What is Hirschsprung's disease and how is it treated?

Medically reviewed by Aaron L Weigmann MD., MS Plastic Surgeon November 28, 2024| Written by Shahid Bashir

What is Hirschsprung's disease and how is it treated?

Hirschsprung’s disease is a congenital condition in which a baby can’t pass stool normally. The stool collects in the colon or large intestine and results in severe constipation-related symptoms

Typically, when the food and waste content reaches the large intestine, it stimulates the nerve cells in the large intestine to relax or contract. This relaxation and contraction of the smooth muscles push the waste out of the body. 

However, in children with Hirschsprung’s disease, the nerve cells thatregulate the colon movement don’t develop properly. This condition is rarely diagnosed in older children or adults. The complications of Hirschsprung’s disease areenterocolitis and toxicmegacolon

Reports show that 1 in every 5000 children born with Hirschsprung’s disease worldwide. This disease is four times more common in male children compared to female children.

What are the Symptoms of Hirschsprung’s Disease?

Since newborn children can’t tell about the symptoms, you have to examine the baby for the signs of Hirschsprung’s disease. Common signs of Hirschsprung’s disease in children are:

  • No bowel movement in the first 48 hours after birth
  • Constipation
  • Swollen Belly
  • Vomiting 
  • Diarrhea

Hirschsprung’s disease is rare in adults. But when it occurs, it can cause the following symptoms:

What are the Causes of Hirschsprung’s Disease?

Hirschsprung’s disease is a congenital condition meaning it develops in the baby at birth without any external cause. It occurs when nerve cells that stimulate the muscles to move stool through the large intestine do not form properly.

We still don’t know exactly what triggers it. However, certain factors increase the risk of Hirschsprung’s disease.

1. Family History

A2023 study shows that a family history of Hirschsprung’s disease can raise the risk of a baby being born with it. Parents can transfer the specific genes linked to the development of nerve cells in the intestines. If a close relative has the condition, the chances of having the disease are higher.

2. Being Male

Males are at a higher risk of developing Hirschsprung’s disease.Reports show that boys are four times more likely to be diagnosed with the condition.

3. Down Syndrome

Babies born with Down syndrome have a higher chance of also having Hirschsprung’s disease. This is because bothconditions are linked to problems in early fetal development.Studies show that around 7% of infants with Down syndrome will also have Hirschsprung’s disease.

4. Other Genetic Disorders

Children with other genetic abnormalities or syndromes are also at greater risk of developing Hirschsprung’s disease. For example, a2015 study shows that conditions like congenital heart defects may coexist with Hirschsprung’s disease.

Is Hirschsprung’s Disease Often Misdiagnosed?

In some cases,Hirschsprung’s disease is misdiagnosed or it goes undiagnosed. This is because a newborn baby can’t relay the symptoms.

When the physical examination and the bowel pattern of a newborn baby hint at Hirschsprung’s disease, the doctors recommend the following diagnostic tests to confirm the condition:

  • Contrast X-ray:While a simple X-ray can show any blockage in the intestine,contrast X-ray is more common for diagnosing Hirschsprung’s disease. Contrast X-ray involves inserting a special type of fluid in the intestine that appears bright on the X-ray.

    As fluid travels within the intestine, the X-ray image on the computer shows the path of the fluid. When there is a blockage in the intestine, fluid starts to accumulate there, which indicates obstruction.
  • Biopsy:Biopsy is the most effective diagnostic tool for Hirschsprung’s disease. In this technique, doctors take a sample from the baby’s intestine and examine it under a microscope for the presence of nerve cells.
    If the nerve cells are absent, it indicates that the baby is suffering from Hirschsprung’s disease.

What is the most common treatment option for Hirschsprung's disease?

The most common treatment options to improve Hirschsprung's disease are:

1. Pull-Through Surgery

Pill-through surgery, as the name suggests, is the removal of the nonfunctional intestine. It is the most common treatment for Hirschsprung's disease, where the part of the intestine that lacks nerve cells is removed. 

The healthy part of the intestine is then pulled down and connected to the rectum. This helps the child pass stools normally.

2. Colostomy

Depending on the condition of the children, acolostomy may be performed before a pull-through surgery. In this procedure, the surgeon creates an opening in the child’s abdomen and connects the healthy part of the colon to this opening. 

The opening is attached to a bag on the outside that receives the waste. A colostomy is usually temporary and gives the bowel time to heal before a later surgery.

3. Ileoanal Anastomosis (J-Pouch)

In more severe cases of Hirschsprung's disease, where a larger part of the colon is affected, the surgeon might preferIleoanal anastomosis. It is the removal of the colon and creating a pouch from the end of the small intestine, which is then attached to the anus. 

This pouch acts like the colon, storing waste before it is passed. This procedure is often done in stages and helps to restore bowel function.

4. Bowel Management Programs

For some children, especially those with less severe forms of Hirschsprung’s disease or those who continue to have symptoms after surgery, doctors may recommend abowel management program.

Bowel Management program consists of a combination of medications, dietary changes, and sometimes enemas to help regulate bowel movements. 

These programs are modified to meet the child's specific needs and are monitored closely by doctors to ensure proper bowel function is maintained.

What is the diet for Hirschsprung's disease?

Dietary changes are an important factor in the management of conditions related to the digestive system, including Hirschsprung’s disease. While you can’t make significant adjustments in the diet of a newborn baby, dietary adjustments can improve this condition in older children and adults.

Foods to Eat in Hirschsprung’s Disease

Older children and adults can add the following foods to their diet to improve Hirschsprung's disease:

1. Vegetables

Vegetables like carrots, spinach, and broccoli are rich in fiber.Studies show that a fiber diet adds volume to stool and makes it soft. Soft stools prevent constipation, which is a common complaint of people with Hirschsprung's disease.

Fiber plays a key role in promoting healthy bowel movements, especially in those with Hirschsprung's disease.Fiber powder is another convenient option for including fiber in your diet. 

See Also: The Crucial Need for Fiber in Our Diets and How Fiber Powders Can Help!

2. Fruits

Fruits like apples (with the skin), pears, and bananas are good sources of fiber, whichhelps prevent constipation. For younger children, you can mash orpuree fruits to make them easier to eat while still providing the fiber needed for digestion.

3. Whole Grains

Whole grains like oatmeal, brown rice, and whole wheat bread are high in fiber and support healthy digestion. Including these in meals helps regulate bowel movements.

For younger children, you can serve whole grains in easy-to-eat forms like porridge or soft, well-cooked rice, which is gentle on their stomachs.

4. Hydrating Foods

Studies show that adequate hydration is essential for preventing constipation. Water-rich foods, such as watermelon, cucumbers, and oranges, help keep stools soft.

Children with Hirschsprung's disease need to stay hydrated to improve bowel function. These foods can be a tasty and refreshing way to increase fluid intake in younger children.

See Also: Shocking Effects of Dehydration - Tips to Up Your Water Game!

5. Healthy Fats

Healthy fats, such as omega-3 fatty acids found in olive oil, avocados, seeds, and fatty fish, can help lubricate the intestines and ease bowel movements.

A study on theassociation between diet andconstipation shows that fats in the diet can soften stools. Soft stools are easier to pass for children with Hirschsprung's disease.

For younger children, mashed avocado or adding a small amount of olive oil to foods can promote easier digestion.

Foods to Avoid with Hirschsprung's Disease

Here are four common foods from the modern diet that you need to avoid in Hirschsprung's disease:

  • Processed Foodslike frozen meals, cakes, and fast food are often low in fiber and difficult to digest. They can lead to constipation and worsen symptoms, so it's best to avoid them.
  • Sugary Snackssuch as candies, cookies, and sodas can worsen a kid’s if he has Hirschsprung's disease.

    A study by the World Journal of Gastroenterology shows that refined sugar can lead to digestive issues and constipation by triggering diabetes. Reducing sugary snacks can help improve bowel function in those with Hirschsprung's disease.
  • Red Meatcan be hard to digest, which may contribute to constipation. It's better to choose lean proteins like chicken or fish for easier digestion.
  • Refined Grainslike white bread and pasta are low in fiber and can contribute to constipation. It's better to opt for whole grain alternatives to improve digestion.

FAQs

1) Is Hirschsprung's disease hereditary?

Yes, Hirschsprung's disease is a hereditary condition, and children are born with it. It is typically diagnosed soon after the birth in most cases. 

2) Is Hirschsprung's disease fatal?

Hirschsprung's disease is usually not severe. However, in severe cases, it can lead to complications such as enterocolitis and toxic megacolon which can be fatal.

3) Is surgery always necessary for children with Hirschsprung's disease? 

Children with Hirschsprung's disease require surgery in most of the cases. This is because no medication can correct the non-functional area of the colon. Removing the non-functional area of the colon with surgery is the only option to maintain regular bowel flow. 

Conclusion

Hirschsprung's disease is a condition where a newborn baby can’t pass stools because of colon failure. It is a congenital condition that occurs due to a lack of nerve fibers that regulate the contraction and relaxation of the colon.

Since Hirschsprung's disease is a congenital condition, you can’t stop its occurrence. However,  management of this condition is possible with the help of different surgeries.

Diet is an essential aspect of the management of Hirschsprung's disease, even after surgery. Eating fiber-rich foods that are easy to process by the digestive system can significantly improve the symptoms.

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