Rectal Biopsy Technique for the Diagnosis of Hirschsprung Disease in Children

Abstract

The diagnosis of Hirschsprung disease (HD) depends on the histopathological analysis of rectal biopsies. This review aims to define the best rectal biopsy technique. A systematic literature review and proportional meta-analysis of the available case series studies of rectal biopsies were performed in this study. All case series with more than five rectal biopsies in children younger than 18 years of age suspected of HD that described at least one type of rectal biopsy were included. The studies that did not specify the rate of conclusive results and the rate of complications of the biopsy procedures were excluded. According to the literature review, there were four different techniques of rectal biopsy: open, suction, punch, and endoscopic. In the title and abstract screening process, we assessed 496 articles, 159 fulfilled the eligibility criteria, and 71 studies reported our outcomes of interest and were included in the meta-analysis. The pooled proportion of conclusive results was 94% in open biopsies (95% CI 0.89–0.98), 95% in punch (95% CI 0.90–0.98), and 88% in suction group (95% CI 0.85–0.92). The pooled proportion of complication rates was 2% in open biopsies (95% CI 0.00031–0.04), 0.039% in suction (95% CI 0.00023–0.0006), and 2% in punch biopsies (95% CI 0.00075–0.04). Suction, punch, and open techniques presented comparable rates of conclusive results. In the suction group, the association between different methods of histopathological analysis increased conclusive results rates; however, the punch biopsy was associated with significantly higher complication rates than the suction technique.

Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses

“…The first aim of our study was to identify the prevalence and severity of complications following RSB. In accordance with two systematic reviews, 15,16 we found a low prevalence of complications following RSB. However, our findings contrast with those of a systematic review by Friedmacher and Puri, which included a total of 14,053 RSBs, in 58 cohorts, obtained at a median age of 14.4 months.…”

“…One possibility is that different biopsy suction instruments were used in the studies covered in the review compared with our study. 15,16 However, the types of instruments have not been reported by Friedmacher and Puri and therefore this comparison cannot be made. 15 Based on our data, we suggest a low threshold for obtaining RSBs in young children presenting with symptoms suggestive of HD.…”

“…However, the disadvantage of this approach is that a large group of patients unnecessarily faces invasive examination with a potential risk of complications. 16 RSB has a low complications rate (0.65%), but data are lacking describing the severity of complications following RSB. 15 Therefore, we studied patients suspected of HD undergoing RSB, below 6 months of age, aiming to give insight into the following: (1) the incidence and severity of complications caused by RSB, (2) the final diagnoses of patients referred for RSB, and (3) factors associated with HD.…”

Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease

“…This may necessitate larger biopsies in older children to achieve an equivalent adequate result. [9] [10] [11] In the present study we demonstrated that taking more than one biopsy (multiple passes) during a suction rectal biopsy procedure also greatly decreased the chances of an inadequate biopsy. The addition of calretinin staining as a means of reducing inadequacy rates is also important to note, as none of the suction biopsies where calretinin staining was performed were inadequate compared to 14% of those without calretinin staining.…”

“…However, the rate of inadequate suction rectal biopsy has been demonstrated to be signi cant with a recent systematic review of the literature estimating 12% diagnostic insu ciency associated with suction biopsy. [9] Practice at our institution has generally been to perform suction rectal biopsy in infants and younger children, and incisional biopsy on older children based on the potential likelihood of increased inadequacy rate associated with suction biopsy with older age patients. [10] [11] Currently, no universal standard or protocol exists for age at which suction vs incisional biopsy should be performed and the literature is variable.…”