Hirschsprung's disease overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [3] Aditya Ganti M.B.B.S. [4]
Overview
Hirschsprung's disease involves an enlargement of the colon, caused by bowel obstruction, resulting from an aganglionic section of bowel. The condition in which the normal enteric nerves is absent; begins from anus and progresses proximally. The length of affected bowel varies, rarely extended more than one foot or so.
Historical perspective
The disease is named after Harald Hirschsprung, the Danish physician who first described the disease in 1886; describing two infants who had died with swollen bellies. The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon as the dominant features.
Classification
Hirschsprung's disease may be classified based on the extent of colon involvement: rectosigmoid disease, long segment disease, and ultrashort segment disease.
Pathophysiology
Hirschsprung’s disease is a congenital disorder of colon in which certain nerve cells, known as ganglion cells, are absent; which may lead to chronic constipation. [1]
Causes
Hirschsprung's disease is caused by failure of myentric and submucosal nerve plexuses craniocaudal migration into the distal colon.
Differentiating Hirschsprung's dieases from other diseases
Hirschsprung's disease must be differentiated from other diseases that cause meconium pass failure and also abdominal distension in infants; such as meconium plug syndrome, small left colon syndrome, and congenital hypothyroidism.
Epidemiology and Demographics
The incidence of Hirschsprung's disease is 20 per 100,000 newborns. It is three times more common in Asian Americans. Males are more commonly affected than females.
Risk Factors
The most potent risk factor for Hirschsprung's disease is strong family history (i.e., multiple family members involvement). Other risk factors include: family history of long segment disease running in the family or the probation of being a female.
Screening
According to the USPSTF, screening is not recommended for Hirschsprung's disease.
Natural History, Complications, and Prognosis
If left untreated, Hirschsprung's disease can lead to enterocolitis and even death. Common complications include: enterocolitis, intestinal perforation, and short bowel syndrome. After appropriate surgical intervention, Mortality rate drops significantly.
Diagnosis
History and Symptoms
Hirschsprung's disease is commonly diagnosed during neonatal period. The cardinal symptoms of Hirschsprung's disease include: abdominal distension, delayed passage of meconium (i.e., after 24-48 hours from birth), and vomiting. [2][3]
Physical Examination
Physical examination is nondiagnostic in newborns. It may reveal a distended abdomen and/or anal spasm. In older children, abdominal distension may result from the inability to release flatus.[3]
Laboratory Findings
There are no specific laboratory finding associated with hirschsprung's disease. All the pre-operation blood tests and coagulation tests will be within the reference range.[3]
X-ray
Abdominal x-ray is the modality of choice in diagnosing Hirschsprung's disease. Major finding is decreased bowel caliber of the involved segment along with colon distension.
CT Scan
There are no specific CT scan finding associated with Hirschsprung's disease.
MRI
There are no specific MRI finding associated with Hirschsprung's disease.
Other Imaging Findings
A barium enema is the mainstay of Hirschsprung’s disease diagnosis.
Other Diagnostic Studies
A rectal biopsy showing the lack of ganglion cells is the only certain method of diagnosis.
Treatment
Medical Therapy
Medical therapy only plays a supportive role in the management of Hirschsprung's disease. Medical therapy is indicated to prevent complications of Hirschsprung disease, to prevent infections during reconstructive surgery, and to manage postoperative bowel function. Intravenous fluid resuscitation and maintenance, nasogastric decompression, and administration of intravenous antibiotics (as indicated) remain the cornerstones of initial medical management.[4][5]
Surgery
The usual treatment is pull-through surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells (National Digestive Diseases Information Clearinghouse).
Primary Prevention
There are no primary preventive measures for Hirschsprung's disease.
Secondary Prevention
Diagnosis of Hirschsprung's disease is required to prevent complications. Secondary preventive measures include administration of laxatives to prevent obstruction and administration of antibiotics to prevent infection.
References
- ↑ Worman and Ganiats 1995, Am Fam Physician 51, 487-494 [1]
- ↑ Stanescu AL, Liszewski MC, Lee EY, Phillips GS (2017). "Neonatal Gastrointestinal Emergencies: Step-by-Step Approach". Radiol. Clin. North Am. 55 (4): 717–739. doi:10.1016/j.rcl.2017.02.010. PMID 28601177.
- ↑ 3.0 3.1 3.2 Das K, Mohanty S (2017). "Hirschsprung Disease - Current Diagnosis and Management". Indian J Pediatr. doi:10.1007/s12098-017-2371-8. PMID 28600660.
- ↑ Langer JC, Rollins MD, Levitt M, Gosain A, Torre L, Kapur RP, Cowles RA, Horton J, Rothstein DH, Goldstein AM (2017). "Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease". Pediatr. Surg. Int. 33 (5): 523–526. doi:10.1007/s00383-017-4066-7. PMID 28180937.
- ↑ Burkardt DD, Graham JM, Short SS, Frykman PK (2014). "Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician". Clin Pediatr (Phila). 53 (1): 71–81. doi:10.1177/0009922813500846. PMID 24002048.