Hirschsprung’s Disease: An Overview
Hirschsprung’s disease is a congenital condition that affects the large intestine. Here’s what you need to know.
Causes and Risk Factors
Hirschsprung’s disease occurs when a baby is born missing nerve cells in their colon. Due to these missing nerve cells, they develop issues passing stool. While we do know that it’s a condition people are born with, the exact cause is not known. In some cases, it does occur in families. In fact, if one parent has the condition, their child has an increased chance of having the condition as well. In families with a child that has Hirschsprung’s disease, there’s between a 3% and 12% chance that if the parents have another baby, the baby will have the condition.
Being a male is another risk factor for the condition. People with inherited conditions like Down’s syndrome and congenital heart disease are also at a higher risk of Hirschsprung’s disease.
This condition can vary in severity, and as such so can its symptoms. In general, symptoms tend to appear right after birth. One well-known sign of the condition is if a newborn is unable to have a bowel movement within 48 hours of being born. Other common symptoms include diarrhea, vomiting a green or brown substance, constipation, gas, and a swollen belly. Newborns are likely to be fussy if they have some of these symptoms. Older children with the condition can have some of the same symptoms, and others including fatigue, chronic constipation, and a failure to thrive.
Diagnosing Hirschsprung’s Disease
As noted before, one key sign your child could have this condition is if they are unable to have a bowel movement in the first couple of days after birth. Your doctor will also perform a physical exam to check the child’s condition. They can perform a number of other tests as well. They can take a biopsy, a tissue sample, of your child’s colon to send off for lab testing to determine if there are nerve cells present or not. They can also insert contrast dye into your child’s bowel and perform an X-ray to visualize their colon. They can then check to see if there is a narrow section of the bowel (a section without nerves) and a swollen section behind it, a sign of Hirschsprung’s disease.
The most common way doctors treat this condition is through surgery. The pullthrough procedure is the most common approach, and can be done in a few ways. Ultimately, doctors first work to remove the abnormal part of the colon. They then attach the healthy section of the colon to the anus. Today, this is most often done through a laparoscopic surgery which is minimally invasive and results in fewer complications for children with the condition. The surgery leads to very positive outcomes in the majority of cases, and can fully treat the condition.
There are some potential complications from surgery. Children can experience diarrhea, fecal incontinence, a delay in toilet training, and constipation. In some cases, these complications resolve over time. Children who have had this surgery are also at a higher risk of a bowel infection up to a year after the surgery.
Our experienced team at GHP has years of experience treating patients with various GI conditions including Hirschsprung’s Disease. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.