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Too Many Biopsies Performed to Rule Out Hirschsprung's Disease: But It is Worth Doing Them
Laura A F Phillips1, Ahmed A Darwish1,2, Rajendra Surana1
1Department of Paediatric Surgery, Noah's Ark Children's Hospital for Wales, Cardiff, United Kingdom.
Insights
A review found many rectal biopsies for Hirschsprung's disease (HSD) were not indicated by NICE guidelines, yet were mostly negative. Strict adherence to guidelines risks missing HSD diagnoses.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Clinical Guidelines
Background:
- The U.K. National Institute for Health and Clinical Excellence (NICE) provides specific indications for rectal biopsies to diagnose Hirschsprung's disease (HSD).
- These indications include delayed meconium passage, early-onset constipation, chronic abdominal distension with vomiting, family history of HSD, and faltering growth.
Purpose of the Study:
- To evaluate a tertiary referral center's adherence to NICE guidelines for rectal biopsies in suspected Hirschsprung's disease (HSD).
- To assess alternative indications for biopsies and document complication rates.
Main Methods:
- A retrospective analysis was conducted on patients who underwent open or suction rectal biopsies between 2009 and 2014 to investigate HSD.
- Data collected included patient demographics, indications for biopsy, histological findings, and any complications.
Main Results:
- Out of 214 biopsies performed on 188 patients, 128 (68.1%) met NICE indications.
- A significant proportion of biopsies (31.9%) were performed without strict adherence to NICE guidelines; however, most of these unindicated biopsies were negative for HSD.
- Twenty-five patients were diagnosed with HSD, and 20% of these HSD cases did not have NICE-indicated biopsies, highlighting potential risks of missed diagnoses with strict guideline adherence.
Conclusions:
- The study identified a substantial number of rectal biopsies performed for reasons not strictly aligned with NICE guidelines, with most yielding negative results.
- Rectal biopsies are generally safe, but overly strict adherence to NICE guidelines could lead to delayed or missed diagnoses of Hirschsprung's disease, potentially causing severe morbidity and mortality.
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.