About hirschsprung's disease

What is hirschsprung's disease?

Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with Hirschsprung disease can't pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with Hirschsprung disease are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An Hirschsprung disease diagnosis in an adult is rare.

What are the large intestine, colon, rectum, and anus?

The large intestine, which includes the colon and rectum, is the last part of the digestive tract. The large intestine's main job is to absorb water and hold stool. The rectum connects the colon to the anus. Stool passes out of the body through the anus. At birth, the large intestine is about 2 feet long. An adult's large intestine is about 5 feet long.

Why does Hirschsprung's disease cause constipation?

People with Hirschsprung disease have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine.

  • In a healthy large intestine the nerve cells are found throughout the large intestine.
  • Short-segment Hirschsprung disease. Nerve cells are missing from the last segment of the large intestine.
  • Long-segment Hirschsprung disease. Nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine.

How severe Hirschsprung disease is depends on how much of the large intestine is affected. Short-segment Hirschsprung disease means only the last part of the large intestine lacks nerve cells. Long-segment Hirschsprung disease means most or all of the large intestine, and sometimes the last part of the small intestine, lacks nerve cells.

In a person with Hirschsprung disease, stool moves through the large intestine until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops, causing an intestinal obstruction.

What are the symptoms for hirschsprung's disease?

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth.

Other signs and symptoms in newborns may include:

  • Swollen belly
  • Vomiting, including Vomiting a green or brown substance
  • Constipation or gas, which might make a newborn fussy
  • Diarrhea

In older children, signs and symptoms can include:

  • Swollen belly
  • Chronic constipation
  • Gas
  • Failure to thrive
  • Fatigue

What are the causes for hirschsprung's disease?

It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

What are the treatments for hirschsprung's disease?

Hirschsprung disease is diagnosed based on symptoms and test results.

A doctor will perform a physical exam and ask questions about your child's bowel movements. Hirschsprung disease is much less likely if parents can identify a time when their child's bowel habits were normal.

If Hirschsprung disease is suspected, the doctor will do one or more tests.

What are the risk factors for hirschsprung's disease?

Factors that may increase the risk of Hirschsprung's disease include:

  • Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological children could be at risk.
  • Being male. Hirschsprung's disease is more common in males.
  • Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.

Is there a cure/medications for hirschsprung's disease?

For most people, Hirschsprung's disease is treated with surgery to bypass or remove the part of the colon that's lacking nerve cells. There are two ways this can be done: a pull-through surgery or an ostomy surgery.

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