Hirschsprung's disease is a rare condition that prevents a person from pooping normally. Babies with Hirschsprung's are missing the nerve cells needed to push digested food out of their colon (the last part of the large intestine). Poop can get stuck in the intestine and cause constipation, a blockage, or an infection.
Other names for Hirschsprung's disease are:
- Aganglionic megacolon
- Congenital intestinal aganglionosis
- Congenital megacolon
- HSCR
Pooping usually begins on the first day of a baby's life. A newborn's first stool is called the meconium. But some babies have trouble pooping. If a baby can't have a bowel movement, they may have Hirschsprung's disease.
Hirschsprung's disease is named after the 19th-century Danish doctor Harald Hirschsprung, who described the condition in 1888. It affects about 1 out of every 5,000 newborns and is congenital, which means that it develops during pregnancy and is present at birth. Some congenital conditions happen due to the mother's diet or an illness during pregnancy. Others happen because of genes the parents pass on to the newborn.
Researchers don't know why some people have Hirschsprung's disease. They believe the disease is related to flaws in DNA instructions. Though Hirschsprung's disease can be life-threatening, surgery can fix the problem and help many children live normal, healthy lives.
Types of Hirschsprung's Disease
Doctors divide Hirschsprung's disease into two main types based on which parts of the intestine are missing nerve cells.
Short-segment Hirschsprung's disease
In this type, the colon is missing nerve cells. About 80% of people with Hirschsprung's disease have short-segment Hirschsprung's disease. It's about four times more common in babies assigned male at birth (AFAB) than in those assigned female at birth (AMAB).
Long-segment Hirschsprung's disease
This less common type affects males and females equally. Long-segment Hirschsprung's disease is more severe because nerve cells are missing from most of the large intestine. Rarely, the entire large intestine and part or all of the small intestine lack nerve cells.
Hirschsprung's disease in adults
About 95% of children with Hirschsprung's disease are diagnosed by age 1. Rarely, the condition may go undiagnosed until the teen or adult years, as it looks like chronic constipation. In such cases, Hirschsprung's is typically discovered with imaging tests only when severe constipation or a blockage develops. Older children and adults may manage their symptoms with laxatives and enemas.
What Causes Hirschsprung's Disease?
Hirschsprung's disease typically starts in the early months of pregnancy. Usually, as the baby develops, nerve cells are created throughout the entire digestive system, from the esophagus — which leads from the mouth to the stomach — all the way to the rectum. Normally, a person will have up to 500 million of these types of nerve cells. Among other roles, these cells move food through your digestive system.
In a baby with Hirschsprung's, the nerve cells stop growing at the end of the large intestine, just before the rectum and anus. In some children, the cells are also missing from other places in the digestive system. Without these nerve cells, the body can't sense when poop reaches a certain point in the intestine. The poop gets stuck and forms a blockage.
Is Hirschsprung's disease genetic?
Gene changes called mutations sometimes cause Hirschsprung's disease. Parents who carry the code for Hirschsprung's disease in their genes, especially mothers, may pass it on to their children. But the genetic factors behind this disease are complicated.
Sometimes, a mutation to one gene causes Hirschsprung's. In other cases, mutations in several genes are to blame. The genes that are involved code for the production of Hirschsprung's disease proteins that play different roles in the body.
Most often the change is to the ret proto-oncogene (RET) gene. This gene is essential for the development of nerve cells, including those in the intestines. Other genes that are important for making nerves in the intestine are:
- Endothelin receptor type B (EDNRB)
- Endothelin 3 (EDN3)
In about half of children with this condition, the genetic cause is unknown. Children with other congenital conditions, such as Down syndrome and heart defects, are more likely to have Hirschsprung's disease.
Hirschsprung's Disease Symptoms
For most people with Hirschsprung's disease, symptoms begin within the first six weeks of life. In many cases, there are signs within the first 48 hours.
You may see swelling in your child's abdomen. Other symptoms include:
No bowel movements. A newborn should produce poop or meconium in the first couple of days. Older children with Hirschsprung's may have chronic (long-term) constipation.
Bloody diarrhea. This is a sign of enterocolitis, a life-threatening infection of the colon. Other symptoms of the infection are severe diarrhea and gas.
Vomiting. The vomit may be green or brown.
In older children, symptoms may include growth problems, fatigue, and severe constipation.
Hirschsprung's Disease Diagnosis
Tell your doctor if your child has symptoms of Hirschsprung's disease. The doctor can diagnose it with tests such as:
Contrast enema. Also called a barium enema, this test uses dye to coat and highlight the inside of the body's organs. Your child is placed face down on a table while the dye is inserted via a tube from the anus into the intestines. The test doesn't require anesthesia (a medication to numb or block pain). The dye allows the doctor to see problem areas on X-rays. Contrast enema is done as part of a "lower GI series," a group of tests on the gastrointestinal tract.
Abdominal X-ray. This can show whether something is blocking the intestines.
Biopsy. Your doctor will take a small sample of tissue from your child's rectum to check for signs of Hirschsprung's. Depending on your child's age and size, the doctor may use anesthesia.
Anorectal manometry. This test inflates a small balloon inside the rectum to see how well the muscles are working. This test is done only on older children.
Hirschsprung's Disease Treatment
Hirschsprung's disease is a very serious condition. But if it's found and treated quickly, your child can live a normal life.
Doctors will usually do one of two types of surgery:
Pull-through procedure. This surgery removes the part of the large intestine that lacks nerve cells. Then, the surgeon connects the rest of the intestine to the anus.
Ostomy surgery. This surgery connects the intestine to an opening in the belly. The doctor then attaches an ostomy bag to the outside of the opening to hold waste from the intestine. Ostomy surgery is usually a temporary measure until the child is ready for the pull-through procedure.
Possible postsurgery complications
Surgery can help kids with Hirschsprung's disease poop normally and have a better quality of life. But after the procedure, some children may have problems such as constipation, diarrhea, or incontinence (lack of control over bowel movements or urination). Some postsurgery complications can be serious.
Hirschsprung-associated enterocolitis. After surgery, some children develop inflammation in the intestines called enterocolitis. "It's severe diarrhea that can lead to dehydration and often requires admission to the hospital," says Marc Levitt, MD, chief of the Division of Colorectal & Pelvic Reconstruction at Children's National Hospital in Washington, DC. "In rare circumstances, this condition can even be fatal."
If your child has symptoms such as rectal bleeding, a fever, vomiting, or a swollen belly, take them to the hospital right away.
Fecal incontinence. About 40% of children who have a pull-through procedure lose control over their bowel movements, which is called fecal incontinence. This happens either because they can't feel the urge to poop, or the anal sphincter muscle that helps the rectum open and close gets stretched during surgery. Ways to relieve symptoms include:
- Biofeedback to regain control over bowel movements
- Pelvic physical therapy to strengthen the muscles that control pooping
- A diet high in fiber and grains to stop diarrhea
- Laxatives and enemas to relieve symptoms
Blockage. After the pull-through procedure, up to 30% of children get a blockage in their intestines. This causes symptoms such as:
- A swollen belly
- Bloating
- A rumbling or gurgling sound in the belly
- Vomiting
- Severe constipation
- Trouble pooping
If this happens, the surgeon may need to redo the pull-through procedure. Botulinum toxin is another treatment that relaxes the sphincter muscle to relieve symptoms of a blockage.
Hirschsprung's Disease Life Expectancy
After surgery, most children with Hirschsprung's disease can poop normally and regain control over their bowels. Others continue to have bowel issues such as incontinence and GI symptoms as they get older, and they may need more surgeries. Hirschsprung's is a lifelong condition that needs regular monitoring.
Takeaways
Children with Hirschsprung's disease lack nerve cells in the intestines that they need to poop normally. It usually affects babies and children under age 5. The main treatment is surgery to remove the part of the intestine with the missing nerve cells. After surgery, many children with Hirschsprung's are able to have normal bowel movements.
Hirschsprung's Disease FAQs
Can Hirschsprung's cause death?
Untreated Hirschsprung's disease can lead to enterocolitis, which is a life-threatening condition.
What foods should Hirschsprung's patients avoid?
Children with Hirschsprung's may want to avoid low-fiber foods, such as white bread and pasta, because these foods can worsen constipation.
At what age do you need surgery for Hirschsprung's disease?
Most children are diagnosed in the first month of life. "Surgery can take place either in the newborn period or if the patient and family can do rectal irrigations [using salt water to flush out poop], the surgery can be done at age 3 to 4 months," Levitt says.
What is the recovery time for Hirschsprung's disease surgery?
Children stay in the hospital for three to seven days to recover from surgery. The typical recovery time is about one week until they pass gas, poop, and start eating a normal diet again.