Post written by Kenneth Barshop, MD, from the Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.

This study demonstrated a potential new application of an existing technique, endoscopic mucosal resection (EMR), to aid in the diagnosis of Hirschsprung’s Disease. While EMR has been established as a therapeutic and diagnostic procedure for removal of superficial carcinomas or premalignant lesions, this is the first systematic case series evaluating EMR against the traditional diagnostic technique of rectal suction biopsy, it and demonstrated a significant improvement in diagnostic yield using EMR. Among adult patients with severe constipation in which there is clinical suspicion for Hirschsprung’s as a potential etiology, the method of rectal suction biopsy (RSB) has a relatively low diagnostic yield of approximately 50%. Given the advancements in endoscopic technique that have occurred since RSB was first described in 1969, this study has served as a proof of concept that an existing technique that is widely available at tertiary care centers may serve as an alternative method of diagnosing HD in the adult population.

Seventeen patients were enrolled, and underwent both EMR and RSB. There were no reports of complications from either procedure. The RSB sample volumes were significantly lower than EMR samples (0.023 cm3 vs. 0.26 cm3, P=0.001), and there was sufficient diagnostic tissue in 53% of cases by RSB compared to 100% by EMR (P=0.003). No cases of HD were diagnosed by RSB; one patient had rare ganglions observed by EMR. There is an immediate clinical utility to improving diagnostic accuracy through a relatively safe outpatient procedure that does not require colonic prep thus preventing an invasive, additional procedure such as surgical full thickness rectal biopsy.

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