. Venugopal S, Mancer K, Shandling B (1981) The validity of rectal biopsy in relation to morphology and distribution of ganglion cells. J Pediatr Surg 16(4):433–437

    Article  CAS  PubMed  Google Scholar 

  18. Kapur RR (2009) Practical pathology and genetics of Hirschsprung’s disease. Semin Pediatr Surg 18(4):212–223

    Article  PubMed  Google Scholar 

  19. Ohi RJ, Tseng SW, Kamiyama T et al (1990) Two-point rectal mucosal biopsy for selection of surgical treatment of Hirschsprung’s disease. J Pediatr Surg 25(5):527–530

    Article  CAS  PubMed  Google Scholar 

  20. Campbell PE, Noblett HR (1969) Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4(4):410–415

    Article  CAS  PubMed  Google Scholar 

  21. Alizai NK, Batcup G, Dixon MF et al (1998) Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatr Surg Int 13(2–3):121–124

    Article  CAS  PubMed  Google Scholar 

  22. Athow AC, Filipe MI, Drake DP (1990) Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 25(5):520–526

    Article  CAS  PubMed  Google Scholar 

  23. Kobayashi H, Li Z, Yamataka A et al (2002) Rectal biopsy: what is the optimal procedure? Pediatr Surg Int 18(8):753–756

    PubMed  Google Scholar 

  24. Ali AE, Morecroft JA, Bowen JC et al (2006) Wall or machine suction rectal biopsy for Hirschsprung’s disease: a simple modified technique can improve the adequacy of biopsy. Pediatr Surg Int 22(8):681–682

    Article  CAS  PubMed  Google Scholar 

  25. Croffie JM, Davis MM, Faught PR et al (2007) At what age is a suction rectal biopsy less likely to provide adequate tissue for identification of ganglion cells? J Pediatr Gastroenterol Nutr 44(2):198–202

    Article  PubMed  Google Scholar 

  26. Muise ED, Hardee S, Morotti RA et al (2016) A comparison of suction and full-thickness rectal biopsy in children. J Surg Res 201(1):149–155

    Article  PubMed  Google Scholar 

  27. Martucciello G (2008) Hirschsprung’s disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench. Eur J Pediatr Surg 18(3):140–149

    Article  CAS  PubMed  Google Scholar 

  28. Barshack I, Fridman E, Goldberg I et al (2004) The loss of calretinin expression indicates aganglionosis in Hirschsprung’s disease. J Clin Pathol 57(7):712–716

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Meier-Ruge W, Lutterbeck PM, Herzog B et al (1972) Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 7(1):11–17

    Article  CAS  PubMed  Google Scholar 

  30. de Lorijn F, Kremer LC, Reitsma JB et al (2006) Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr 42(5):496–505

    Article  PubMed  Google Scholar 

  31. Meinds RJ, Kuiper GA, Parry K et al (2015) Infant’s age influences the accuracy of rectal suction biopsies for diagnosing of Hirschsprung’s disease. Clin Gastroenterol Hepatol 13(10):1801–1807

    Article  PubMed  Google Scholar 

  32. Brady AC, Saito JM, Lukas K et al (2016) Suction rectal biopsy yields adequate tissue in children. J Pediatr Surg 51(6):966–969

    Article  PubMed  Google Scholar 

  33. de Brito IA, Maksoud JG (1987) Evolution with age of the acetylcholinesterase activity in rectal suction biopsy in Hirschsprung’s disease. J Pediatr Surg 22(5):425–430

    Article  PubMed  Google Scholar 

  34. Jani BR, Brereton RJ, Dillon MJ (1989) Peripheral limb gangrene following rectal biopsy. Treatment with prostacyclin and exchange transfusion. Clin Pediatr (Phila) 28(12):585–588

    Article  CAS  Google Scholar 

  35. Ghosh A, Griffiths DM (1998) Rectal biopsy in the investigation of constipation. Arch Dis Child 79(3):266–268

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Lewis NA, Levitt MC, Zallen GS et al (2003) Diagnosing Hirschsprung’s disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg 38(3):412–416

    Article  PubMed  Google Scholar 

  37. Simpson BB, Ryan DP, Schnitzer JJ et al (1996) Surgical evaluation and management of refractory constipation in older children. J Pediatr Surg 31(8):1040–1042

    Article  CAS  PubMed  Google Scholar 

  38. Wheatley MJ, Wesley JR, Coran AG et al (1990) Hirschsprung’s disease in adolescents and adults. Dis Colon Rectum 33(7):622–629

    Article  CAS  PubMed  Google Scholar 

  39. Keyzer-Dekker CM, Sloots CE, Schokker-van Linschoten IK et al (2016) Effectiveness of rectal suction biopsy in diagnosing Hirschsprung disease. Eur J Pediatr Surg 26(1):100–105

    PubMed  Google Scholar 

  40. Pini-Prato A, Martucciello G, Jasonni V (2006) Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg 41(6):1043–1048

    Article  PubMed  Google Scholar 

  41. Goto S, Ikeda K, Toyohara T (1984) Histochemical confirmation of the acetylcholinesterase-activity in rectal suction biopsy from neonates with Hirschsprung’s disease. Z Kinderchir 39(4):246–249

    CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank all the attendees and faculty members of the 21st International Meeting of the Pediatric Colorectal Society that participated in this survey.

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Authors and Affiliations

  1. National Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland

    Florian Friedmacher & Prem Puri

  2. Conway Institute of Biomolecular and Biomedical Research, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland

    Prem Puri

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  1. Florian Friedmacher
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  2. Prem Puri
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Correspondence to Prem Puri.

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The authors declare that this research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest.

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Friedmacher, F., Puri, P. Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung’s disease: results from an international survey. Pediatr Surg Int 32, 717–722 (2016). https://doi.org/10.1007/s00383-016-3907-0

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