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Hirschsprung disease

Updated May 21, 2025

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 Inherited and Congenital Anomalies (ERN ERNICA 2020).

Screening and diagnosis

Diagnosis: as per ERN 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 ERN ERNICA 2020 guidelines:

Consider obtaining genetic testing of RET in patients with non-syndromic Hirschsprung's disease.

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 ERN 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 ERN 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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Surgical interventions

Pull-through surgery, indications: as per ERN 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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Specific circumstances

Patients with Hirschsprung's associated enterocolitis: as per ERN 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

Calculator

When to use

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

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Calculation

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The Hirschsprung's Associated Enterocolitis (HAEC) Score is a clinical calculator used in the pediatric population, specifically in children diagnosed with Hirschsprung's disease. This scoring system is used to diagnose and assess the severity of enterocolitis, a serious and potentially life-threatening complication of Hirschsprung's disease. The HAEC score takes into account various clinical parameters such as abdominal distension, diarrhea, vomiting, fever, lethargy, and rectal bleeding. The higher the score, the more severe the enterocolitis. This calculator is crucial in guiding the management and treatment of these patients. It is not applicable to patients without a diagnosis of Hirschsprung's disease or those with other causes of enterocolitis.

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Follow-up and surveillance

Management of persistent fecal incontinence: as per ERN 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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