PUBLISHED AHEAD-OF-PRINT

Surgical management for Hirschsprung

disease: A review for primary care
providers
Holly L. Green, MPAS, PA-C; Denise Rizzolo, PhD, PA-C; Mary Austin, MD, MPH

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.
Keywords: Hirschsprung disease, pediatric, congenital,
surgical management, ganglion cells, colon

Learning objectives
Explain the pathophysiology, causes, and clinical presenta-
tion of Hirschsprung disease.
Discuss the management of patients with Hirschsprung
disease, including perioperative, surgical, and postsurgical
options.
Describe the collaborative roles of primary care providers
and surgeons in the care of patients with Hirschsprung
disease.

H
irschsprung 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
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.
DOI: 10.1097/01.JAA.0000481397.68475.41
Copyright © 2016 American Academy of Physician Assistants
FIGURE 1. Abdominal radiograph showing dilated colon in a
patient with Hirschsprung disease
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
PUBLISHED AHEAD-OF-PRINT
Key points
Surgery is the principal treatment for Hirschsprung dis-
ease, and usually takes place in infancy.
Hirschsprung enterocolitis is a life-threatening complica-
tion of the disease and can be prevented.
Management of patients with Hirschsprung disease during
childhood requires a multidisciplinary team.
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 complica-
tions. Primary care providers should be familiar with the
signs, symptoms, and treatment of the disease to facilitate
communication with the child’s surgical team.
CLINICAL PRESENTATION
About 80% of patients with Hirschsprung disease are
diagnosed in the first few months of life, but in about 20%
FIGURE 2. Abdominal radiograph showing contrast enema with
transitional zone
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 evalua-
tion. Infants can present with abdominal distension, con-
stipation 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, malnutri-
tion, and failure to thrive. Consider Hirschsprung disease
in the differential diagnosis for any child with refractory
constipation and abdominal distension.
DIAGNOSIS
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 diam-
eter 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
 Surgical management for Hirschsprung disease: A review for primary care providers
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 nonneo-
nates and requires anesthesia.
HIRSCHSPRUNG DISEASE ENTEROCOLITIS
Hirschsprung disease enterocolitis can occur preopera-
tively (up to 50% incidence) or as a postoperative com-
plication (up to 22% incidence).15,16 Patients present with
abdominal distension, fever, vomiting, and explosive
diarrhea. Fecal stasis from aganglionosis leads to bacte-
rial 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 preop-
eratively 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.
PREOPERATIVE MANAGEMENT
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 irri-
gation 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 solu-
tion and stool.8
CORRECTIVE SURGERY
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 per-
formed 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
Up to 60% of children
have complications after
corrective surgery.
dissection is avoided, sequela of urinary and sexual dys-
function 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. Sur-
geons 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
LONG-TERM COMPLICATIONS
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 obstruc-
tion, 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 consti-
pation 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
PUBLISHED AHEAD-OF-PRINT
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,
FIGURE 3. Swenson, Soave, and Duhamel techniques29
In the Swenson technique, a rectal dissection is performed and
an end-to-end anastomosis is formed between the ganglionic
bowel and a short rectal cuff. The Soave technique was devel-
oped to avoid dissection in the pelvis that might injure pelvic
nerves and lead to sexual dysfunction or neurogenic bladder.
This technique involves submucosal dissection of the agangli-
onic bowel that leaves the muscular layer of a rectal cuff. The
normal bowel is then pulled through the cuff in a telescoping
fashion and anastomosed just above the dentate line. The
procedure has evolved to leave a very short rectal cuff that
minimizes residual aganglionic bowel. The Duhamel technique
involves a limited pelvic dissection, and resection of abnormal
colon with an aganglionic rectal segment left in place, side-to-
side anastomosed with the healthy colon.
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 prob-
lems. Temple and colleagues found that weekly anal dila-
tion 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 admin-
ister 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 acha-
lasia can be treated with topical nitrous oxide or posterior
myomectomy. Areas of residual aganglionosis may be
 Surgical management for Hirschsprung disease: A review for primary care providers
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 care-
ful 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 agangliono-
sis or as a sequela to surgery. Soiling becomes a problem
when the anal sphincter is injured during surgery or sec-
ondary 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 post-
operative 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 colos-
tomy if necessary.
COLLABORATING WITH SURGEONS
Although the treatment for Hirschsprung disease is pre-
dominantly 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 respon-
sibility 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
CONCLUSION
PAs in primary care will encounter patients with
Hirschsprung disease in their practice and should under-
stand the disease and its management. PAs should be
prepared to advocate for their patients, recognize problems,
order appropriate testing, and communicate with special-
ists to optimize care. JAAPA
Earn Category I CME Credit by reading both CME articles in this issue,
reviewing the post-test, then taking the online test at http://cme.aapa.org.
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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