Abstract
Introduction The U.K. National Institute for Health and Clinical Excellence (NICE) specify the
following indications for performing rectal biopsy to rule out Hirschsprung's disease
(HSD): (1) passage of meconium > 48 hours; (2) constipation since first few weeks
of life; (3) chronic abdominal distension with vomiting; (4) family history of HSD;
and (5) faltering growth in addition to any other indication. The aim of this study
was to assess the compliance of a tertiary referral center with the current U.K. NICE
guidelines for performing rectal biopsies to rule out HSD. Secondary aims included
assessing alternative indications and complication rates.
Materials and Methods Retrospective analysis of patients undergoing open or suction rectal biopsies to
investigate HSD, from 2009 to 2014.
Results A total of 188 patients underwent 214 biopsies (suction: n = 154, open: n = 60). Note that 128 patients (68.1%) had biopsies indicated by NICE. A total of
84.4% of indicated biopsies were ganglionic versus 91.7% of unindicated biopsies (p = 0.17). Twenty-five patients were diagnosed with HSD (mean age: 13.2 weeks, range:
3 days–3.2 years). Only 80% of HSD patients had NICE-indicated biopsies. Presentations
for patients with biopsies not indicated by NICE included constipation, distension,
and vomiting that did not strictly meet the guidelines. The majority of biopsies were
uncomplicated (suction 82.5% vs. open 95.0%)—inadequate/indeterminate histology was
the most common complication (16.2% suction vs. 5% open).
Conclusion A significant number of unindicated biopsies were performed, the majority of which
were ganglionic. Rectal biopsies are generally safe and strict adherence to the NICE
guidelines could have led to missed HSD diagnoses with potential significant morbidity
and mortality.
Keywords
Hirschsprung's disease - rectal biopsy - aganglionosis - NICE guidelines
