Hirschsprung disease is also called congenital megacolon, Hirschsprung disease, or aganglionotic megacolon. It is a colon disease. It is named after its discoverer, Harald Hirschsprung, who first described the disease in 1886.
What is Hirschsprung disease?
Hirschsprung’s disease is included in the group of aganglionoses. Aganglionosis describes a congenital disease in which the nerve cells in the intestine are missing. This leads to the fact that the intestine is generally disturbed in its mobility. See homethodology for Hypercapnia Overview.
Hirschsprung disease is congenital and occurs in about 1 in 5,000 newborns. Boys are affected more often than girls. Hirschsprung’s disease is often seen in combination with Down’s syndrome (about 12 percent of those affected also have Hirschsprung’s disease).
Also in connection with other malformations such as cystic fibrosis are rarer, but also occur. Usually only the rectum or the sigmoid is affected, with a total of 40 cm of the intestine being affected in about five percent of those affected. In another five percent of cases, there are no nerve cells in the entire intestinal section. In Hirschsprung’s disease, the muscles in the intestine are overexcited.
As a result, it contracts convulsively and the intestinal section is pressed together. The intestines are no longer emptied properly when going to the toilet, which leads to constipation. This in turn leads to a build-up of feces in the intestines and to megacolon, a chronic blockage of the intestines. This leads to bloating and vomiting.
The cause of symptoms from Hirschsprung’s disease is the lack of nerve cells in the large intestine. The ganglion cells in particular are affected here. This causes the intestinal section to contract spasmodically. Due to the malformation of the nerve cells, more acetylcholine is released, an important neurotransmitter.
Non-animal causes of the disease are a temporary reduced blood flow in the embryo, viral infections in the mother’s abdomen, maturation disorders or neuroblast migration. Genetic changes can also be identified in connection with Hirschsprung’s disease: mutations in some genes could also be the cause.
Symptoms, Ailments & Signs
The first symptoms of Hirschsprung’s disease usually appear in infancy. A distended abdomen and the failure to pass the first bowel movement (meconium) are noticeable. Sometimes even an intestinal obstruction develops in the infant. However, there are also cases in which typical symptoms such as constant flatulence and chronic constipation only appear after the child has been weaned.
In these cases, only small areas of the large intestine are narrowed, so that the infants are still able to defecate through breast milk feeding. This is possible under these conditions because the stool has a soft consistency due to the influence of breast milk and can still be transported through the small constriction of the intestine. However, this changes with the change in diet after the infants have been weaned.
The stool becomes harder and thicker because of the fiber in the food. The transport no longer works. The rectum remains empty because the feces can no longer pass through the constriction. The droppings accumulate in front of the constriction. The intestine expands more and more and becomes the so-called megacolon.
Some patients are unable to defecate at all. Enormous amounts of feces remain within the intestines in the abdominal cavity. Poisoning, intestinal perforations, purulent peritonitis and finally even potentially fatal sepsis (blood poisoning) can occur as complications.
Diagnosis & History
The first signs of Hirschsprung’s disease appear a few days after birth, when the normal passage of meconium (so-called child spech) is missing in the newborn.
The stool in babies is called meconium. The doctor will then perform a rectal exam on the newborn. If a narrowed anal canal or an empty rectum can be observed here, these are further indications of a disease of Hirschsprung’s disease. Hirschsprung disease is rarely seen in adults.
When Hirschsprung disease occurs in adulthood, the most common symptom is chronic constipation. If the diagnosis of Hirschsprung’s disease is not made until adulthood, it is usually the case that the affected section of the intestine is very short and is therefore only noticed late.
A serial suction biopsy from the mucous membrane in the rectum is required to ensure diagnostic certainty: tissue is removed from the intestine under general anesthesia, which is later examined in the laboratory and can thus adequately confirm the diagnosis of Hirschsprung’s disease. If Hirschsprung disease is not treated, it can lead to inflammation in the intestines, such as enterocolitis, which can be fatal in about 40 percent of cases. Sepsis or peritonitis, an inflammation of the peritoneum, can also occur.
Those affected suffer from very unpleasant symptoms as a result of Hirschsprung’s disease. In most cases, this leads to a bloated stomach and often to constipation. Vomiting can also occur, which significantly reduces the patient’s quality of life.
In the worst case, it can also lead to an intestinal obstruction, which can be fatal for the person concerned. The symptoms of Hirschsprung’s disease lead to considerable restrictions in the patient’s everyday life. The anal canal is also narrowed, which can lead to painful bowel movements. Various inflammations also occur in the intestines, which can lead to inflammation of the peritoneum.
Hirschsprung’s disease is usually treated with surgery. Usually there are no special complications. In some cases, however, it is necessary to create an artificial bowel outlet before an operation is possible. The procedure itself is carried out immediately after birth, so that there are no complications or consequential damage in adulthood. With successful treatment, the patient’s life expectancy is not reduced.
When should you go to the doctor?
Since the disease often occurs in infancy, parents of infants and young children should exercise increased vigilance. If there is little or no bowel movement, there is cause for concern and a pediatrician should be consulted. Simultaneous swelling in the stomach and intestines should also be examined and treated. If you experience unpleasant and persistent flatulence, constipation or chronic symptoms, you need to see a doctor. If food is refused, the child shows behavioral problems or if there is an inner weakness, a doctor should be consulted.
If children scream or cry over a long period of time, if they hardly react to the environment and if sleep disorders occur, a doctor’s visit is necessary. Changes in the consistency of the excretions, pain in the organism or general malaise should be presented to a doctor. If there is a fever, severe inner restlessness and noticeable reddening of the skin, a doctor is needed. A feeling of pressure inside the body often leads to discoloration of the skin and should be interpreted as a warning signal, especially in children. In severe cases, intestinal perforation occurs. Since there is a risk of death in these acute cases, an emergency service must be contacted. Loss of consciousness is alarming and needs immediate medical attention.
Treatment & Therapy
Definitive treatment of Hirschsprung’s disease can only be achieved by surgical removal of the affected segment of the intestine. However, this is risky in newborns, so that mostly temporary measures are initially initiated.
This includes the possibility of putting an artificial anus on the child. Another option is to flush the colon regularly until the newborn is stable enough for surgery.
The temporary use of so-called intestinal tubes (a type of catheter that is inserted into the anus) is also a treatment option until an operation for Hirschsprung disease is possible. However, this last option is rarely used.
Outlook & Forecast
The prognosis for Hirschsprung disease can vary. Patients sometimes have no major impairments from the disease for a very long time. The prospects for a successful course of treatment are good with early detection and the corresponding rapid patient care. In the case that only a few short pieces of intestine are affected, typical symptoms of the disease often only appear after some time.
Surgery is usually the method of choice. Surgery for the disease generally shows very good results. However, as with any other surgery, some complications are possible. Although these complications are quite rare, they should be considered. As a rule, however, the advantages of the operation clearly outweigh the risks.
The general prognosis for patients is good in most cases, despite problems with continence and constipation. These problems can still occur even after surgical correction. In many cases, however, an operation is unavoidable in order to prevent the life-threatening consequences of the disease. For affected children, on the other hand, the prognosis for Hirschsprung disease is still unfavorable, although long-term survival can also be achieved in children with an intestinal transplant. A feared complication of Hirschsprung’s disease is the so-called Hirschsprung enterocolitis, which can be life-threatening.
Since Hirschsprung disease is a congenital disease, it cannot be prevented and can only be corrected by surgery after a prompt diagnosis.
Hirschsprung’s disease usually requires comprehensive, sometimes lifelong follow-up care. Immediately after the operation, the prevention of wound infections, narrowing of the rectum and anus and tearing of the sutures (anastomotic insufficiency) are the priority. In the long term, aftercare aims to avoid late effects such as incontinence, permanent constipation or intestinal inflammation.
Constrictions can develop, particularly in the area of the surgical suture, which can lead to an intestinal obstruction. In order to identify possible late effects at an early stage, a specialist doctor regularly checks the width of the anal opening as part of the follow-up examinations that begin a few weeks after the operation. If the doctor finds a narrowing, a widening (bougiening) is necessary.
The parents of the affected children gradually stretch the anal opening to the required width using metal pins (Hegar pins). The measure, which is to be carried out daily at the beginning, is mostly uncomfortable for parents and children, but avoids constrictions that the doctors can often only treat surgically later on.
In addition, in many cases the affected children need a longer time before they take off their diapers. Overflow incontinence (bladder emptying disorder) can also play a role. Additional psychotherapeutic care absorbs possible mental stress on those involved. Through nutritional counseling, children and parents learn a loose stool diet that minimizes the risk of constipation.
You can do that yourself
The condition must be treated through medical intervention to prevent the infant from becoming life-threatening. In this phase there are not enough possibilities for self-help. The instructions and specifications of the doctors should be followed so that no complications arise. The child’s relatives must be informed in detail about the illness and its consequences. Any questions that arise should be clarified with the doctor treating you.
In addition, the parents or legal guardians can inform themselves about the disease in specialist medical literature. There are various self-help groups for anorectal malformations throughout Germany that offer advice and assistance to patients and their families. There, patients and relatives receive tips for dealing with the disease in everyday life in an exchange of experiences. The focus of these groups is on promoting quality of life and building positive experiences. This stabilizes the psyche, which is an elementary part of coping with the disease in everyday life.
As life progresses, nutrition is an essential element of self-help. It should be tailored to the needs of the patient. Pollutants are to be avoided and sufficient exercise promotes health. Fruits and vegetables should be consumed in sufficient quantities as they promote well-being.