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

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.

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

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).

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.