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Patient education: Hirschsprung disease (The Basics)

Patient education: Hirschsprung disease (The Basics)

What is Hirschsprung disease? — Hirschsprung disease ("HD") is a condition that stops or slows the movement of food and waste through the bowels. It is caused by a problem with the nerve cells in the rectum or colon (the lower part of the bowels) (figure 1). Children who have HD cannot have normal bowel movements or have fewer bowel movements than normal. This causes the waste from their body to build up in their bowels. HD can cause a swollen belly, vomiting, and other symptoms.

In a healthy person, the muscles that surround the bowels squeeze and relax. This pushes food and waste through the bowels and eventually leads to a bowel movement. In people with HD, part of the bowel does not work correctly. It cannot relax to let things move along. This causes food and waste to get stuck.

People with HD were born with it. Doctors usually find it soon after a baby is born. Sometimes, doctors do not find it until the child is older. This can happen when HD causes only mild symptoms. People with Down syndrome are more likely to have HD than other people.

HD can cause inflammation in the bowel that can be very serious. It can even cause death if it is not treated.

What are the symptoms of HD? — In newborn babies, symptoms can include:

A swollen belly

Not being able to have a bowel movement – By the time they are 2 days old, most babies have at least 1 bowel movement. If a baby does not have a bowel movement by then, they might have HD.

Vomiting

HD can cause bowel inflammation. This can be life-threatening. It can happen before the doctor finds out that a baby has HD. It can also happen after the baby has surgery to fix the HD.

Symptoms of bowel inflammation can include:

Fever

Vomiting

Very smelly diarrhea – It might have blood in it.

Belly pain, swelling, or both

A few people with HD have mild symptoms. These can include:

Constipation – This can cause trouble having a bowel movement, painful bowel movements, or very few bowel movements. Constipation caused by HD might happen often and last a long time. But most constipation in children is not caused by HD.

A swollen belly

Gaining less weight or growing less than normal (for babies and children)

Should I see a doctor or nurse? — See a doctor or nurse right away if your child has symptoms of bowel inflammation.

Are there tests for HD? — Yes. There are several tests doctors can do, but they might not all be needed. The doctor will do an exam and then decide if tests are needed.

Tests can include:

Belly X-ray

Rectal biopsy – A doctor takes a small sample of tissue from inside the rectum (the part of the bowel right inside the body). Another doctor looks at the sample under a microscope to check for HD.

Barium enema – A doctor squirts a fluid that shows up on an X-ray into the rectum. Then, they do an X-ray to look for HD.

Manometry – This measures the pressure at different places inside the rectum. It can tell the doctor if the muscles and nerves that control bowel movements are working right.

How is HD treated? — Doctors treat HD by doing surgery to take out the part of the bowel that is not working normally.

Can my child live a normal life after treatment? — Probably. Most children and adults who have surgery to treat HD live normal lives, but they can have bowel problems. These can include:

Not being able to control bowel movements

Constipation

Bowel inflammation – This can happen before or after HD surgery. It is very important to watch for symptoms of bowel inflammation, and see a doctor or nurse if they happen.

More on this topic

Patient education: Constipation in children (The Basics)
Patient education: Constipation in adults (The Basics)
Patient education: Irritable bowel syndrome (The Basics)

Patient education: Constipation in infants and children (Beyond the Basics)
Patient education: Constipation in adults (Beyond the Basics)
Patient education: Irritable bowel syndrome (Beyond the Basics)

This topic retrieved from UpToDate on: Jun 02, 2024.
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