Table of contents
Hirschsprung disease
Guidelines
Key sources
The following summarized guidelines for the evaluation and management of Hirschsprung disease are prepared by our editorial team based on guidelines from the European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA 2020).
1
Screening and diagnosis
Diagnostic investigations
Genetic analysis
As per ERNICA 2020 guidelines:
Consider obtaining genetic testing of RET in patients with non-syndromic Hirschsprung's disease.
C
Refer patients with syndromic Hirschsprung's disease for genetic consultation and screening for the specific gene associated with the syndromic phenotype.
B
Diagnostic procedures
Perioperative care
Pre-operative management: as per ERNICA 2020 guidelines, administer rectal saline irrigations 1-3 times daily to decompress the bowel until the definitive pull-through surgery.
B
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Post-operative management
Surgical interventions
Pull-through surgery, indications: as per ERNICA 2020 guidelines, perform pull-through surgery in stable and well-growing patients with Hirschsprung's disease, if the bowel has been sufficiently decompressed.
B
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Pull-through surgery (technical considerations)
Pull-through surgery (setting)
Specific circumstances
Patients with Hirschsprung's associated enterocolitis: as per ERNICA 2020 guidelines, suspect the diagnosis of Hirschsprung's associated enterocolitis in patients with explosive diarrhea, foul-smelling stool and/or HAEC score of ≥ 4.
B
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Hirschsprung's Associated Enterocolitis (HAEC) Score
History
Diarrhea with explosive stool
Diarrhea with foul-smelling stool
Diarrhea with bloody stool
History of enterocolitis
Physical examination
Explosive discharge of gas and stool on rectal examination
Distended abdomen
Decreased peripheral perfusion
Lethargy
Fever
Imaging findings
Multiple air fluid levels
Dilated loops of bowel
Sawtooth appearance with irregular mucosal lining
Cutoff sign in rectosigmoid with absence of distal air
Pneumatosis
Laboratory findings
Leukocytosis
Shift to left
Criteria not met
Follow-up and surveillance
Management of persistent fecal incontinence: as per ERNICA 2020 guidelines, consider evaluating pediatric patients > 4 years old with fecal incontinence and normal intellectual development, including:
elicit stooling history and pattern to evaluate for tendency to constipation or diarrhea, and involuntary passage of flatus
elicit dietary history and growth
perform examination under anesthesia with or without anorectal manometry to assess the integrity of the anal canal, sphincter complex and dentate line, and for the presence of rolled muscle cuff, stricture or rectal spur
obtain contrast enema to evaluate for colonic dilatation, rectal spur, constipation, or a twisted pull-through
with or without obtaining endorectal ultrasound to assess for sphincter defects.
B
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Management of persistent obstructive symptoms
Long-term follow-up