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What Is Hirschsprung's Disease?

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What Is Hirschsprung's Disease?

Sep 04, 2019

When a newborn is unable to pass stool, the cause could be Hirschsprung’s Disease, a rare congenital disorder that can lead to serious complications. Dr. Michael Rollins explains the disease and how it can be treated to help your child lead a full life.

Episode Transcript

Interviewer: Hirschsprung's disease is a rare intestinal disorder that can severely impact a child's ability to pass stool. What treatments are available and what you can expect for your child on The Scope.

Announcer: Health information from experts supported by research. From University of Utah Health, this is

Interviewer: I'm here with Michael Rollins, a professor of surgery in the Division of Pediatric Surgery at the University of Utah Medical School and Primary Children's Hospital, and we're talking about Hirschsprung's disease. Am I pronouncing that right, Hirschsprung?

Dr. Rollins: Yeah, that's correct.

Interviewer: So what exactly is this disorder?

Dr. Rollins: Hirschsprung disease is a disorder where the nerve cells of the rectum and/or part of the colon don't form normally, and these nerve cells are responsible for relaxation of the rectum and colon to allow the passage of stool. So basically, a child is born with an intestinal obstruction because they're unable to pass stool.

Interviewer: So that can be pretty serious, I would think. How common is this type of disease?

Dr. Rollins: It occurs in about 1 in 5,000 live births, and yes, it is serious. It's a problem that most of the time will progress to severe abdominal distension or vomiting, feeding intolerance, and can even progress to a life-threatening infection called enterocolitis or an intestinal perforation if it's not recognized within the first few days of life.

Interviewer: What are some of the ways that physicians, surgeons kind of treat this disorder?

Dr. Rollins: The majority of babies will pass meconium, the first stool, within the first 2 days of life, up to 98%-ish. So probably the most common way that this is diagnosed is the baby is born and they don't pass stool in the first two days of life. Second most common way would be that the baby doesn't tolerate feeds in the first one to two days of life, becomes significantly distended, the abdomen becomes distended, or they're vomiting, and also probably not passing stool or passing very little stool.

Those are red flags and those prompt further either consultation to a pediatric surgical service or further investigation, which most commonly the first study would be plain abdominal x-ray or what's called a contrast enema, where a small tube is placed in the child's rectum and contrast fluid, contrast dye is infused to look at the rectum and colon.

Interviewer: And then how do you actually treat or correct? What intervention do you do with this disorder?

Dr. Rollins: Hirschsprung disease requires surgery for correction. So as I mentioned a little earlier, it's a spectrum of a disease. So the very end of the large intestine may be affected, so the rectum only may be affected, but variable lengths of the colon upstream, or even in more or the most extreme cases even part of the small intestine may be affected, so that stool can't pass. So the treatment options would be different really based on the level of the disease.

So 80% affect only the rectum, so what we call a short segment. And in those babies, the treatment option, they can be treated in three different ways. The first thing is a rectal biopsy is performed at the bedside to make a definitive diagnosis. So the pathologist won't see the nerve cells when they look at it under the microscope. And so once you have that definitive diagnosis, then you can either proceed to the operating room shortly thereafter and determine the level of the normal intestine, resect or take out the abnormal portion, and bring the normal intestine down to a small, little rectal cuff just above the anal canal. So a one-stage operation.

Another treatment method may be to perform daily irrigations or washout of the rectum and colon. Parents often do this at home. And then once the child has a chance to grow, get a little bit bigger, we'll come back around three months of age or so and do that one-stage operation at that point. Sometimes, it's technically a little bit easier, and then, you know, the babies had a chance to go home and be with parents and develop that normal relationship.

And then the third way to treat it would be with a colostomy at birth. So go to the operating room, determine the level of the normal intestine and bring that up to the abdominal wall so that stool empties into a bag. And then once the child has grown and gets older, go back for the definitive operation, where the abnormal portion is resected and the normal portion is brought down to the bottom.

Interviewer: And what kind of care should a parent expect after this procedure?

Dr. Rollins: So the tricky part of Hirschsprung's disease is intuitively you'd think that, "Okay, the abnormal intestine is gone, my baby is cured." And we thought that for a long time. But we've begun to realize that we as a surgical community, medical community have begun to realize that that's not actually the case.

You know, in the past, we would do the operation, we would see the child back a few weeks afterwards, everything looks great, great operation, you know, good to go. And those children would develop problems with infections of the intestine called enterocolitis, can get a bacterial overgrowth that can cause severe infection, which the symptoms of that are fever, abdominal distension, vomiting, severe explosive diarrhea. And the treatment for that is washouts, rectal washouts, which parents can do at home and which here, at Primary Children's in the university hospital, we teach all of our families how to do that so that if those symptoms develop, they can contact us, let us know, and begin that treatment at home.

So that's kind of the short term, you know, what we worry about after we're satisfied with the surgical side healing and things like that. So we worry about enterocolitis initially. Seems like that becomes less of a problem after the first couple of years of life.

And the issue that seems to be most common during childhood, and even into adolescence, is constipation. And it's constipation beyond what you think of when you think of constipation, maybe hard stool that's infrequent that the pediatrician or primary care provider treats routinely each day. This is constipation that requires often a formal bowel management program with a high-dose stimulant laxative therapy to get the large intestine to squeeze and empty normally. If this constipation is not recognized, left untreated, over time, it can result in a dysfunctional colon. So we stress to families that, you know, this is a long-term relationship with us as the care team in order to avoid these complications.

Interviewer: And with this kind of long-term care, what kind of quality of life can a parent expect for their child with this disorder?

Dr. Rollins: The great news is, as I mentioned, our thought process in the past was not complete. Now, we are recognizing these issues, and with early management, these children going to be highly functioning, you know, normal functioning children playing sports, going to regular school, sleepovers, camps, things like that, they just may have to take medication each day in the form of a laxative, which you know, I mean, I explain to children and to their families that you wouldn't think anything about taking your inhaler every day if you had asthma. So you know, this is the same thing.

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