A Guide to Hirschsprung’s Disease

Medically Reviewed By Karen Gill, M.D.
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Hirschsprung’s disease, also simply called Hirschsprung disease, is a congenital condition characterized by the absence of some nerve cells in the intestines. Due to these missing cells, the intestines cannot move stool normally. Experts estimate that Hirschsprung disease affects around 1 in 5,000 newborns. The condition may require surgical correction and ongoing treatment for complications.

Read on to learn more about the types, causes, symptoms, and treatments for Hirschsprung disease.

What are the types of Hirschsprung’s disease?

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There are five major types of Hirschsprung disease, differentiated by the areas of the intestines that have missing nerve cells:

  • Short-segment Hirschsprung disease: In this type, nerve cells are missing from the rectum. The lower part of the colon called the sigmoid colon may also be affected.
  • Long-segment Hirschsprung disease: In this type, the rectum and a larger segment of the colon are affected.
  • Total colonic Hirschsprung disease: Nerve cells are absent from the rectum and the entire colon in this type.
  • Small intestinal Hirschsprung disease: This type involves the rectum, colon, and the end of the small intestine.
  • Total intestinal Hirschsprung disease: In this type, nerve cells are missing from the rectum, colon, and most or all of the small intestine.

According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), most children have the short-segment form of the disease.

What are the causes of Hirschsprung’s disease?

Hirschsprung disease results from certain genetic mutations. The gene most commonly involved in the development of the condition is the RET gene. This gene influences the production of a protein that contributes to signaling within certain kinds of cells, including the nerve cells of the intestine.

When a mutation in the RET gene occurs, the body produces nonfunctional versions of the protein. This causes the nerves in the intestine to develop improperly.

Other genetic mutations can lead to Hirschsprung disease, such as mutations in the ENDRB and EDN3 genes. These mutations also contribute to the atypical development of nerves in the intestine. In some cases, Hirschsprung disease may result from a chromosomal abnormality or genetic syndrome.

The symptoms of Hirschsprung disease result from the lack of nerve cells in different parts of the intestines. In an affected individual, stool moves through the intestines until it reaches the part where nerve cells are missing. The stool then slows down or stops altogether.

What are the symptoms of Hirschsprung’s disease?

For newborns, one of the initial symptoms of Hirschsprung disease is failure to pass the meconium within the first 1–2 days after birth. The meconium is a substance typically present in the intestine at birth and is usually the first post-birth bowel movement.

Infants with Hirschsprung disease may also experience:

According to the NIDDK, older infants and children may show signs of:

  • chronic constipation that does not respond to oral laxatives
  • swollen abdomen
  • malnutrition
  • weight gain that is below what is expected
  • symptoms of complications, such as diarrhea

Adults may also experience chronic constipation that is resistant to oral laxatives. Abdominal swelling may be present as well.

How do doctors diagnose Hirschsprung’s disease?

To diagnose Hirschsprung disease, doctors will perform a physical exam and assess the symptoms present. Certain tests can then help confirm a diagnosis.

One of the main tests for Hirschsprung disease is a suction biopsy of the rectum. Microscopic examination of the affected tissue will reveal the absence of the nerve cells involved in the disease.

Other tests may include:

  • abdominal X-ray, which may show an intestinal obstruction
  • anorectal manometry, which uses balloons and pressure sensors to evaluate how well the rectum is functioning
  • barium enema, which involves swallowing a substance that will make the intestines appear more clearly on an X-ray

Doctors typically diagnose Hirschsprung disease in the first 2 months after birth, although less severe cases may not be identified until later in life.

What are the treatments for Hirschsprung’s disease?

In almost all cases, Hirschsprung disease treatment will involve surgery. Doctors commonly perform a surgery called a pull-through procedure, which involves removing the section of the intestine that is missing nerve cells. Doctors then connect the healthy remainder of the large intestine to the anus.

For some children who are experiencing complications, doctors may recommend ostomy surgery prior to a pull-through procedure. Ostomy surgery involves creating a stoma, or an opening in the abdomen, and connect it to the large or small intestine. The stoma creates another way for waste to leave the body.

After the healthy intestine is reconnected to the anus, doctors can then close the stoma to allow waste to move through the intestines as usual.

If the affected individual experiences complications after surgery, additional treatment may be necessary.

What is the outlook for people with Hirschsprung’s disease?

Many children feel better after surgery to treat Hirschsprung disease. However, experts estimate that around half of children may experience ongoing complications.

Receiving appropriate treatment for Hirschsprung disease and its complications is essential to improving quality of life.

What are potential complications of Hirschsprung’s disease?

Hirschsprung disease can cause potentially severe complications. The most common complication is Hirschsprung-associated enterocolitis, which causes intestinal inflammation. It can develop before or after surgery.

Symptoms of Hirschsprung-associated enterocolitis include:

This complication can be life threatening and requires immediate medical treatment.

Other possible complications of Hirschsprung disease include:

  • megacolon, or severe constipation and intestinal swelling
  • a hole in the wall of the intestine
  • malnutrition
  • other bowel control issues

What are the risk factors for Hirschsprung’s disease?

Potential risk factors for Hirschsprung disease include:

  • being male assigned at birth, as males are 3–4 times more likely to develop the disease than females
  • having a family history of Hirschsprung disease
  • having Down syndrome or other genetic syndromes

Other frequently asked questions

Here are a few other common questions about Hirschsprung disease. Karen Richardson Gill, MD, has reviewed the answers.

Does Hirschsprung disease affect life expectancy?

While life expectancy is typically normal for people with Hirschsprung disease who receive treatment, its complications can be life threatening. In addition, the condition can contribute to a lower quality of life.

At what age is Hirschsprung disease diagnosed?

Doctors typically diagnose Hirschsprung disease within the first 2 months after a baby is born, although some people with less severe symptoms may receive their diagnosis later in life.

Summary

Hirschsprung disease is a congenital condition that affects the ability to move stool through the intestines normally. Common symptoms include constipation, abdominal swelling, and poor weight gain.

Doctors typically use a rectal biopsy to diagnose the condition. Treatment almost always involves surgery.

Contact your doctor to discuss the best way to treat Hirschsprung disease and manage complications.

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Medical Reviewer: Karen Gill, M.D.
Last Review Date: 2022 Oct 27
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