Hirschsprungs disease in adults

Aileen Yen FRACS, MS, Colorectal Research Fellow, The Royal Melbourne Hospital, Parkville, Melbourne, VIC

Hirschsprungs disease is a congenital condition of aganglionosis

of the large bowel from the internal sphincters proximally. The
ganglions are absent in the submucosal and myenteric plexus.
The affected length can be variable. Hirschsprungs disease
usually presents at an early age in childhood, raising suspicion
with failure to pass meconium, abdominal distension and even
bilious vomiting in infancy1. The paediatric patient usually gets
referred to a paediatric surgeon who deals with the presenting
problem.
The literature on adult Hirschsprungs patients is not
voluminous, with case reports being prominent. The oldest
Hirschsprungs patient has been reported to be a 54-year-old
physician in the 1950s2. The prevalence of adult Hirschsprungs
disease is unknown but estimated to be 2% of the population3.
Late diagnosis is attributed to the condition being masked
by enemas and laxatives. Seventy-three per cent of adult
Hirschsprung patients have symptoms dating back to childhood.
Adult Hirschsprungs disease is arbitrarily defined as older than
10 years old. A systematic review of adults with Hirschsprungs
disease consists of patients in their 20s and 30s, with an age
range of 11 to 74 years old1; the median age being 24.54.
Adult Hirschsprungs disease can present in emergency
conditions such as functional obstruction, faecal impaction,
megacolon and sigmoid volvulus. Diagnosis is made using a
combination of radiological, physiological and histopathological
investigations. Barium enema not only demonstrates megacolon
and megarectum, but narrow zone in the distal part of the colon
with a proximal, cone-shaped segment is pathognomonic4.
Hirschsprungs patients have an absent rectoanal reflex
demonstrable on manometry. Conventional biopsies are prone to
error, so if the diagnosis remains equivocal, aceytocholinesterase
histochemistry is applied and a 60 mm full-thickness strip is
taken from the dentate line5.

Surgery remains the treatment for Hirschsprungs disease. There

is a range of pull-through operations. Duhamels procedure is
the most commonly used and is seen as the safest option. The
posterior wall of the rectum and the anterior wall of the pulledthrough colon are apposed by a crushing clamp, then GIA
staplers are used to divide and suture the common wall6. The
Swenson procedure involves frozen sections to determine the
level of ganglionated bowel. The aganglionic bowel is resected
and a colo-anal anastomosis is performed7. The rectal mucosa is
removed in the Soave procedure, while retaining the muscular
cuff and a ganglionic segment of colon is anastomosed to the
mucosa of the anal canal8. Other operations such as low anterior
resection, myectomy or anopexy are also used, either as single
or staged operations. The safety and functional outcomes are
beyond the scope of this discussion.
In conclusion, Hirschsprungs disease is often rare in adults but
must be considered in those with lifelong refractory constipation,
no faecal soiling and dependence on enemas and aperients9.
Diagnostic tools include plain x-ray, unprepped barium enema,
anorectal manometry and rectal biopsy. Though the type of
surgery performed is controversial, good long-term outcomes
can be expected in adults with a competent surgeon9.
References
1. Doodnath R & Puri P. A systematic review and meta-analysis
of Hirschsprungs disease presenting after childhood. Pediatric
Surgery International 2010 Aug; 26(11):110710.
2. Rosin JD, Bargen JA & Waugh JM. Congenital megacolon of a man 54
years of age: report of case. Proceedings of the staff meetings. Mayo
Clinic 1950; 25(26):710715.
3. Grove K & Ahlawat SK. Hirschsprung disease in adults. Southern
Medical Journal 2009; 102(2):127128.
4. Vorobyov GI, Achkasov SI & Biryukov OM. Clinical features
diagnostics and treatment of Hirschsprungs disease in adults.
Colorectal Disease 2010 Nov; 12(12):12428.
5. Do MY, Myung S-J, Park H-J et al. Novel Classification and
Pathogenetic Analysis of Hypoganglionosis and Adult-Onset
Hirschsprungs Disease. Digestive diseases and sciences. 2011 Jan;
56(6):181827.
6. Steichen FM, Talbert JL & Ravitch MM. Primary side-to- side
colorectal anastomosis in the Duhamel operation for Hirschsprungs
disease. Surgery 1968; 64(2):475483.
7. Puri P. Swensons Procedure. In: Holschneider A, Puri P (eds)
Hirschsprungs disease and allied disorders. Springer, 2008, pp.
329330.
8. Soave F. A new surgical technique for treatment of Hirschsprungs
disease. Surgery 1964; 56:10071014.
9. Wheatley MJ, Wesley JR, Goran AG, Polley Jr TZ & Smith L (eds).
Hirschsprungs in Adolescents and Adults. Diseases of the Colon
and Rectum 1990; 33(7):622629.

Journal of Stomal Therapy Australia Volume 33 Number 2 June 2013