From the Guidelines
Hirschsprung's disease diagnosis should be approached with a combination of clinical evaluation, imaging studies, and confirmatory biopsy, with a barium enema or manometry and potentially full thickness rectal biopsy being essential for diagnosis, as indicated in the context of congenital central hypoventilation syndrome 1.
Diagnostic Approach
The diagnostic process for Hirschsprung's disease typically involves:
- Clinical evaluation focusing on symptoms such as delayed passage of meconium, chronic constipation, abdominal distension, and failure to thrive.
- Initial imaging studies, including abdominal X-rays to detect bowel obstruction and contrast enemas which may show a transition zone between dilated and narrowed bowel segments.
- Anorectal manometry to demonstrate the absence of the rectoanal inhibitory reflex.
- Confirmatory biopsy, with full-thickness biopsies providing the most definitive results, though suction biopsies are less invasive and often sufficient for diagnosis.
Importance of Early Diagnosis
Early diagnosis of Hirschsprung's disease is crucial to prevent serious complications such as toxic megacolon, enterocolitis, and malnutrition. The approach to diagnosis may vary based on patient age, with a greater emphasis on contrast studies in older children presenting with chronic constipation rather than acute obstruction. In the context of congenital central hypoventilation syndrome, as discussed in 1, the diagnosis of Hirschsprung's disease is critical for the comprehensive management of these patients, who may also have other systemic involvements such as cardiac rhythm abnormalities and ophthalmologic issues.
From the Research
Hirschsprung's Disease Diagnosis
- Hirschsprung's disease is defined as the absence of ganglion cells in the Meissner and Auerbach plexuses, with diagnosis depending on demonstrating the absence of ganglion cells in rectal biopsy specimens 2.
- Rectal suction biopsy is widely employed as the method of choice in obtaining such specimens, with a predictive value of 65% in excluding Hirschsprung's disease at the first biopsy session 2.
- A second biopsy session can exclude the diagnosis in an additional 11% of patients, with both the Multipurpose Suction Biopsy Kit and the Model SBT-100 Suction Biopsy Kit yielding biopsies of comparable quality 2.
Diagnostic Accuracy and Complications
- Rectal suction biopsy combined with acetylcholinesterase staining is currently the gold standard for the diagnosis of Hirschsprung's disease, with a mean sensitivity of 96.84% and mean specificity of 99.42% 3.
- The overall complication rate of rectal suction biopsy is 0.65%, with persistent rectal bleeding requiring blood transfusion in 0.53%, bowel perforation in 0.06%, and pelvic sepsis in 0.06% 3.
- Complications are significantly more frequent in newborns and infants compared to older children, with an odds ratio of 9.00 3.
Laboratory Procedures and Techniques
- Immunohistochemical markers, such as calretinin, have been increasingly used in pathology laboratories to detect ganglion cells and nerve fibers, with calretinin staining being supportive for the diagnosis of Hirschsprung's disease 4.
- Hematoxylin and eosin with or without acetylcholinesterase remains the criterion standard for diagnosis, with acetylcholinesterase staining on fresh-frozen material having slightly higher rates of sensitivity and specificity 4.
- Different rectal biopsy techniques, including open, suction, punch, and endoscopic, have been compared in terms of conclusive results and complication rates, with suction, punch, and open techniques presenting comparable rates of conclusive results 5.
Diagnostic Approaches
- Different institutions have varying diagnostic approaches to confirming or excluding the presence of Hirschsprung's disease, including serial morphologic examination of rectal biopsies, primary diagnostic utility of the acetylcholinesterase stain, and detailed gross and microscopic analysis of rectal biopsies 6.
- The need for careful and continual communication between the clinician and pathologist in diagnosing or excluding the presence of Hirschsprung's disease is imperative 6.