HIRSCHSPRUNG DISEASE OR INFANTILE CONSTIPATION? CAUSES AND TREATMENT
Medically Reviewed by Dr. Sony Sherpa (MBBS)
Hirschsprung disease is a rare congenital disorder that disables portions of the large intestine (colon) and causes problems with bowel movements. It is present at birth and occurs during fetal development when nerve cells in the colon do not form properly and are missing, leading to difficulty passing stool. Other names include congenital aganglionic megacolon and congenital intestinal aganglionosis.
The condition affects approximately 1 in every 5,000-10,000 births, with males four times more susceptible than females. Most cases are diagnosed and treated within the first month to year of life.
This article highlights the types, causes, symptoms, diagnosis, and treatment options for Hirschsprung disease.
What is Hirschsprung Disease?
Hirschsprung disease (HD) is a congenital condition in which nerve cells are missing in part or all of the digestive tract. The nerves surrounding the digestive tract are required for generating the muscle contractions necessary for peristalsis, the motion that allows digested food to pass through the tract. Those with HD are prone to bowel blockage in the areas where the nerves are missing. The missing nerves can cause a buildup of stool, leading to abdominal pain, constipation, malnourishment, and other symptoms[1]. It is first detected in newborns who fail to make a bowel movement.
Left untreated, it can lead to enterocolitis (intestinal inflammation) and may perforate the intestinal wall. Perforations may become infected and cause systemic toxicity or sepsis, which can be fatal.
Types of Hirschsprung Disease
There are no official types of Hirschsprung disease, yet there are classifications based on the location of the missing nerve cells.
The three main categories are:
- Short-segment Hirschsprung disease: The most common type only affects a small portion of the colon and is present in about 80% of cases. In this type, the aganglionic segment (the section without nerve cells) comprises the rectum and sigmoid colon, which make up the lower end of the colon.[2]
- Long-segment Hirschsprung disease: This type involves a longer segment of the colon, extending beyond the sigmoid colon into the descending colon or even the entire left colon. Long-segment HD affects up to 15% of those with the condition.
- Total colonic Hirschsprung disease: The entire colon lacks nerve cells in this rare type. Less than 5% with HD contracts total colonic HD.
Causes and Risk Factors
The exact cause of Hirschsprung's disease is not fully understood.
Scientists theorize that the condition stems from improper migration of embryonic stem cells in utero due to various gene mutations. The lack of these cells causes the affected area to over-contract during development, substantially narrowing the area and rendering it unable to perform bowel contractions. The adjacent healthy regions of the tract become swollen to compensate.
Researchers have identified over 100 gene mutations associated with the condition[3].
Risk factors include:
- Having a family member or parent with the condition
- Down syndrome
- Other similar genetic disorders, known collectively as neurocristopathies
- Congenital heart conditions
- Neuroblastoma[4]
- Premature birth
- Low birth weight
Signs and Symptoms
The symptoms of Hirschsprung disease can vary based on the severity of the condition. In newborns, the most common sign is failure to pass meconium (the first stool) within 48 hours of birth.[5]
Some infants may experience milder versions of HD, where they are still able to pass stools with frequent bouts of constipation.
Other signs and symptoms may include:
- Constipation
- Abdominal swelling
- Vomiting
- Diarrhea
- Poor appetite
- Weight loss
- Delayed growth
- Foul-smelling stools (in milder cases)
- Difficulty passing stool
- Rectal bleeding
In older children, symptoms are milder and include chronic constipation, abdominal pain, and a swollen abdomen.
Hirschsprung Disease vs Constipation
Hirschsprung disease is often mistaken for constipation, as they share similar symptoms. However, ordinary constipation is usually transient and mild, while infants with HD experience severe constipation with a wide range of symptoms.
Complications
If left untreated, the disease can lead to serious complications, including:
- Bowel obstruction
- Enterocolitis (inflammation of the colon)
- Malnutrition
- Slow growth
- Dehydration
- Anal fissures or tears in the skin surrounding the area
When to Call a Doctor
If your child is experiencing symptoms of Hirschsprung disease, it is crucial to seek medical attention as soon as possible. Early detection and swift treatment can deter many complications and improve outcomes.
Diagnosis and Screening
Most cases are diagnosed within the first month of birth, with some in the first year. If your infant shows signs of Hirschsprung disease, your doctor may execute a physical exam and ask about their medical history, if any.
They may also recommend the following tests:
- Barium Enema: A type of X-ray, this procedure uses a barium contrast material to highlight the colon and rectum. A barium enema can assist in locating any obstructions or abnormalities within the colon.[6] It has a positive predictive value of 60%, meaning it can correctly identify 60% of patients with Hirschspung disease. [7]
- Rectal Suction Biopsy: A rectal biopsy involves extracting a small tissue sample from the rectum to check for the presence of nerve cells. This is the most accurate way to diagnose Hirschsprung disease, with a sensitivity of over 96% and a specificity of over 99%.[8]
- Anal Manometry: This test measures the pressure in the rectum and anal sphincter muscles using a catheter with a balloon attachment. The balloon inflates and takes pressure readings in the rectum. This can help determine if there is a blockage in the colon.[9] Anal manometry has varying reports of accuracy ranging from 62% to 90%, which may be why it is selectively utilized to screen Hirschsprung disease.[10], [11]
Treatment Options
The main treatment for Hirschsprung disease is surgery. The goal of HD surgery is to extract the affected portion of the colon and connect the healthy portion to the anus. This is known as a pull-through procedure.[12]
A pull-through procedure can be performed with a laparoscope or as an open surgery. Laparoscopy allows for a 1 step procedure instead of a 2 step procedure in which there is a waiting period in between.[13]
Surgery can improve constipation and other symptoms of HD, yet it may also lead to complications, including fecal incontinence.
Ostomy
In some cases, an ostomy may be necessary. This procedure involves forming an opening in the abdomen to permit the contents to pass from the tract through a bag attached to the skin. This is often temporary until the infant can receive a proper pull-through procedure. Ostomy gives the digestive tract time to heal from any damage HD caused, such as enterocolitis or perforations.
Post-Surgical Care
After surgery, your child may need to stay in the hospital for a few days to monitor their recovery. They may also need to follow a special diet and take medications to help with bowel movements.
Will Surgery Be Required Again in the Future?
In most cases, surgery is a one-time treatment. However, in some cases, additional surgery may be necessary if complications arise, if an ostomy is necessary, or if the initial surgery was unsuccessful.
Living with Hirschsprung Disease
While surgery usually improves outcomes dramatically, living with the disease can be challenging. Those affected and their families or carers need to work with an experienced healthcare professional to ensure they receive the best care possible and to watch for potential complications.
Occasionally, laxatives or other medications to help with bowel movements may be necessary to optimize digestion.
Those affected will also need to go on a special diet for the rest of their lives to accommodate having a shortened digestive tract. Dietary adjustments to help manage their condition may include avoiding certain foods that can cause constipation, such as dairy products and processed foods.
A few helpful suggestions may include:
- Eating a high-fiber diet (may require gradual weaning)
- Drinking plenty of water
- Eating smaller, more frequent meals
- Steering clear of food that are hard to digest, such as nuts and seeds
- Soaking grains and legumes to improve their digestibility
Young infants may need a feeding tube after surgery for a while until they have recovered.[14]
Physical activity can also assist with regulating nerve function, muscle contractions, and regular bowel movements in those with HD.
Latest Advancements
In recent years, there have been advancements in treating Hirschsprung disease. One of these advancements is minimally invasive surgery, which can lower the chances of encountering complications and reduce recovery time.
Researchers are currently exploring the potential of cell-based therapy as a future treatment, which includes the use of induced pluripotent stem cells (iPSC), embryonic stem cells (ESC), or native enteric neural crest cells (ENCC). This approach has the potential to bypass surgical complications and promote the development and function of a healthy enteric nervous system (ENS). However, more research is needed before these therapies can treat patients in clinical practice.[15]
Future insight into the genetic causes underlying the condition may lead to the invention of gene therapeutics and the ability to screen for the condition during pregnancy.
Conclusion
Hirschsprung disease is a rare disorder that affects the large intestine and causes difficulty passing stool. It is typically diagnosed in newborns or young children and requires surgical intervention. Early recognition and treatment can avoid complications and improve outcomes. If you suspect your child may have Hirschsprung disease, it is important to seek medical attention as soon as possible.
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