Hirschsprung's Disease

What is Hirschsprung's disease?

Hirschsprung’s disease, often referred to as HD, is a rare genetic condition which affects the bowel, specifically affecting nerve cells known as ganglion cells. In a person with Hirschsprung’s disease, the ganglion cells, which help to control the muscles in the bowel that push the contents of the intestine along, are absent. Hirschsprung’s disease almost always affects the lower portion of the bowel and often the rectum is also affected. The disease was first discovered in 1886 by a Danish doctor called Harald Hirschsprung. Hirschsprung’s disease is rare and only affects around 1 in 5,000 babies and is more common among boys.

What causes Hirschsprung’s disease?

The exact cause of most cases of Hirschsprung’s disease is unknown, but it occurs when the nerve cells do not develop properly, causing there to be a shortage of cells in the lower bowel. In around 25% of cases there is an identifiable genetic defect and there may be family history of the condition. In the remaining 75% of cases the cause is unknown.

Symptoms of Hirschsprung’s disease

In many cases, symptoms develop after a couple of days in newborn babies as a result of failing to open their bowels within 48 hours and include distension in the abdomen and vomiting. The vomit is usually green because it contains bile, which should have passed through the bowel. Bacteria gathering in the unaffected area of the bowel (the upper section) can also cause inflammation (this is known as enterocolitis) and, in rare cases, septicaemia which can be very serious and should be treated as quickly as possible. Symptoms of enterocolitis include:

• Lack of interest in feeding.
• Distended tummy.
• Vomiting (usually green in colour).
• Fever.
• Offensive smelling watery stools.
• Dehydration (which can make babies floppy and pale).

Constipation in newborn babies can be symptomatic of Hirschsprung’s disease, but the condition is very rare and most babies with constipation will not be diagnosed with HD.

How is Hirschsprung’s disease diagnosed?

There are two main ways of diagnosing Hirschsprung’s disease. These include taking a biopsy (a sample of tissue) from the rectum and an X-ray examination of the lower portion of the bowel. The biopsy sample is sent to the laboratory for analysis by a pathologist. In order for doctors to be able to see the X-ray images of the bowel clearly, a barium enema will be used to help make the images clearer. A test called anal manometry may also be used to measure the pressure inside the rectum.

Treating Hirschsprung’s disease

The main treatment for Hirschsprung’s disease is surgery, which is required to either remove or bypass the affected portion of the bowel. Before surgery additional measures will also be taken, including stopping milk feeds, inserting a tube into the stomach to help drain fluid away, putting the baby on a drip and washing out the bowel. Bowel washouts are designed to compress the bowel, ease pain and remove stools and air. Bowel washouts help to reduce the risk of the bowel becoming inflamed.

While they are waiting for surgery, babies may be required to stay in hospital or visit the hospital on a daily basis for bowel washouts.

The main procedure used to treat Hirschsprung’s disease is known as a pull through, which involves removing the affected part of the bowel and connecting the healthy section to the anus. The procedure is usually carried out when the baby is still young. In some cases, the operation can be carried out laparoscopically (known as keyhole surgery) and most babies stay in hospital for around 5-7 days after. Surgery is an effective treatment in around 80% of cases.

Are there any long-term effects of Hirschsprung’s disease?

There is a risk of long-term problems for children with Hirschsprung’s disease. These include:

• Difficulty toilet training.
• Diarrhoea.
• Constipation.
• Abdominal pain.

Children with Hirschsprung’s disease will be cared for by a team of professionals and advised to attend regular follow-up appointments after surgery. This is so the team can monitor their condition and treat any problems or symptoms. Specialist help for parents is also available and many parents find it helpful and comforting to talk to other parents of children with HD. Children will also have access to information and support as they grow up and psychological support is available in addition to medical care.