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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).
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Screening and diagnosis

Diagnosis: as per ERNICA 2020 guidelines, diagnose Hirschsprung's disease based on representative rectal histology. Confirm the diagnosis before performing pull-through surgery.
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Diagnostic investigations

Genetic analysis
As per ERNICA 2020 guidelines:
Consider obtaining genetic testing of RET in patients with non-syndromic Hirschsprung's disease.
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Refer patients with syndromic Hirschsprung's disease for genetic consultation and screening for the specific gene associated with the syndromic phenotype.
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Diagnostic procedures

Rectal biopsy: as per ERNICA 2020 guidelines, perform rectal biopsy if the clinical history and physical signs are suggestive of Hirschsprung's disease.
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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.
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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.
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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.
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Hirschsprung's Associated Enterocolitis (HAEC) Score
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When to use
Diarrhea with explosive stool
No
Yes
Diarrhea with foul-smelling stool
No
Yes
Diarrhea with bloody stool
No
Yes
History of enterocolitis
No
Yes
Explosive discharge of gas and stool on rectal examination
No
Yes
Distended abdomen
No
Yes
Decreased peripheral perfusion
No
Yes
Lethargy
No
Yes
Fever
No
Yes
Multiple air fluid levels
No
Yes
Dilated loops of bowel
No
Yes
Sawtooth appearance with irregular mucosal lining
No
Yes
Cutoff sign in rectosigmoid with absence of distal air
No
Yes
Pneumatosis
No
Yes
Leukocytosis
No
Yes
Shift to left
No
Yes
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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.
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  • Management of persistent obstructive symptoms

  • Long-term follow-up