Colorectal Quiz: Episode 42 - HD Constipation

Welcome to another episode of the Colorectal Quiz. I am Felipe Glu, colorectal research fellow at Children's National Hospital, and today we'll be discussing Hirschsprung disease constipation. Make sure you download the Stay Current app to follow along with images and other related cases. Welcome back, everyone, for another episode of the Colorectal Quiz. Today, we have a fascinating case from Doctor Chris Geyer coming to us from Children's Hospital Los Angeles. It's Chris Gayer running a wonderful colorectal program there for Southern California and the environment around. As always, we are joined today by Doctor Jason Fisher and Mark Levitt. Doctor Geyer, let's start with your case. Sure, so this patient was 20 years old at the time that I met him. He's a Down syndrome patient, but a pretty high functioning Down syndrome patient. He had a pull-through done around 6 months of age and has been dealing with constipation and his mom had a, a myriad of different management schemes she had tried over this time. With some intermittent success and currently, she was managing with daily intermittent enemas, which was becoming problematic with him going to school. So this patient had surgery as a baby and continued to have problems for 20 years. I thought Hirschprung was considered curable with surgery. Hirschprung's disease, I believe, is a very anatomically fixable problem. With a good operation, you should get a good result. But the one confounder in Hirschsprung's is they often are constipated. I think um about 1/3. They need to be proactively and aggressively managed to avoid trouble. So the ongoing medical management for this patient and his mother was not adequate. What are some reasons for the decompensation in these patients? I think there are a couple anatomic reasons they may decompensate. The surgeon, for example, might leave behind. The dilated segment right above the a ganglionic segment. Probably most relevant is the sphincters. The patient never really figured out how to successfully empty their sphincters, and the pull-through decompensates. And then you get into the trouble you're describing. Thank you. So, Doctor Geier, how did you evaluate this patient? We took this patient to the OR for an exam under anesthesia. We did not identify any strictures at the anoplasty. There was no evidence of a wave cuff. We were pretty sure this was a wave pulled through, although we did not have the operative notes. There was no evidence of a twist. So no evidence of any kind of mechanical problem. Did you do a rectal biopsy? We also did a rectal biopsy, and that rectal biopsy showed abundant ganglion cells, hypertrophic nerves, and a normal cal retin and staining pattern. Uh-huh. Very interesting. Normal ganglion cells, hypertrophic nerves, and the normal Cretinin would be expected cause the chretinin hangs out with ganglion cells. Um, nerve hypertrophy, hmm, was this a transition zone pull through, or are those nerves hypertrophied as an acquired or secondary phenomenon? It, it's a good question, and we debate often about the hypertrophic nerves. I think in my experience, hypertrophic nerves in a younger child. I age less than 3 or so, a greater than 40 microns in diameter. In discussions with our pathologist here in Cincinnati, we sometimes have lengthy discussions about hypertrophic nerves in older patients, and in patients who have chronic constipation issues. And so, in those two groups, the definition of hypertrophic nerve is a little bit more gray. So the reason for the biopsy was to determine if there was a retained Hirschprung segment, correct? For sure, if there are no ganglion cells and no cal retinin staining, that is a retained Hirschprung's and that patient needs a redo to a higher level. If there are good ganglion cells, and you have basically double evidence that there are good ganglion cells cause they're abundant, 1, and 2, there's normal chiretinin, then the nerve hypertrophy could represent transition zone. But could also represent that this bowel has decompensated over time because it hasn't emptied and it's gotten dilated. And of course, it's important to remember to look not only at the biopsy, but also how obstructed the patient is, for example, this patient does not have recurrent tenticulitis, does not have failure to thrive, is not chronically distended, and is really behaving more like functional constipation. Doctor Geier, let's get back to your case. Your next step was a contrast cinema. Doctor Levitt, can you describe those findings? All right, Chris has provided us with an AP and lateral view. The AP view shows a very impressive redundant sigmoid. I also see peristaltic waves throughout, actually, right colon, transverse colon, left colon, and even in that sigmoid, but not that dilated proximal. The size of the colon is pretty uniform. Probably this patient didn't have a lot of colon removed at the original pull-through. Thank you for that detailed description. What happened next? This patient was actually initially referred to our motility team and so came with some motility testing completed as well. So anal rectromanometry was done, which showed normal resting pressures, and absent rare that was consistent with the previous diagnosis of Hirschsprung's. And they commented that the first sensation the patient had was when the balloon was filled to 70 mL. An absent rectal anal inhibitory reflex means that the internal anal sphincter doesn't relax when the rectum is distended, which can contribute to constipation. Fascinating, right? The a man is expected to be abnormal. And many patients are gonna have an abnormal amen, but they're OK. And what we're trying to get patients to do, and I think one of the things we do with Botox is they try to learn to overcome these non-relaxing sphincters by other maneuvers like pushing on their abdominal wall, things like that. And then they basically don't care about the fact that their internal sphincter fails to relax. There are many patients that are completely asymptomatic, doing great with Hirschsprung's that have residual absence rare. Just to throw something out there, it's possible that this patient has a sphincter problem, perhaps for their whole life, given that he never emptied well, which could have led to the nerve hypertrophy and constipation behavior. Right? Their colon is not the problem. The colon in, in those patients are not the problem. The the problem usually is the sphincters or the pelvic floor. The only thing against that, and we could argue both ways, so I know the answer already, but you do have an absent rare still. Whereas if they didn't have Hirschsprung's, you should have a rare. Can I ask one question about your guys' opinion on anal rectum manometry and, and Botox? Do you guys routinely need manometry to show a high resting pressure before you would use Botox? I do like to have the data. If you get an awake amen and a cooperative patient, and you get a normal rare, and you can detect the resting pressure, you're done. The kid goes home. There's no anesthesia, there's no procedure. Now, if the rare is absent, you're obligated to do a biopsy, and we give Botox. And we give Botox, of course, if the resting pressure of the external sphincter is also high. And I do like to know whether there's pelvic floor dysynergia, which you can get on the Amen, and that's a good indication that pelvic floor physical therapy is going to help that patient. So, I like the AMA data a lot. But it has to be a cooperative patient, and then for a non-cooperative patient, you'd have to empirically treat, great discussion. Let's get back to our patient. This patient also had colonic manometry to evaluate how well the colon muscles are contracting and moving the stool along. What did his test show? We have a pretty robust manometry motility program here and a lot of patients have encountered this, especially in the post Hirschprung's patient, where they come with a colonic manometry done that suggests good contractions, but they comment on segmental dysfunction in the distal sigmoid. And so that's what this patient had, distal dysfunction, the contractions had stopped around the 15 to 20 centimeter mark. So now we get into the discussion of colonic manometry in Hirschprung's. And I can tell you, we don't do it. We don't do colonic manometry in Hirschberg's patients who have obstructive symptoms, because It's not the colon, it's the distal pull through, that's the problem. You must rule out anatomic and pathologic causes before any colonic manometry is considered. You must get rid of the distal obstruction, and that's why a colonic manometry in a patient with a distal obstruction. Is the wrong test. That's a key point, Mark, is making sure that distal obstruction is gone. But once you have that distal obstruction ruled out or fixed, and the colon is still not working, then you have a problem. Those cases are rare though, where everything has anatomically checked out and it's still not empty. That would be a case for a colonic manometry. For this patient, you have the data now, what do you do with it? Let's talk about it because you said there was only a 10 to 15 centimeter segment. In the distal sigmoid that showed no HAPCs. Correct. Our rule of thumb at our place is if there's a segment less than 30 centimeters of inadequate HAPCs, we're not super aggressive about it. Over 30 centimeters, definitely more of a, a red flag. Just to take a step back, HIPCs are high amplitude propagating contractions which aid in the transfer colonic contents over the long distance and often precede emptying. This is useful information when treating functional constipation. When medical management is exhausted, these patients can undergo a Malone procedure, which creates a pathway directly into the colon through the abdominal walls for enemas. Hot off the presses, we have some new data to share with our audience, an ABSA submission from the PCPLC Consortium. Would you like to guess how many patients in a group of close to 100 patients? That had functional constipation and segmental dysmotility of the sigmoid. Responded to Malone only, never needed a resection. I have a guess. 100%. 97% successfully responded to Malone only with segmental dysmotility. This is enormously important, enormously important, because in the old days, and I mean five years ago, Jason and I, and you probably too, Chris, we're taking sigmoids out of those patients. Doctor Geier was this ultimately your plan for the patient? Yes, so we did them alone and started flushes through them alone and as Consistent with the conversation we've just had, this patient did quite well with that, and we were able to get mom to be in a much happier place and ultimately, this patient in a much better place, emptying his colon completely daily. That's fantastic. It seems like you were able to look past the diagnosis of Hirschsprung disease, which had already been addressed surgically, and really focus on what was causing this patient's current symptoms. What advice would you give to other physicians managing patients with persistent constipation after surgery for Hirschprung's disease? We need to keep the bonding with GI. I look at I'm alone in that patient, it is a route for medical treatment. Right? You give them alone, you get antegrade access to the colon for the gastroenterologist to give better medical treatment, and in this case, that's a flush. So I think it's really important that those patients are medical, but we have offered them a surgical route to give them better medication. What a great case. This was awesome. There might have been a few curves on the road to get from the beginning to the end, but I think we covered a lot of topics and really a lot of fun. Chris, we're very appreciative of your time and of your energy and your collaboration. Thank you all for being here today and participating in this robust discussion. I think the most important thing is to remember that while the surgery can correct the underlying anatomical problem in Hirschprung disease, many other factors can contribute to constipation. It's essential to take a thorough history, perform a physical exam, and consider all potential causes of constipation, including motility disorders, pelvic floor dysfunction, and behavioral issues. A multidisciplinary approach involving gastroenterologists, surgeons, and pelvic floor therapists is often necessary to provide optimal care for these patients.