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

Abstract

BackgroundHirschsprung disease is one of the most common congenital anomalies that affects colorectal function. Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. Suction and incisional rectal biopsies are appropriate methods for obtaining diagnostic tissue. The goal of this study is to determine if any differences in adequacy exist between suction and incisional rectal biopsies at our institution. MethodsWe conducted a retrospective review of suction and incisional rectal biopsies for inadequacy per procedure at a tertiary pediatric hospital. Each procedure for rectal biopsy was also evaluated by number of biopsies per procedure. We used two-sample test of proportions to compare inadequacy of suction vs. incisional biopsies. Results133 rectal suction biopsy procedures (227 biopsies) and 125 incisional biopsy procedures (140 biopsies) were analyzed. In patients 6 months of age and older, the percentage of inadequate procedures was substantially higher in the suction biopsy group (24.1% vs 0.9%, p < 0.01). ConclusionsA substantially higher proportion of inadequacy was found in suction rectal biopsy group compared to the incisional cohort among the older patient cohort, suggesting incisional biopsies should be strongly considered as primary rectal biopsy method in patients older than 6 months.

Biopsy Diagnosis of Hirschsprung's Disease Using a Single Excisional Biopsy Based on the Anorectal Line

“…As a result, rectal suction biopsy is performed by over 80% of pediatric surgeons in 30 countries for the diagnostic workup of pediatric patients with problematic constipation, 2,4 despite known inadequacies secondary to patient movement or inability to cooperate. 4,10,11 While rectal suction biopsies potentially have the advantage of not requiring anesthesia and might therefore have a place as first line method in particular in infants, when adequately exposed by careful positioning under general anesthesia, the ARL is just as obvious as the dentate line but has proven anatomic, neurologic, and physiologic implications, ensuring that results can be interpreted without confusion and multiple biopsies because of inadequate specimen size/quality. Despite the high proportion of normoganglionic biopsies in this series, the distributions of normoganglionosis and aganglionosis in this series were typical of other reports in the literature; in fact, aganglionosis was comparable to other series, 2,33 but achieved with reproducible precision, because of the 1-ARL protocol.…”

“…As a result, rectal suction biopsy is performed by over 80% of pediatric surgeons in 30 countries for the diagnostic workup of pediatric patients with problematic constipation, 2,4 despite known inadequacies secondary to patient movement or inability to cooperate. 4,10,11 While rectal suction biopsies potentially have the advantage of not requiring anesthesia and might therefore have a place as the first-line method in particular in infants, when adequately exposed by careful positioning under general anesthesia, the ARL is just as obvious as the dentate line but has proven anatomic,…”

“…In fact, some institutions do not actively encourage suction rectal biopsy in patients older than 6 months, with excisional rectal biopsy under general anesthesia considered more reliable for a definitive diagnosis. 4,10,11 Thus, the ideal biopsy must be taken from a precise site in the most distal part of the enteric nervous system and an excisional rectal biopsy can be controlled for location and size.…”

Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung’s disease – a method description and preliminary report

“…However, concerns have been raised as lack of submucosa in the microscope after collection, leveling and staining, is reported frequently [ 3 – 5 ]. Reasons for this could be that the biopsy does not include enough of the submucosa, something that has been attributed especially to aganglionic biopsies, age or weight of the child at the time of the biopsy [ 4 , 6 – 10 ]. In theory, other reasons for the lack of submucosa in RSB specimens could be that the collected submucosa is partly disturbed after collection, such as due to poor handling, or as a result of the fact that the RSB tissue becomes skewed horizontally when being leveled after paraffin embedding.…”

“…A lower rate of submucosal representation and, therefore, a lower diagnostic efficacy, has been attributed specifically to aganglionic tissue which has been suggested to be less compliant as a result of fibrosis [ 4 ]. Other reported factors influencing RSB diagnostic efficacy are the age and weight of the child, and the biopsy collector’s and/or pathologist’s experience, in addition to the RSB-specimen handling with respect to careless treatment of fresh- and formalin-treated specimens, and/or suboptimal/erroneous orientation in histopathologic leveling [ 3 – 10 ]. Any impact of orienting rectal biopsies or RSB specimens on the diagnostic efficacy is, as yet, unknown, but in 1970, an accurate orientation of fresh RSB specimens was suggested to lead to more accurate histopathological analyses [ 11 ].…”