Hirschsprung disease

Other family members may need testing for Hirschsprung disease depending on how it was inherited. If Hirschsprung disease is sporadic, meaning there is no clear genetic link, then it is likely that no one else in the family will need testing. If there is evidence that Hirschsprung disease was caused by a specific gene, other family members may need genetic testing, such as parents of the patient, the patient’s siblings, and the patient’s future children. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. If Hirschsprung disease is present because it is associated with a syndrome, check with your physician or genetics team to see if testing is necessary for other members of the family.

To find other patient’s and families with Hirschsprung disease start by asking your medical team for local resources. You may also want to join a support group, such as this one through Hirschsprung’s & Motility Disorders Support Network (HMDSN):http://hirschsprungs.info/Index.php.

The time that your child will be able to come home after surgery for Hirschsprung disease varies by surgeon and hospital, but a child will usually be able to go home when they are eating normally, going to the bathroom normally, and do not have a fever. Speak with your child’s surgeon about when your child will be able to leave the hospital or surgery center.

Someone with Hirschsprung disease will most likely have to see a surgeon to remove the part of the colon that does not contain nerves. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. If constipation or incontinence occurs after surgery, the patient may need to see a gastroenterologist, who treats issues with the stomach and intestines. They may need a laxative or rectal therapies. It also may help to increase the amount of fiber you’re getting through your diet. To find a surgeon or gastroenterologist speak with your or your child’s physician for a referral.

The "pull-through" procedure for Hirschsprung disease involves removing the part of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), that does not have nerves and reconnecting it to the healthy part to the rectum that does have nerves. People that have had this procedure will have to learn how to use their rectum. During this time, it is common to have leakage. They also may have diarrhea after surgery, but the stool should become harder. Younger children may get diaper rash. Speak with your or your child’s physician or surgeon to learn about what to expect after surgery.

After surgery for Hirschsprung disease gas and stool are no longer trapped in the colon, and there is usually a sense of relief. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. For older children who have an ostomy, a procedure that involves removing part of the colon and reconnecting the colon to the abdomen, the opening in their abdomen may be embarrassing and make them feel different from their friends. They will also have to learn how to care for the opening and manage the pouch it empties into. There are special nurses called ostomy nurses that can help. Speak with your child’s physician about helping your child to manage their ostomy or for a referral to an ostomy nurse in your area.

A surgeon should discuss specific risks of the surgery and post-surgery care with the person or parents of the child undergoing surgery for Hirschsprung disease before they do the surgery. This is a great time to discuss complications and possible therapies for those complications. After surgery, the patient is at risk and should be monitored for an inflamed colon and for infection. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. Signs of infection include fever, vomiting, large abdomen, and less energy. There is also a risk that the colon will tear or rupture. As with any surgery, there is a risk of bleeding.

Depending on how much of the colon is removed, the patient may have short bowel syndrome. Because the bowel or colon is shorter, the patient may not be able to absorb as much fluid and nutrients as before. If the patient does not consume more water and food, they may become malnourished or dehydrated.
About 5% of people who have this surgery will experience severe incontinence or constipation.

The best kind of diet to have after surgery for Hirschsprung disease would be a question to discuss with your doctor or nutritionist. Often those who had long-segment Hirschsprung disease will need to drink more water. Because a large segment of the colon is missing, the body will not be able to absorb as much fluid as before. Extra water will help the body hydrate like before the surgery. In addition, eating lots of fiber will help with digestion and clearing the stool, which reduces diarrhea and constipation. In babies, it may be necessary to insert a tube through the nose or through an opening in the abdomen. This takes food directly to the stomach.

Hirschsprung disease can be abbreviated HSCR or HD.

Hirschsprung disease can either be isolated or syndromic. Isolated Hirschsprung disease is found in a child or infant who does not have other serious health conditions. Isolated Hirschsprung disease can be sporadic, meaning the cause is unknown, or can be inherited, meaning a specific gene change is causing Hirschsprung disease. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body.

If Hirschsprung disease is inherited, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means that a person only needs one copy of the affected gene from a single parent to have Hirschsprung disease. If a parent has a gene change causing autosomal dominant Hirschsprung disease there is a 50% chance it will be passed to each child causing the child to have Hirschsprung disease. Autosomal recessive means a person must have two copies of an affected gene, one from mom and one from dad, in order to have the condition. If each parent carries a gene change causing autosomal recessive Hirschsprung disease there is a 25% chance that each child will have Hirschsprung disease. The type of inheritance depends on the gene.

In some children and infants Hirschsprung disease is part of a larger syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. Some syndromes that can include Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, congenital central hypoventilation syndrome and Down syndrome or Trisomy 21. These conditions may have other inheritance patterns and risks for having Hirschsprung disease.

To learn more about inheritance of Hirschsprung disease speak with your physician or a genetic counselor. To locate a genetic counselor near you use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

The risk of having another baby with Hirschsprung disease after already having had one child with Hirschsprung disease depends on the cause. If a dominantly inherited gene is the cause, then there is a 50% chance of passing it on to each child conceived. If a recessive gene is the cause, then a person and their partner have a 25% chance of passing Hirschsprung disease to each child. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body.

If Hirschsprung disease is sporadic or syndromic, check with your genetics team on the risk of having another child with Hirschsprung disease. If the cause is unclear, then the risk of the next child having Hirschsprung disease is increased from the general population. Check with your healthcare team to find out your individual risk.

Hirschsprung disease is a condition of the colon usually diagnosed in infancy. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. In Hirschsprung disease the affected person is unable to use muscles in the large intestine, so stool, or fecal matter, cannot be pushed out. This disease usually requires surgery to remove the affected part of the colon. Without surgery, Hirschsprung disease can be life-threatening.

Before surgery, infants with Hirschsprung disease may be unable to pass stool, including the meconium (the baby’s first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the baby may grow slowly, gain less weight than peers, and have a swollen belly.
After it is treated, there may be constipation, inability to pass stool, or inability to control stool so it is released unexpectedly, called incontinence.

Hirschsprung disease can occur on it’s own or as part of a larger genetic syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. For example Hirschsprung disease can be seen in people diagnosed with Down syndrome, also called Trisomy 21.

Hirschsprung disease is usually first diagnosed by an infant or child’s family physician or pediatrician. If you are concerned that your child may have Hirschsprung disease speak with their physician about how to diagnose this condition.

Before surgery, infants and children with Hirschsprung disease may be unable to pass stool (fecal matter), including the meconium (the baby’s first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the infant or child may grow slowly, gain less weight than other children thier age, and have a swollen belly. After surgery, watch for constipation (being unable to pass stool) or inability to control stool so it is released unexpectedly, called incontinence.

If you or your child are experiencing any of these symptoms speak with your physician or a gastroenterologist about these symptoms and whether this may be due to Hirschsprung disease.

When a gene mutation causing Hirschsprung disease (HSCR) occurs ganglia, or nerve cells, do not connect to the colon like they are supposed to. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. When nerve cells do not connect to the colon, infants and children with HSCR cannot move the muscles of the colon. Without movement, waste products cannot travel through the colon to be released. This causes the symptoms of HSCR including failure to pass stool, diarrhea, vomiting and trouble gaining weight or growing. If your infant or child is having symptoms of HSCR speak with their doctor about HSCR and how to make a formal diagnosis.

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. There are up to 12 different genes that are associated with isolated Hirschsprung disease, (Hirschsprung disease that is found on it’s own and not part of a larger condition). These genes include RET, GDNF, NRTN, EDN3, EDNRB, ECE1, NRG1, NRG3, SEMA3C, and SEMA3D. Mutations in the RET gene are the most common cause of isolated Hirschsprung disease. RET gene mutations, or changes, cause Hirschsprung disease in a short part of the colon. In order to learn more about genetic testing for Hirschsprung disease speak with your child’s physician about genetic testing or ask to be referred to a genetic counselor.

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. A variant in a gene associated with Hirschsprung disease may or may not result in Hirschsprung disease. This is because Hirschsprung disease has reduced or incomplete penetrance. Reduced or incomplete penetrance means that some people with a gene change or mutation associated with Hirschsprung disease do not have Hirschsprung disease.

To learn more about genetic changes causing Hirschsprung disease speak with your child’s physician about genetic testing for Hirschsprung disease.

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. A variant in a gene associated with Hirschsprung disease may or may not result in Hirschsprung disease. This is because Hirschsprung disease has reduced or incomplete penetrance. Reduced or incomplete penetrance means that some people with a gene change or mutation associated with Hirschsprung disease do not have Hirschsprung disease.

To learn more about genetic changes causing Hirschsprung disease speak with your child’s physician about genetic testing for Hirschsprung disease.

Before surgery, people with Hirschsprung disease may be unable to pass stool (fecal matter), including the meconium (the baby’s first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the baby may grow slowly, gain less weight than other children the same age, and have a swollen belly.

After Hirschsprung disease is treated, there may be constipation, inability to pass stool, or inability to control stool so it is released unexpectedly, called incontinence.

If your infant or child has any of these symptoms please speak with your physician about making a diagnosis of Hirschsprung disease.

Hirschsprung disease is characterized by both incomplete penetrance and variable expression. Incomplete penetrance means that some people with a gene change or mutation associated with Hirschsprung disease (HSCR) do not have HSCR. Variable expression means that people with a gene change or mutation may have different symptoms than others with the same change or mutation. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. If you have further questions about variable expression and incomplete penetrance in Hirschsprung disease speak with your physican or a genetic counselor. To locate a genetic counselor near you use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

One of the defining features of Hirschsprung disease is vomiting bile, which is a green substance that helps break down fats and is made in the gall bladder. The gall bladder is a small organ that stores bile after it has been made by the liver and before it is released into the intestines. Vomiting bile is a symptom of other diseases as well, so the doctor will ask about other symptoms to diagnose Hirschsprung disease. If you or your child are vomiting bile contact your physician.

Hirschsprung disease is not included in the newborn screen done for all new babies. However, a biopsy can be taken from a newborn to diagnose the disease. If your child displays symptoms of Hirschsprung disease such as inability to pass stool (fecal matter), vomiting, or diarrhea, speak to their physician about a possible diagnosis of Hirschsprung disease.

There is more than one test to diagnose Hirschsprung disease. In addition to a biopsy of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), a doctor may do an x-ray of the abdomen, measure how big the rectum is, and/or perform a barium enema which is a special x-ray of the the colon and rectum. For more information on these diagnostic tests speak with your physician or a gastroenterologist.

There is current research on Hirschsprung disease. The active studies can be found at: https://clinicaltrials.gov/ct2/results?term=hirschsprung&Search=Search

In someone with Hirschsprung disease, if surgery is not performed soon enough, the colon (the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum), can become very enlarged and rupture. This can be very dangerous and if not treated can cause someone to die. This is why Hirschsprung disease almost always requires surgery. The most common cause of death in young people with Hirschsprung disease is enterocolitis, or infection of the intestines. It important to look out for signs of infection, such as fever, vomiting, less energy, and a large belly. If you are concerned that you or your child are experiencing any of these symptoms contact your physician right away.

Yes there is treatment for Hirschsprung disease which usually requires surgery on the colon. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The surgery involves removing the part of the colon without nerve cells and connecting the ends of the normal colon, the colon with nerve cells, together. If you have questions about the surgery to treat Hirschsprung disease speak with your or your child’s physician, or ask to speak with a surgeon who preforms the surgery.

Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. Changes or mutations in genes associated with Hirschsprung’s disease cause the condition, but not all people with a gene or mutation change will have Hirschsprung disease. The genes associated with causing isolated Hirschsprung’s disease, Hirschsprung’s disease that is not part of a larger syndrome, are RET, GDNF, NRTN, EDN3, EDNRB, ECE1, NRG1, NRG3, SEMA3C, and SEMA3D. Most often the gene changes or mutations are seen in the RET gene.

The genetics of Hirschsprung’s disease likely are complicated. In some cases Hirschsprung disease may be caused by a single gene change or mutation, but in other cases it is believed that there are several genes working together to cause Hirschsprung’s disease and no single gene change can be identified.

If you are concerned that you or your child may have a predisposition for Hisrschsprung disease speak with your physician about this risk, or ask to be referred to a genetic counselor to discuss genetic testing. You can locate a genetic counselor in your area by using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

If you have Hirschsprung disease your doctor should know that surgery is usually required to treat Hirschsprung disease. They should also know to look out for signs of constipation and incontinence after the surgery is performed.

Hirschsprung disease only affects the nerve cells in the colon, not in the brain, so people with the disease usually have normal intellectual capacity. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The exception to this is if an individual has Hirschsprung Disease as part of a genetic syndrome that includes intellectual disability. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. If you are concerned that you or your child may have Hirschsprung disease as part of a syndrome that includes intellectual disability speak with your or your child’s physician further diagnosis.

If someone with Hirschsprung disease is experiencing constipation after surgery, contact their doctor. They may need a laxative or rectal therapies. It also may help to increase fiber in the diet.

Hirschsprung disease can either be isolated or syndromic. Isolated Hirschsprung disease is found in a child or infant who does not have other serious health conditions. Isolated Hirschsprung disease can be sporadic, meaning the cause is unknown, or can be inherited, meaning a specific gene change is causing Hirschsprung disease. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body.

If Hirschsprung disease is inherited, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means that a person only needs one copy of the affected gene from a single parent to have Hirschsprung disease. If a parent has a gene change causing autosomal dominant Hirschsprung disease there is a 50% chance it will be passed to each child causing the child to have Hirschsprung disease. Autosomal recessive means a person must have two copies of an affected gene, one from mom and one from dad, in order to have the condition. If each parent carries a gene change causing autosomal recessive Hirschsprung disease there is a 25% chance that each child will have Hirschsprung disease. The type of inheritance depends on the gene.

In some children and infants Hirschsprung disease is part of a larger syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. Some syndromes that can include Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, congenital central hypoventilation syndrome and Down syndrome or Trisomy 21. These conditions may have other inheritance patterns and risks for having Hirschsprung disease.

To learn more about inheritance of Hirschsprung disease speak with your physician or a genetic counselor. To locate a genetic counselor near you use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

When surgery is completed to treat Hirschsprung disease most of the time the surgeon will remove the part of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), that does not have nerves and reconnect to the healthy part to the rectum that does have nerves. This is called a "pull-through" procedure. However, if a child has more severe symptoms, it might be necessary to have an additional procedure before the "pull-through" surgery. This is called a colostomy or ostomy. The unhealthy part of the colon will be removed, and the healthy part will be connected to the abdomen to form a stoma, or opening to the outside, allowing the patient to release stool. This surgery is temporary and the child will later require the "pull-through procedure. Both surgeries are done under general anesthesia. To learn more about these surgeries speak with your or your child’s physician or ask for a referral to a surgeon who regularly performs these surgeries.

The colon biopsy to diagnose Hirschsprung disease is normally done without anesthesia and has minor complications, including bleeding or tearing of the rectum. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The rectum is the final portion of the large intestine that connects to the anus. Before the biopsy procedure, it is necessary to clear the colon via laxative or enema. The doctor will insert an instrument into the rectum, which may be uncomfortable. They will then remove a small piece of the colon to examine. If nerve cells are not found in the sample, it means the patient has Hirschsprung disease. To learn more about the biopsy procedure speak with the physician who will be performing the procedure on you or your child.

Donations to Hirschsprung disease research, support and education can be made through Stand Up to Hirschsprungs or REACH:
http://www.reachhd.org/#who-we-are-3
http://standuptohirschsprungs.org/donate/

Donations strictly for research in Hirschsprung disease and other gastrointestinal disorders can be made to the International Foundation for Functional Gastrointestinal Disorders: http://iffgd.org/get-involved/make-a-donation.html

In order to diagnose Hirschsprung disease, a doctor may take a piece of the colon, called a performing a colon biopsy. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. If there are no nerve cells in the colon biopsied, this confirms that a person has Hirschsprung disease.

Genetic testing can also be used to aid in diagnosing Hirschsprung diease. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. Genetic testing involves looking at DNA that makes up genes to identify changes that may be causing conditions like Hirschsprung disease. DNA testing is available for the RET gene which can cause Hirschsprung disease, but is not routinely ordered.

If you are interested in diagnostic testing for Hirschsprung disease for yourself or your child speak with your physician about making this diagnosis.

To find clinical research trials for Hirschsprung disease check with your doctor for resources or refer to this link:[link url=" https://clinicaltrials.gov/ct2/results?term=hirschsprung&Search=Search” target=”_blank”> https://clinicaltrials.gov/ct2/results?term=hirschsprung&Search=Search.

To find a center of excellence in Hirschsprung disease, start by connecting with one of the Hirschsprung support groups and work with them to find a gastrointestinal or gastroenterology center near you. These centers specialize in problems with the stomach and intestine. Your pediatrician or other medical professionals may also have recommendations so speak with them to learn more.

Testing for Hirschsprung disease is usually done by biopsy, or taking a small piece of the colon. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. If a genetic or DNA test for Hirschsprung disease is done on blood or saliva, it may not detect all cases of Hirschsprung disease as some forms of Hirschsprung disease are not genetic or are caused by unknown gene mutations. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. To discuss testing for Hirschsprung disease speak with your or your child’s physician.

The symptoms of Hirschsprung disease can become worse if treatment is delayed. Without clearing and/or removing the affected part of the colon, the colon can tear or become inflamed. An affected person can die if these complications occur.

Surgery is sufficient to treat the initial symptoms of Hirschsprung disease. Before surgery is performed, doctors may have to clear stool (fecal matter) from the patient’s colon so that the colon does not become dangerously enlarged. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. After surgery, a person may experience incontinence or constipation. These can be treated with enemas, stool softeners, laxatives, or stretching of the anus or rectum. To learn about these and other treatments for Hirschsprung disease, speak with your or your child’s physician.

Hirschsprung disease can also be called colonic aganglionosis, congenital megacolon, intestinal aganglionosis, and aganglionic megacolon. To learn if there is another name for Hirschsprung disease that a doctor might use, ask them if they are using another term for Hirschsprung disease or look on a reliable website such as the National Organization for Rare Disorders.

There are several good online support groups such as:

There are forms of Hirschsprung disease that are sporadic, or not inherited. The diagnosis of sporadic Hirschsprung disease means there are probably multiple factors that contribute to causing Hirschsprung disease, not just one gene.

There are two forms of Hirschsprung disease: long-segment and short-segment. About 80% of Hirschsprung disease cases are short-segment and only affect a small part of the colon that connects to the rectum. Long-segment Hirschsprung disease can have worse symptoms because it can affect most of the colon. The colon, or large intestine, is the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum. About 85-90% of people with Hirschsprung disease are diagnosed in infancy, but it can develop later in childhood less frequently in adulthood. To learn more about the different forms of Hirschsprung disease speak with your physician about symptoms and treatments for Hirschsprung disease affecting part or all of the colon.

Hirschsprung disease can be confused with neuronal intestinal dysplasia, chronic intestinal pseudoobstruction, duodenal atresia, duodenal stenosis, Crohn’s disease, diverticulitis, or irritable bowel. All of these diseases involve abnormalities of the colon similar to Hirschsprung disease.

In some cases Hirschsprung disease can also happen as part of a genetic syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. When Hirschsprung disease occurs as part of a syndrome this is called "syndromic" Hirschsprung disease. Some syndromes known to cause Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, Down Syndrome or congenital central hypoventilation syndrome.

If you are concerned that you or your child may have Hirschsprung disease has part of a syndrome ask your doctor for a referral to a genetic counselor or locate a genetic counselor near you using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.