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Surgical management for Hirschsprung disease

A review for primary care providers

Green, Holly L. MPAS, PA-C; Rizzolo, Denise PhD, PA-C; Austin, Mary MD, MPH

Journal of the American Academy of PAs: April 2016 - Volume 29 - Issue 4 - p 24–29
doi: 10.1097/01.JAA.0000481397.68475.41
CME: Surgery

ABSTRACT Primary care providers may encounter infants and children with Hirschsprung disease, a congenital colonic defect. Although primarily a surgical problem, the disease requires extensive supportive care and a multidisciplinary approach that often extends beyond surgical correction. This article reviews the management of Hirschsprung disease.

Holly L. Green practices pediatric surgery in the Division of Surgery, Department of Pediatric Surgery at Children's Hospital Los Angeles in Los Angeles, Calif. Denise Rizzolo is a clinical assistant professor in the PA program at Pace University in New York City and an associate professor in the PA program at Seton Hall University in South Orange, N.J. Mary Austin is a pediatric surgeon in the Department of Surgical Oncology at MD Anderson Cancer Center in Houston, Tex. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Earn Category I CME Credit by reading both CME articles in this issue, reviewing the post-test, then taking the online test at Successful completion is defined as a cumulative score of at least 70% correct. This material has been reviewed and is approved for 1 hour of clinical Category I (Preapproved) CME credit by the AAPA. The term of approval is for 1 year from the publication date of April 2016.

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Hirschsprung disease is a congenital defect manifested by the absence of parasympathetic ganglion cells in the distal colon. Patients have a lack of peristalsis and a loss of involuntary relaxation of the internal anal sphincter, which leads to functional bowel obstruction. Severe constipation and mega-colon proximal to the area of affected bowel can occur, and can cause life-threatening enterocolitis if left untreated. The rectum is always involved, with 80% of cases limited to the rectosigmoid colon.1 In some patients, variable longer segments of the bowel are involved; total colonic aganglionosis occurs in 8% to 10% of patients with no significant differences by sex of the patient.1

Hirschsprung disease is found predominantly in males (male-to-female ratio 4:1) and is associated with trisomy 21 and other genetic syndromes. Incidence is usually reported as 1 in 5,000 newborns. However, a recent large European study reported a prevalence of 1.09 cases per 10,000 births.2 Fortunately, overall mortality showed a significant decline between 1978 and 2002, from 7.1% to 3%.3

Surgical intervention with resection of aganglionic bowel is the principal treatment for Hirschsprung disease, and has evolved since the 1950s. Traditionally, colostomies were routinely performed to prevent enterocolitis, and “pull-through” corrective surgery (in which abnormal bowel is removed and healthy bowel connected to the anus) had higher rates of complication compared with present-day rates.4 Between 1997 and 2006, the frequency of colostomies performed in infants in the United States decreased from 36% to 28%, and pull-through operations are now performed at a younger age with greater success.5 Pediatric surgeons follow children with Hirschsprung disease from diagnosis to corrective surgery in infancy, and manage postoperative care as well as long-term complications. Primary care providers should be familiar with the signs, symptoms, and treatment of the disease to facilitate communication with the child's surgical team.

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About 80% of patients with Hirschsprung disease are diagnosed in the first few months of life, but in about 20% of cases, the diagnosis is made beyond the newborn period.6,7 Failure to pass meconium in the first 24 hours of life is the classic presenting symptom and warrants further evaluation. Infants can present with abdominal distension, constipation with megacolon, and signs of bowel obstruction, which may coincide with poor feeding, bilious vomiting, or signs of enterocolitis such as fever, explosive bloody diarrhea, and dehydration. Some children with short (bowel) segment Hirschsprung disease may be diagnosed later in life and may present with chronic constipation, malnutrition, and failure to thrive. Consider Hirschsprung disease in the differential diagnosis for any child with refractory constipation and abdominal distension.

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Diagnosis begins with physical examination, diagnostic imaging, and anal manometry and is confirmed by rectal biopsy. Palpation of the abdomen can indicate abdominal distension, and a digital rectal examination identifies a tight anal sphincter, often with the absence of stool in the rectal vault. Withdrawal of the examiner's finger may elicit an explosive release of stool and gas.

An abdominal radiograph will show dilated loops of bowel (Figure 1), often with the absence of stool and gas in the rectum. In patients with bowel obstruction, the abdominal radiograph may show air-fluid levels in the colon; pneumatosis intestinalis and free air in the abdomen are more ominous signs of enterocolitis with perforation.8 A water-soluble contrast enema may show a tapering transition zone between normal and aganglionic bowel, most often in the recto-sigmoid colon, and the recto-sigmoid index (the ratio of the diameter of the rectum to the diameter of the sigmoid colon) will be less than 1 (Figure 2).9 A systematic review by de Lorijn and colleagues showed that contrast enemas had only 70% sensitivity; false-negative results occurred after rectal washouts or digital rectal examinations, and false-positive results occurred in patients with meconium plugs.10





An absent rectoanal inhibitory reflex has a negative predictive value of 100%, and can be evaluated by anal manometry most effectively in children older than age 1 year.11 However, manometry is now considered to be unnecessary because the reflex also can be evaluated with a modified contrast enema.11,12 If the results of these initial tests suggest the diagnosis of Hirschsprung disease, or raise significant clinical concern, a rectal biopsy is necessary to confirm the diagnosis.

The gold standard for diagnosis in newborns is a rectal suction biopsy, which has mean sensitivity of 97% and specificity of 99%.13 A rectal biopsy can be done at the bedside by the surgeon using a suction catheter. Several samples of the rectal mucosa should be obtained 1 to 3 cm above the dentate line and should include the submucosa. Hayes and colleagues found that a single rectal suction biopsy can exclude a diagnosis of Hirschsprung disease 65% of the time.14 The combination of aganglionosis and hypertrophic nerves in the biopsy is diagnostic and along with pathology assessment is essential in the diagnosis. Calretinin and acetylcholinesterase stains aid in identifying aganglionosis and hypertrophic nerves, respectively. A full-thickness open rectal biopsy is performed in nonneonates and requires anesthesia.

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Hirschsprung disease enterocolitis can occur preoperatively (up to 50% incidence) or as a postoperative complication (up to 22% incidence).15,16 Patients present with abdominal distension, fever, vomiting, and explosive diarrhea. Fecal stasis from aganglionosis leads to bacterial overgrowth in the gut, followed by inflammation of the mucosa with fever and an elevated white blood cell count. Bowel perforation, septic shock, and death can result if enterocolitis goes untreated.

Patients with Hirschsprung disease enterocolitis should be treated with rectal irrigation, antibiotic coverage for Gram-negative organisms and anaerobes, nasogastric decompression, and IV fluids. If an infant presents preoperatively with severe enterocolitis, a diverting colostomy proximal to the aganglionic bowel is indicated as the first stage of a two-stage corrective surgery.17 Consultation with the pediatric surgeon in the first few days of life will lead to better prognosis, as the earlier Hirschsprung disease is diagnosed, the sooner rectal washouts can be initiated and the lower the incidence of enterocolitis.15 PAs should be able to recognize a child with enterocolitis and be prepared to initiate emergent resuscitation if necessary.

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Infants with Hirschsprung disease will have corrective surgery within the first few weeks of life or months later, depending on their overall health, and degree of colonic distension.17 The goal of preoperative management is to prevent enterocolitis and to reduce colonic distension. Infants who do not have an ostomy need daily rectal irrigation to prevent enterocolitis until they are ready for surgery. Rectal irrigation with 10 to 20 mL/kg of warm 0.9% sodium chloride solution can be done at home by the parents to facilitate passage of stool and to keep the rectum decompressed.8 A large-bore rubber catheter is used and allows efflux of the 0.9% sodium chloride solution and stool.8

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Corrective surgical techniques have evolved over time. Historically, three techniques (Swenson, Duhamel, and Soave) have been used, and studies show that some patients will have postoperative defecation disorders no matter which type of procedure is performed (Figure 3).18 Pull-through procedures rely on the ability to anastomose healthy colon to a rectal cuff, but some risk of residual aganglionic bowel is inevitable. The anastomosis must be proximal to the dentate line to reduce injury to the internal anal sphincter and pelvic nerves and maintain fecal continence. All three techniques can be performed with open abdominal incisions or laparoscopic-assisted. They can be done as two-stage (with an initial diverting colostomy) or as single-stage. The Swenson and Soave techniques also can be performed completely from a transanal approach.



The most commonly used technique is a laparoscopic-assisted transanal pull-through; an adaptation of either the Soave or Swenson technique.19 When surgery is performed as a single-stage procedure, patients have less pain, shorter hospital stays, and improved cosmesis.20 With the refinement of the pull-through operation in which a pelvic dissection is avoided, sequela of urinary and sexual dysfunction have been minimal.21,22

In a two-stage surgery, a diverting colostomy is done initially, followed by a pull-through procedure weeks to months later. Diverting colostomies are no longer routinely performed because corrective surgeries are being done at a younger age, before patients develop enterocolitis. Surgeons now are moving more toward single-stage procedures. However, a temporary ostomy is indicated as the first stage if the child presents with severe enterocolitis, total colonic aganglionosis, perforation, malnutrition, or a massively dilated proximal bowel.4 PAs in primary care should be familiar with ostomy care and be able to recognize a healthy ostomy as having pink viable mucosa with slight protrusion from the abdominal wall after postoperative swelling has resolved. Stomas that are dark in color, prolapsed, retracted, or stenotic require further evaluation.23

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Up to 60% of children have complications after corrective surgery.18,21 In the immediate postoperative period, 50% of patients have fecal soiling and diarrhea unrelated to obstruction, which typically normalizes over several months.17 This can be treated with fiber to add bulk to stool and loperamide to slow colonic transit.18 During this transition, young children may have severe perianal excoriation that can be treated with a barrier cream such as zinc oxide.

Long-term obstructive complications leading to constipation can result from anastomotic stricture, achalasia of the anal sphincter, or residual aganglionosis. Patients can also have fecal incontinence of varying degrees, or recurrent enterocolitis. Children with these long-term complications require a multidisciplinary approach of coordinated care with a pediatric gastroenterologist, pediatric surgeon, nutritionist, psychologist, and the primary care provider.

PAs should be familiar with the causes and treatments of long-term obstructive complications.

  • Anastomotic stricture can occur secondary to stenosis of the rectal cuff or from anastomotic leakage. Historically, anastomic stricture has been prevented and/or treated with daily anal dilation at home by the parents using an anal dilator or digital manipulation. However, especially in older children, this method can cause psychosocial problems. Temple and colleagues found that weekly anal dilation in the surgeon's office let parents remain in the role of protector and was just as effective as daily dilations.24
  • Anal sphincter achalasia, or persistent neurogenic spasm of the internal sphincter, is characterized by constipation and fecal incontinence. The pediatric surgeon will administer botulinum toxin (Botox) injections for achalasia. Basson and colleagues found that Botox injections had a 36% success rate (in 4 out of 11 patients with Hirschsprung disease) for achalasia.25 Alternatively, anal sphincter achalasia can be treated with topical nitrous oxide or posterior myomectomy. Areas of residual aganglionosis may be missed in the initial surgery due to patchy areas of normal bowel at the transition zone. If chronic constipation is due to residual aganglionosis, a repeat pull-through operation or a permanent colostomy may be necessary.
  • Constipation from obstruction can be treated with careful bowel management with fiber, adequate oral hydration, and laxatives. For patients with severe constipation, the Malone antegrade colonic enema procedure, allowing colonic irrigation from the ileocecal junction, had a 100% success rate in 10 patients with Hirschsprung disease, and provides autonomy for older children.26
  • Fecal soiling, although usually not severe, can have a significant psychosocial effect on children with Hirschsprung disease, causing embarrassment and social isolation.27 Abnormal anal sensation results from residual aganglionosis or as a sequela to surgery. Soiling becomes a problem when the anal sphincter is injured during surgery or secondary to constipation with overflow incontinence. Soiling tends to improve with time; however, this is a postoperative concern to some degree for more than 50% of patients during childhood.21 Children who cannot control fecal leaking are prone to social rejection. Parents should be counseled to avoid strict toilet training and to understand that the soiling is not a deviant behavior on the part of the child. Diseth and colleagues found that parental warmth was the strongest predictor of psychosocial outcome in adolescents with Hirschsprung disease.28 A supportive home environment for children with Hirschsprung disease will help to ameliorate long-term emotional problems.
  • Enterocolitis can be recurrent and difficult to treat long-term. Elhalaby and colleagues found that recurrent postoperative enterocolitis occurred in 38% of patients who had enterocolitis preoperatively.16 Management of recurrent enterocolitis is beyond the scope of this article, but patients may require reoperation. Despite surgical correction, the remaining bowel may not be functionally normal. As discussed above, enterocolitis must be treated with urgent resuscitation, bowel rest, antibiotics, and a diverting colostomy if necessary.
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Although the treatment for Hirschsprung disease is predominantly surgical, PAs in primary care often may collaborate with pediatric surgeons when caring for a child with Hirschsprung disease. When the patient is a newborn, clear communication between the primary care providers and the surgical team is essential. Surgical consultation is requested if a newborn does not pass meconium within the first 24 hours. The surgeon would then initiate rectal washout and/or anal dilation, order diagnostic studies, and perform a suction rectal biopsy. The primary care provider would reinforce teaching to the family to perform the rectal washouts at home and incorporate follow-up visits to check on feeding, weight gain, and bowel management.

PAs should be prepared to initiate resuscitation if an infant presents emergently with enterocolitis. Additionally, if the child has a colostomy, the family will need follow-up for management for ostomy care. Communication and coordination between the care teams often is the responsibility of PAs. A child with Hirschsprung disease without complications should be followed regularly to at least age 5 years, and the PA should observe for signs of long-term postoperative complications.4 With routine multidisciplinary supportive care, children with Hirschsprung disease can have a good quality of life and productive adulthood.22

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PAs in primary care will encounter patients with Hirschsprung disease in their practice and should understand the disease and its management. PAs should be prepared to advocate for their patients, recognize problems, order appropriate testing, and communicate with specialists to optimize care.

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Hirschsprung disease; pediatric; congenital; surgical management; ganglion cells; colon

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