What Is Hirschsprung's Disease?

Overview

Hirschsprung's disease, also known as congenital aganglionic megacolon, is a rare condition that affects the large intestine and causes excrement to get stuck in bowels. It is a congenital disorder, which means it is present at birth, Hirschsprung's disease is usually diagnosed soon after birth as the symptoms are very noticeable and it needs to be treated with surgery as soon as possible to avoid possible complications.^1,2

Excrement moves throughout the bowels as the bowels squeeze. In Hirschsprung's disease, the nerve cells in the wall of the colon are absent, this prevents bowels from squeezing and it leads to the inability of the colon to relax and empty faeces. This results in the buildup of stool and gas in the intestine, causing constipation, discomfort, distension, and other symptoms. It can go as further as developing enterocolitis, which is a bowel infection.³

Types of hirschsprung's disease

Hirschsprung's disease is classified in the bases of the affected colon length. It’s divided into three types, short segment, long segment and total colonic aganglionosis. Short and long segment Hirschsprung's are self explanatory and as the name suggests disease affects a small part or a larger part of the colon respectively. On the total colonic aganglionosis on the other hand, the entire colon is affected.³

Causes of hirschsprung's disease

Hirschsprung's disease occurs due to a failed development of ganglion cells, which are a type of nerve cell that control the muscles of the bowels, during the pregnancy. The exact cause of this failure is not fully understood, it can happen idiopathically (without a cause) but there are also genetic factors that are thought to play a role. 

Hirschsprung's disease is more common in people assigned male at birth (PAMAB) than in people assigned female at birth (PAFAB) and is also more common in children with other congenital disorders, such as down syndrome. Children with a sibling or a parent with Hirschsprung's disease are also more likely to develop it.³

Signs and symptoms of hirschsprung's disease

The signs and symptoms of Hirschsprung's disease vary depending on the severity and the type.^1,3

Signs and symptoms in babies

• Failure to pass the meconium, which is the dark stool that is normally passed within the first 48 hours of life
• Vomiting
• Abdominal distention 
• Problems feeding
• Explosive diarrhoea after medical intervention

Signs and symptoms in older children may include

• Persistant constipation
• Diarrhoea
• Vomiting
• Abdominal pain
• Abdominal distention
• Failure of weight gain
• Fever

Management and treatment for hirschsprung's disease

All children with Hirschsprung's disease have to have surgery as this is the only treatment for the condition. Most commonly the surgery known as the “pull-through” operation will be performed to remove the affected part of the bowels. But in some cases the surgery may have to be done in two steps. This may be the case if the child is not strong enough to endure the full procedure or if they are older than a newborn.¹

In the cases of two part surgery,  first a temporary colostomy will be done to allow the intestine to heal. This is a temporary opening in the abdomen (stoma) in which the stole will pass through. Children will wait until they are well enough for the second stage of the surgery, during which the colostomy will be closed, the affected part of the bowel is removed and the healthy parts of the intestine are reconnected. In some cases, minimally invasive surgery (laparoscopic surgery) may be used.²

Before and after the surgery, patients may require ongoing care to manage bowel movements and prevent constipation. This may involve dietary changes, medication, and regular bowel washouts. In either type of surgery, the patient will stay in the hospital for the following days for postoperative care. ²

Diagnosis of hirschsprung's disease

Hirschsprung's disease is typically diagnosed shortly after birth or in infancy. Several diagnostic tests and imaging will be done in order to reach a diagnosis.⁴

• Physical examination
• Abdominal X-ray
• Barium enema (a procedure that involves drinking a special dye that shows up on x-ray and gives a clear picture of the bowels)
• Rectal suction biopsy (A procedure done by using forceps which are inserted into the anus and a small piece of tissue is taken in order to examine the absence of ganglion cells)

Risk factors

Because the exact cause of Hirschsprung's disease is unknown, risk factors vary. It is understood that family history of Hirschsprung's, Down syndrome or other congenital disorders and PAMAB increases the risk of developing Hirschsprung's disease.³

Complications

The most common complication of untreated Hirschsprung's disease is enterocolitis. This is the inflammation and infection of the bowel and it may even occur after surgery.  Hirschsprung-associated enterocolitis is a life-threatening complication and has to be treated in a hospital. Its signs and symptoms include:³ 

• Further abdominal distention
• Lack of energy
• Fever
• Diarrhoea
• Vomiting
• Rectal bleeding
• Systemic shock

Other complications of Hirschsprung's disease can include: 

• Being unable to hold bowel movements
• Severe constipation
• Malnutrition due to lack of nutrition intake 
• Perforation of the bowels.

FAQs

How common is hirschsprung's disease?

Hirschsprung's disease is a rare condition, occurring in approximately 1 in 5,000 live births.³

How can I prevent hirschsprung's disease?

Currently, there is no known way to prevent Hirschsprung's disease.

When should I see a doctor?

Complications of Hirschsprung's disease can be life-threatening. In some cases the diagnosis of the condition will be made after birth but some complication symptoms can be present after being discharged from the hospital. If your child is experiencing symptoms such as constipation, abdominal distension, or vomiting, you should consult a doctor immediately.  If your child develops a swollen belly, new abdominal pain, a fever or foul-smelling diarrhoea you should go to the A&E immediately.^1,4

Summary

Hirschsprung's disease is an uncommon disorder that affects the colon or large intestine and results in bowel obstructions. It is a congenital disorder that is mainly diagnosed in babies and young children. Hirschsprung's disease occurs due to a failed development of ganglion cells during the pregnancy, which are a type of nerve cell that control the muscles of the bowels. Hirschsprung's disease is typically diagnosed shortly after birth or in infancy. 

The signs and symptoms of Hirschsprung's include swallowed abdomen, unable to pass stool, diarrhoea and vomiting. The only treatment for Hirschsprung's disease is surgery. Most commonly the surgery known as the “pull-through” operation will be performed to remove the affected part of the bowels. Before and after the surgery, patients may require ongoing care to manage bowel movements and prevent constipation. The most common complication of untreated Hirschsprung's disease is enterocolitis and requires immediate medical attention.