Hirschsprung disease is also called congenital megacolon, Hirschsprung disease, or aganglionotic megacolon. It is a disease of the large intestine. It is named after its discoverer, Harald Hirschsprung, who first described the disease in 1886.
What is Hirschsprung disease?
Hirschsprung’s disease is classified in the group of aganglionoses. Aganglionosis describes a congenital disease in which the nerve cells in the intestine are missing. This results in the bowel generally being impaired in its ability to move. Hirschsprung’s disease is congenital and occurs in about one in 5,000 newborns. Boys are more commonly affected than girls. Hirschsprung’s disease is often seen in combination with Down syndrome (about 12 percent of those affected also have Hirschsprung’s disease). Also in combination with other malformations such as cystic fibrosis are less common, but also occur. Usually only the rectum or sigmoid is affected, with a total of 40cm of intestine affected in about five percent of sufferers. In another five percent of cases, there are no neurons in the entire intestinal segment. In Hirschsprung’s disease, the muscles in the intestine become overexcited. As a result, they contract spasmodically and the intestinal segment is squeezed together. The bowel is no longer emptied properly when the patient goes to the toilet, resulting in constipation. This in turn leads to fecal stasis in the intestine and megacolon, a chronic blockage of the intestine. This leads to a bloated abdomen and vomiting.
Causes
The cause of symptoms of Hirschsprung’s disease is the absence of nerve cells in the colon. Here, it is mainly the ganglion cells that are affected. This causes the section of the intestine to contract spasmodically. Due to the malformation of the nerve cells, increased acetylcholine is released, an important neurotransmitter. Animal causes of the disease include temporary reduced blood flow to the embryo, viral infections in the mother’s abdomen, maturation disorders or neuroblast infiltration. Genetic alterations can also be identified in association with Hirschsprung’s disease: Mutations on some genes could also be the cause.
Symptoms, complaints, and signs
In most cases, the first symptoms of Hirschsprung’s disease appear in infancy. A distended abdomen and the absence of the first bowel movement (meconium) are noticeable. Sometimes even an intestinal obstruction develops in the infant. However, there are also cases in which typical complaints such as constant flatulence and chronic constipation do not appear until after the child has been weaned. In these cases, only smaller areas of the colon are constricted, so that the infants still manage to pass stool by feeding on breast milk. 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 constricted area of the intestine. However, this changes with the change of diet after the weaning of the infant. The stool becomes firmer and thicker due to the fiber in the food. Transport is no longer successful. The rectum remains empty because the feces can no longer pass through the narrow passage. The feces accumulate in front of the constriction. This causes the intestine to expand more and more, resulting in what is known as megacolon. Some patients can no longer pass stool at all. Enormous amounts of feces remain inside the intestine in the abdominal cavity. Complications can include poisoning, intestinal perforations, purulent peritonitis, and eventually even potentially fatal sepsis (blood poisoning).
Diagnosis and course
The first signs of Hirschsprung’s disease appear a few days after birth, when the normal meconium discharge (known as puerperal sputum) is absent in the newborn. Meconium is the term used to describe the stool in infants. The doctor will then perform a rectal examination of the newborn. If a narrowed anal canal or an empty rectum can be observed, these are further indications of Hirschsprung’s disease. Hirschsprung’s disease is rarely observed in adults. When Hirschsprung disease does occur in adults, the most common symptom is chronic constipation. When Hirschsprung’s disease is not diagnosed until adulthood, it is usually because the affected section of the intestine is very short and therefore is not noticed until late in life.For diagnostic certainty, a serial suction biopsy from the mucosa in the rectum is required: This involves taking tissue from the intestine under general anesthesia, which can later be examined in the laboratory and thus sufficiently confirm the diagnosis of Hirschsprung’s disease. If Hirschsprung’s disease is not treated, it can lead to inflammation in the intestine, such as enterocolitis, which can be fatal in about 40 percent of cases. It can also lead to sepsis or peritonitis, an inflammation in the peritoneum.
Complications
Hirschsprung’s disease causes those affected to suffer from very unpleasant symptoms. In most cases, this results in a bloated abdomen and thus not infrequently also in constipation. Furthermore, vomiting may also occur, which considerably reduces the patient’s quality of life. In the worst case, it can also lead to intestinal obstruction, which can be fatal for the patient. The symptoms of Hirschsprung’s disease cause considerable restrictions in the patient’s everyday life. The anal canal is also narrowed, which can lead to pain during defecation. Similarly, various inflammations occur in the intestine, and this can lead to inflammation of the peritoneum. Hirschsprung’s disease is usually treated by surgery. In most cases there are no particular complications. In some cases, however, the creation of an artificial anus is necessary until surgery is possible. The operation itself is performed directly after birth to avoid complications or consequential damages in adulthood. If the treatment is successful, the patient’s life expectancy is not reduced.
When should you go to the doctor?
Because in many cases the disease 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. Concurrent swelling in the stomach and intestines should also be investigated and treated. If uncomfortable and persistent flatulence, constipation or chronic discomfort occurs, a visit to the doctor is necessary. If food intake is refused, the child shows behavioral abnormalities, or there is internal weakness, a doctor should be consulted. If children cry or scream over a long period of time, hardly react to the environment and sleep disturbances occur, a visit to the doctor is necessary. Changes in the consistency of excretions, pain in the organism or a general feeling of malaise should be presented to a doctor. If there is a fever, a strong inner restlessness as well as 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 danger to life in these acute cases, an ambulance service should be contacted. Loss of consciousness is alarming and must be presented to a physician immediately.
Treatment and therapy
Definitive treatment of Hirschsprung’s disease can only be provided by surgical removal of the affected segment of bowel. However, this is risky in newborns, so temporary measures are usually initiated first. These include the possibility of creating an artificial anus for the child. Another option is to flush out the intestine regularly until the newborn child is stable enough for surgery. Temporary use of so-called intestinal tubes (a type of catheter inserted into the anus) is also a treatment option until surgery for Hirschsprung’s disease is possible. However, this last option is rarely performed now.
Outlook and prognosis
The prognosis for Hirschsprung’s disease can vary. Patients sometimes have no major impairment from the disease for a very long time. Prospects for successful treatment are good with early detection and appropriate prompt patient care. In the case where only a few short pieces of intestine are affected, typical symptoms of the disease often only become apparent after a considerable period of time. Surgery is usually considered the treatment of choice. Surgery for the disease generally shows very good results. However, as with any other operation, some complications are possible.These complications occur quite rarely, but should be considered despite this. As a rule, however, the advantages of the operation clearly outweigh the risks. The general prognosis is good for patients in most of the cases, despite occurring problems with continence and constipation. These problems may still occur even after surgical correction. In many cases, however, surgery is unavoidable despite everything in order to prevent the life-threatening consequences of the disease. For affected children, on the other hand, the prognosis in Hirschsprung’s disease is nevertheless unfavorable, although long-term survival can be achieved by intestinal transplantation even in children. A feared complication of Hirschsprung disease is so-called Hirschsprung enterocolitis, which can become life-threatening.
Prevention
Because Hirschsprung’s disease is a congenital disease, it cannot be prevented; it can only be corrected by surgery after a prompt diagnosis.
Aftercare
Hirschsprung’s disease usually requires comprehensive, sometimes lifelong, follow-up care. Immediately after surgery, the focus is on preventing wound infections, constriction of the rectum and anus, and rupture of the sutures (anastomotic insufficiency). In the long term, aftercare aims to prevent late sequelae such as incontinence, permanent constipation or inflammation of the bowel. Constrictions can develop, particularly in the area of the surgical suture, which can lead to intestinal obstruction. In order to detect possible late consequences at an early stage, a specialist regularly checks the wideness of the anal opening as part of the follow-up examinations that begin just a few weeks after the operation. If the doctor detects a narrowing, widening (bougienage) is necessary. The parents of the affected children gradually widen the anal opening to the required width using metal pins (Hegar pins). This procedure, which is performed daily at the beginning, is usually unpleasant for parents and children, but it prevents narrowing, which doctors can often only treat surgically later on. In addition, in many cases the affected children need a longer period of time before they take off their diapers. Overflow incontinence (bladder emptying disorder) can also play a role. Additional psychotherapeutic care absorbs possible emotional stress for those involved. Nutritional counseling teaches children and parents a diet aimed at loose stools, which minimizes the risk for constipation.
Here’s what you can do yourself
The condition must be treated with medical intervention to avoid a life-threatening condition for the infant. At this stage, there are insufficient options for self-help. The doctors’ instructions and guidelines should be followed so that no complications occur. The child’s relatives must be fully informed about the disease and its consequences. Any questions that arise should be clarified with the attending physician. In addition, parents or guardians can inform themselves about the disease in medical literature. There are various self-help groups for anorectal malformations throughout Germany that offer advice and assistance to patients and their relatives. There, patients and their relatives can exchange experiences and receive tips on how to deal with the disease in everyday life. The focus of these groups is on promoting quality of life and building positive experiences. This stabilizes the psyche, which is an elementary component in coping with the disease in everyday life. In the further course of life, nutrition is an essential element of self-help. It should be tailored to the needs of the patient. Harmful substances should be avoided and sufficient exercise promotes health. Fruits and vegetables should be consumed in sufficient quantities, as they promote well-being.
