What is Hirschsprung’s disease?

Hirschsprung’s disease is a rare genetic condition, which affects 1 in 5,000 newborn babies, and was first described by a Danish physician, Harald Hirschsprung, in 1886. The underlying abnormality is an absence of nerve cells (aganglionosis) in the wall of the bowel. The lower bowel is always affected, although the disease can occasionally be more extensive. The lack of nerve cells prevents the bowel relaxing to allow the passage of intestinal contents. This usually leads to blockage and constipation.

What are the symptoms?

Newborn babies usually develop symptoms early in life when failure to open their bowels within the first 24-48 hours causes abdominal distension and vomiting. Overgrowth of bacteria in the normal bowel above the diseased area can also cause inflammation (enterocolitis) and even septicaemia (blood poisoning). Sometimes older children, suffering from constipation, are found to have the disease, although there is usually a history of problems dating back to the newborn period. However, it should be stressed that most cases of childhood constipation are not caused by Hirschsprung’s disease.

What causes the disease?

The nervous system of the gut is made up of specialised nerve cells which spread down the bowel from top (oesophagus) to bottom (rectum) as the baby is developing in the womb. Hirschsprung’s disease occurs when nerve cells fail to develop low down, resulting in a lack of nerves in the lower bowel. In approximately 25% of case there is a recognised genetic (inherited) defect causing this and there may be a family history. The cause of the remaining 75% of cases remains unknown.

How is Hirschsprung’s disease diagnosed?

Two main methods are used routinely to diagnose the disease. A piece of tissue is removed from inside the lower bowel (rectal biopsy) and analysed by a pathologist to look for nerve cells. This biopsy is painless and can usually be performed on a ward or in a clinic. An X-ray examination of the lower bowel (contrast enema) is also performed.. Pressures within the rectum can also be measured to provide further information (anorectal manometry).

How is the disease treated?

Hirschsprung’s disease requires surgery to remove or bypass the affected bowel. It is often necessary to perform a colostomy (bringing a piece of bowel to the skin) in the newborn period if the baby is very small or unwell. The main operation can occasionally be performed in the newborn period, or more usually when the child is a bit bigger. Three different operations for Hirschsprung’s disease are performed in the UK according to the surgeon’s preferences and the results are very similar. Approximately 80% of children with Hirschsprung’s disease will achieve good results following surgery. Long term problems can include persistent constipation, incontinence, inflammation and occasionally the need for a permanent colostomy.

Parents of children with long-term problems related to Hirschsprung’s disease can receive advice from the specialist centre treating their child and will often be put in contact with families in similar circumstances for support. Children can find the condition difficult to live with as they grow older and often need understanding and emotional support. Psychological care often forms part of the on-going services provided to such children and their families.