Hirschsprung’s Disease or congenital varicose veins is a disorder caused by the lack of nerve cells that control movement in the distal part of the colon. This makes it difficult for stool to pass through the distal part of the colon, leading to obstruction and varicose veins in the intestines.
Hirschsprung’s Disease is a congenital disorder that doctors may notice immediately after birth. However, in some cases where the disease is not severe, symptoms may not appear until adulthood. The exact cause of the disease is still unknown, but people who have a family history of the disease may be at higher risk of inheriting it.
Symptoms of Hirschsprung’s Disease
Doctors can usually notice abnormalities in infants immediately after birth, but some babies may not show symptoms until 1 to 2 years of age. Symptoms of Hirschsprung’s Disease include:
- In newborns, meconiummay not be passed for the first 48 hours, and they may have diarrhea, green or brown vomit, and abdominal distension and swelling.
- In young children or older children, there may be symptoms of abdominal pain, abdominal swelling, chronic constipation that cannot be cured by conventional methods, flatulence, failure to thrive, and fatigue. The symptoms that occur are less severe than those in newborns or may be chronic. In addition, older children may develop more slowly than the general population because the symptoms affect the body’s nutrient absorption system.
Causes of Hirschsprung’s Disease
Normally, nerve cells in the distal colon control muscle contractions and help food move through the intestines. However, when nerve cells in the distal colon are incomplete or abnormal, the colon cannot contract and feces are trapped inside. However, doctors have not been able to identify the exact cause of Hirschsprung’s Disease, but it is believed that it may be due to genetics or gene mutations in the baby’s body. The risk of the disease is also increased if the baby is male, has a family member with the disease, has a history of genetic diseases or other birth defects such as Down syndrome and congenital heart disease.
Hirschsprung’s Disease Diagnosis
Initially, the doctor will ask about symptoms related to the excretory system and other abnormalities. Then, the physical examination will be done by means of a rectal examination. The doctor or nurse will insert a finger into the patient’s rectum to feel the size, shape, and elasticity.
In addition, the doctor may perform additional tests, such as:
- Abdominal X-ray: In this procedure, the doctor injects a contrast material, such as barium or other material, through a special tube into the large intestine. This allows the doctor to see the outline of the colon and rectum, including any narrowing due to lack of nerve cells and swelling in the colon.
- A test to measure the function of the colon and anal sphincter muscles. A small balloon is inserted and inflated inside the rectum to test for relaxation of the surrounding muscles. In people with Hirschsprung’s disease, the colon muscles are unable to relax. Doctors may use this test in older children and adults.
- A colon biopsy is a more accurate diagnosis. Your doctor will remove a sample of tissue from your colon and analyze it under a microscope to identify missing nerve cells.
Hirschsprung’s Disease Treatment
Hirschsprung’s Disease is a serious condition that usually requires surgical treatment. Surgery can be divided into two types:
- Laparoscopic surgeryin which the surgeon removes the entire terminal part of the intestine that does not contain nerve cells and reattaches the normal part of the intestine slightly above the anus.
- Open abdominal surgery is a surgical procedure in which the intestines are removed through the abdomen and connected to an artificial colostomy bag, allowing the patient to pass stool through the abdomen. Doctors use this method as a temporary treatment until the patient’s body can heal with intestinal ligation surgery.
After surgery, patients often feel constipated, so they need to receive food, water, and proper care. Doctors may relieve the patient’s symptoms by using laxatives, eating liquids, or drinking appropriate amounts of water. If the original symptoms persist or new symptoms occur after surgery, such as bloody stools, fever, vomiting, and swelling in the abdominal area, patients should see a doctor immediately because they may be symptoms of intestinal inflammation.
However, if the patient is constipated and can eat liquids, the diet should be gradually changed to high-fiber foods such as whole grains, vegetables and fruits. The amount of low-fiber foods consumed should also be limited. However, in some cases, a feeding tube may be required for a short period of time. The patient should drink more water and exercise regularly to stimulate bowel movements and help relieve constipation after surgery.
Complications of Hirschsprung’s Disease
Hirschsprung’s Disease symptoms may result in complications such as diarrhea, constipation, inability to hold stool, delayed bowel development, perforation or rupture of the intestine, malnutrition and dehydration due to short intestine, etc.
In addition, patients may be at risk of inflammatory bowel disease before undergoing surgery or after treatment for 1-2 years, resulting in abdominal swelling, fever, vomiting, poor appetite, diarrhea with a strong odor, drowsiness, and may result in death. If patients have these symptoms, they should seek treatment immediately because inflammatory bowel disease is a serious disease.
Hirschsprung’s Disease Prevention
Hirschsprung’s Disease cannot be prevented. However, if a family member has the disease and is planning to become pregnant, she should consult a doctor to assess the risk to the baby, as the disease can be passed on genetically. If the baby shows symptoms of Hirschsprung’s Disease, she should see a doctor as soon as possible for diagnosis and treatment.
