Treatment of Hirschsprung Disease
Surgical resection of the aganglionic bowel segment is the definitive treatment for Hirschsprung disease, with pull-through procedures being the standard approach. 1, 2
Preoperative Management
Initial Stabilization
- Rectal irrigations (transanal irrigation) are the primary preoperative treatment to decompress the bowel and prevent complications while awaiting definitive surgery 3
- Surgery is typically performed around 3-6 months of age, though timing should be expedited in high-risk patients 3
- Patients with total colonic aganglionosis (TCA) require urgent surgical planning due to significantly higher complication rates (OR 9.905) and should have minimal delay before surgery 3
Critical Preoperative Complications to Monitor
- Bowel perforation occurs in 7% of patients awaiting surgery, with 5% caused by transanal irrigation itself 3
- Hirschsprung-associated enterocolitis (HAEC) develops in up to one-third of patients and represents a significant cause of mortality 2
- Other complications include sepsis (5%), ileus (4%), and persistent obstruction (4%) 3
- In patients with TCA, perforation risk is particularly life-threatening, including one lethal case reported, making expedited surgery critical 3
Definitive Surgical Treatment
Surgical Approaches
Multiple pull-through techniques are available, with selection based on surgeon experience and extent of disease 4:
- Duhamel procedure 4
- Transanal endorectal pull-through (TERPT) 4
- Transabdominal Yancey-Soave procedure 4
- Martin and Kimura procedures 4
Expected Outcomes by Disease Extent
- Long-segment Hirschsprung disease patients typically achieve good functional outcomes with voluntary bowel movements and continence 4
- Total colonic aganglionosis patients have significantly worse outcomes, with approximately one-third experiencing persistent soiling and failure to achieve voluntary bowel movements 4
Postoperative Management and Complications
Common Post-Pull-Through Problems
Symptomatic patients after surgery fall into three distinct categories requiring systematic evaluation 5:
- Fecal incontinence 5
- Obstructive symptoms (constipation, abdominal distention) 5
- Recurrent enterocolitis episodes 5
Treatment Strategies for Post-Operative Issues
- Medical management is first-line for most post-operative symptoms 5
- Botulinum toxin injection for non-relaxing internal anal sphincter contributing to obstructive symptoms or recurrent enterocolitis 5
- Reoperation is reserved for cases with specific anatomic or pathologic abnormalities identified on systematic workup 5
- Bowel management programs should be implemented, similar to approaches for functional constipation 6
Enterocolitis Surveillance
- HAEC occurs in approximately 23-67% of patients post-operatively (3 of 13 long-segment patients and 4 of 6 TCA patients in one series) 4
- Close monitoring for enterocolitis must continue for years after surgery, as this remains a significant cause of morbidity and mortality 2
- Symptoms include fever, diarrhea, abdominal distention, and potential progression to sepsis 7
Additional Postoperative Complications
- Surgical site infections occur in approximately 53% of patients 4
- Diaper rash and skin breakdown from frequent stools 4
- Long-term follow-up is essential to identify complications early and provide appropriate treatment 4
Special Considerations
Associated Conditions
- Hirschsprung disease occurs in 7-9% of patients with certain genetic syndromes, including 22q11.2 deletion syndrome and skeletal dysplasias [7, @50@]
- Congenital malformations may coexist, including esophageal atresia, tracheoesophageal fistula, malrotation, and anal abnormalities 7
Multidisciplinary Approach
- A systematic diagnostic protocol is essential for symptomatic post-operative patients, including rectal biopsy, anorectal manometry, and contrast enema studies 5
- Nutritional support may be required for patients with extensive resections or persistent symptoms 5
- Bladder dysfunction frequently coexists and requires concurrent evaluation and management 6