Hirschsprung Disease Guidelines

Updated: Aug 02, 2021
  • Author: Justin P Wagner, MD; Chief Editor: BS Anand, MD  more...
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Rectosigmoid Hirschsprung Disease Guidelines (ERNICA, 2020)

The following clinical practice guidelines for the management of rectosigmoid Hirschsprung disease were released in June 2020 by the European Reference Network for Rare Inherited and Congenital [digestive] Anomalies (ERNICA). [82]

Diagnosis of Hirschsprung Disease

Base the diagnosis of Hirschsprung disease on representative rectal histology; this should be confirmed before performing pull-through surgery. Open biopsy and rectal suction biopsy provide equally accurate results, provided ample submucosal tissue is accessed. Choose the least invasive and most feasible method. Obtain biopsy specimens from the posterior and/or lateral rectal wall, at least 2 cm proximal to the dentate line or 3 cm from the anal orifice. The specimen must include a representative amount of submucosa. At minimum, one histologically representative tissue sample is mandatory. With open biopsy, one usually provides sufficient tissue; however, with rectal suction biopsy, it is recommended that 2-3 biopsy specimens be taken.

Indications for rectal biopsy are clinical history findings and physical examination signs suggestive of Hirschsprung disease. The classic triad of symptoms is delayed passage of meconium (>24 h in a term infant), abdominal distension, and bilious vomiting. Most Hirschsprung disease patients present in the neonatal period or early infancy. Consider a lower threshold for biopsy when a syndrome associated with Hirschsprung disease or a family history of Hirschsprung disease is present.

Also consider performing a rectal biopsy to exclude Hirschsprung disease in the following scenarios:

  • Failure to thrive associated with early-onset constipation

  • Older children with symptoms of more generalized intestinal motility disorders or persistent constipation

  • Patients with no rectoanal inhibitory reflex evident on anorectal manometry

Who Should Operate on Patients With Hirschsprung Disease

Pull-through surgery for patients with Hirschsprung disease should be performed at centers that have at least two pediatric colorectal surgeons, along with anesthetic, radiological, and pathological expertise; this should include pediatric/neonatal ICU care and specialized nursing available around the clock. Better outcomes are achieved in complex or rare pediatric surgical conditions when there is a concentration of interdisciplinary experience. In order to achieve appropriate surgical management, there must be an accurate primary assessment of the disease phenotype. Centers that regularly manage Hirschsprung disease have a low incidence of re-do surgery, as well better management of complications.

Centers at which pull-through surgery is performed for Hirschsprung disease should be equipped with the capability to manage the entire care pathway, which includes primary surgical management of all types of Hirschsprung disease, multidisciplinary care up to adulthood, and specialist nursing, as well as management of surgical complications. Comprehensive follow-up care to adulthood should be available, including transition of care.

The following should be provided at centers that operate on Hirschsprung disease patients:

  • Active involvement in quality control and improvement

  • Maintenance of prospective registries to permit assessment and monitoring of case volumes and outcomes

  • Surgeon, pathologist, and nurse practitioner training in diagnostics and management of Hirschsprung disease to ensure continuity of local expertise

  • Networking and participation in continued medical and surgical education to ensure care practices and their understanding of the disease process are up to date.

  • Information on patient support organizations early in the process

Preoperative Care in Hirschsprung Disease

Perform saline rectal irrigation one to three times per day to decompress the bowel until definitive pull-through surgery can be performed. For preoperative bowel preparation, an additional colonic wash-out may be administered.

If rectal irrigations do not adequately achieve bowel decompression or complications arise such as enterocolitis unresponsive to nonoperative treatment, or bowel perforation, creation of a stoma is indicated. The recommended safest empiric level is an ileostomy. An ileostomy is also recommended in pneumoperitoneum, provided it is proximal to the site of perforation. To determine the ganglionic status of the bowel at that level, a representative circumferential (doughnut) biopsy can be taken from the site of stoma formation.

To help determine the likely level of aganglionosis, when possible, perform a preoperative contrast enema. A change in colonic caliber suggests a histological transition zone at this level. In the region proximal to the rectosigmoid junction, changes in colonic caliber are less accurate in predicting the level of disease; in this scenario, consider the possibility of long-segment Hirschsprung disease. Contrast studies should be considered complementary modalities during the preoperative workup, and they should not replace histological assessment for diagnosis confirmation.

Prior to pull-through surgery, preoperatively administer one dose of broad-spectrum intravenous antibiotics. Local regimens and regional resistance profiles determine the antibiotic choice; however, coverage should include both aerobic and anaerobic bacteria. Administering more than one preoperative dose of antibiotics has not shown additional benefit; however, antibiotics may be continued for 24-48 hours postoperatively.

Operative Management of Rectosigmoid Hirschsprung Disease

Centers at which pull-through surgery is performed should focus on the type on which they have the most experience; this includes management of postoperative complications and follow-up care. The most commonly performed types of operations are transanal endorectal pull-through (including laparoscopic-assisted endorectal pull-through) and Duhamel pull-through. Current evidence does not suggest an overall superiority of one method versus another regarding surgical complications or long-term bowel function.

The timing for pull-through surgery is when the patient is stable and growing well; the bowel should be sufficiently decompressed. The usual timing is elective pull-through at 2-3 months after diagnosis. There is no specific advantage for performing the surgery in the neonatal period. The timing of the pull-through surgery is influenced by the following:

  • Anesthetic considerations

  • Clinical and nutritional status of the patient

  • Parental concerns

  • Surgical risks and technical feasibility

Preserve the anal canal during pull-through surgery. Commence the transanal dissection 0.5-2 cm proximal to the dentate line. Comparable outcomes in endorectal pull-through can be achieved with either no muscle cuff (Swenson) or a short muscle cuff (< 2-3 cm); avoid long seromuscular cuffs.

Transect the colon at least 5-10 cm proximal to the first normal biopsy specimen site in order to minimize the risk of a transition zone pull-through. If uncertain about the level of disease, obtain mapping biopsy specimens from different colonic levels. During the operation, fresh-frozen sections remain a valid method for determining the presence of normal ganglionated bowel; however, asymmetrical histologic extension of the transition zone may be missed if single samples are taken. To achieve a circumferential (4-quadrant) optimal histologic assessment, perform a circular doughnut biopsy from the level of transection. If possible, in order to avoid a transition zone pull-through, resect any abnormally dilated colon proximally. When the operation is complete, the resected specimen should be marked “oral to anal” and sent in full to the pathologist.

Early Postoperative Management After Pull-Through Surgery

In the early postoperative period, specialist pediatric and nursing care should be made available, and an anesthetic consultation should be available on request. The principles of Enhanced Recovery After Surgery may help reduce the need for narcotic analgesia, length of stay, and time to full enteral feeding. It is important that the parents receive counselling in order to ensure understanding and engagement with the plan of care. The onset of bowel movements is commonly accompanied by perianal rash and skin excoriation, which require preemptive nursing.

Begin enteral feeding gradually, after the patient has recovered from anesthesia and is clinically stable, which occurs within 24-48 hours in most cases. Feeding advancement to a normal diet can occur as tolerated. No evidence suggests that prolonged nothing-by-mouth protocols prevent anastomotic complications.

Remove the urinary catheter as soon as normal micturition is expected after pelvic floor surgery. An indication for keeping a urinary catheter in place is postoperative epidural anesthesia. Monitor the adequacy of postoperative urine output, as urinary retention after catheter removal can occur following anesthesia or with postoperative tissue swelling in the pelvic floor.

Calibrate the coloanal anastomosis approximately 2-3 weeks after pull-through surgery. The appropriate size for infants from term to age 6 months is Hegar size 12. Performing routine serial dilatations has not been proven to reduce enterocolitis or late anastomotic stricture prevalence. Should an anastomotic stricture be observed, gentle serial dilatations may be attempted, but with a low threshold for moving to examination and dilatation under anesthesia.

Long-Term Follow-Up

Regular follow-up to adulthood by an interdisciplinary care team, led by a pediatric surgeon, is required for children with Hirschsprung disease. During the first year of life, follow-up should be more frequent; however, regular contact once or twice annually suffices thereafter. Additional resources should be made available, such as nutritional therapists, gastroenterologists, physiotherapists, psychologists, social workers, and specialist nurses. Ensure that wider areas of social functioning, such as self-efficacy, coping skills, and sexual function, are addressed. Monitor growth, nutrition, and development.

The following should be available for access to care and specialist consultations:

  • A named surgeon in charge of care

  • Clear information about follow-up care (where and how)

  • Clearly defined information on emergency care

  • Patient support organization networks for information and peer support

Introduce patients to adult medical disciplines and prepare them well before the transition from pediatric care. Initiate discussions on long-term follow-up care around puberty/adolescence, and maintain continuity and consistency of the health care into adulthood. As patients grow older, provide appropriate information and increase engagement in decision making. Clearly identify the future care provider, and provide an opportunity for a staged transition and liaison with pediatric services during the transition phase.

Additional Resources

For more information, see Pediatric Hirschsprung Disease and Hirschsprung Disease Imaging.

For more Clinical Practice Guidelines, go to Guidelines.