About Hirschsprung Disease
The exact causes of Hirschsprung disease are still being researched, but certain genes are believed to increase the risk of the disease including nerve cells in the intestines that don't develop normally before birth.
Risk factors of Hirschsprung disease are genetic factors, such as a positive family history of Hirschsprung disease
It is important to note that while these genetic risk factors may increase the chance of developing Hirschsprung disease, they do not mean it will happen. It is always best to talk with a healthcare professional for personalized advice and guidance.
The most common early symptom of Hirschsprung disease is the failure to pass the first stool, or meconium, within 48 hours of birth. This disease is usually identified shortly after birth, but if small segments of the colon are involved it is possible that the disease may not become obvious until later in childhood, or rarely in adulthood. Other common symptoms that may occur with later stages, progression, or higher severity of Hirschsprung disease include:
- Swollen belly
- Difficulty feeding: trouble eating or drinking, which can affect growth
- Explosive diarrhea after a doctor inserts a finger in the baby's rectum
- Chronic constipation that does not improve with oral laxatives: Long-lasting constipation that doesn’t get better even after taking medicine that helps people go to the bathroom
- Malnutrition (failure to thrive) in infants or children weighing less than expected for their age: Infants or children not gaining enough weight for their age, possibly because they are not getting enough nutrients from their food
- Enterocolitis: inflammation of the intestines
It's important to note that some babies with Hirschsprung disease may not have symptoms right away, and some people may not be diagnosed until later in life. Keep in mind that these symptoms can also be caused by other conditions, so healthcare professionals may not immediately think Hirschsprung disease is the cause. If you or your child have any of these symptoms, it's important to talk a healthcare professional for the right diagnosis and treatment.
To diagnose Hirschsprung disease, doctors commonly perform the following exams, tests, and procedures:
- History and physical exam: A healthcare provider will ask you about any symptoms or factors that might be causing your condition. They will look for physical signs of a medical problem, such as a swollen belly, signs of constipation, difficulty feeding, or slow growth or poor weight gain in infants or young children.
- Imaging tests: Doctors may use imaging tests like lower GI series or contrast enema. This test involves using x-rays and a special liquid called contrast medium to take pictures of the large intestine. The liquid helps make the intestines easier to see on the x-rays so doctors can see any blockages or problems.
- Anorectal manometry: This test checks how well the muscles in the rectum are working. A small balloon is gently inflated inside the rectum to see if the muscles can relax properly. If the muscles don't relax properly, Hirschsprung disease may be suspected.
- Rectal biopsy: In this procedure, a small piece of tissue is taken from the rectum and looked at under a microscope. This helps doctors confirm or rule out Hirschsprung disease by checking if the nerve cells are missing in that area.
To determine the stage or severity of Hirschsprung disease, additional exams, tests, and procedures may include:
- Lab tests: Specific lab tests, such as blood draws, may be recommended to gather more information and rule out other causes.
- Imaging studies: Additional imaging studies like X-rays or magnetic resonance imaging (MRIs) scans may be done to check how much of the intestine is affected by the condition.
It's important to follow up with your healthcare provider if your symptoms get worse or change after the first physical exam. Genetic testing may also be considered in some cases to identify any genetic factors related to Hirschsprung disease.
The goals of treatment for Hirschsprung disease are to relieve symptoms, improve bowel function, and prevent problems. Here are the different types of treatments and how they work to achieve these goals:
- Surgical treatment: The main treatment is surgery, which involves removing the part of the intestine without nerve cells and connecting the healthy section to the anus.
- Medications: Medications are not usually used as a main treatment for Hirschsprung disease. However, they may be prescribed to control symptoms such as constipation or colitis (inflammation of the large intestine) that can occur before or after surgery. Examples include laxatives or antibiotics to treat infections.
- Therapies: There are no specific therapies recommended for Hirschsprung disease. However, after surgery, programs to help with recovery may focus on improving how the bowels work.
- Health behavior changes: Making certain lifestyle changes can help control symptoms and improve bowel function. These may include dietary changes, such as eating more fiber, drinking plenty of water, and setting a regular bathroom routine.
It's important to note that treatment plans may be different depending on individual factors and how severe the condition is. Talking with a healthcare professional is important to fine the best treatment approach for each person.