Transcript
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Welcome to CE on ReachMD. This activity is provided by Global Learning Collaborative and is part of our IBD Masterclass curriculum.
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Dr. Dolinger:
Welcome to this case review on inflammatory bowel disease. I'm Dr. Michael Dolinger from NYU Grossman School of Medicine.
Dr. Rubin:
And I'm Dr. David Rubin at the University of Chicago.
Dr. Dolinger:
Today we'll walk through a real-world patient scenario that highlights the diagnostic challenges that many of us face in clinical practice. IBD diagnosis isn't always straightforward, especially when patients present with nonspecific GI symptoms, inconclusive labs, or imaging that raises more questions than answers. In this discussion, we're going to explore how to construct an effective diagnostic and severity workup, what to order, when to refer, and how to avoid missteps, whether you're practicing in a busy community setting or managing complex referrals. Our goal is to provide you with real insights that are practical, evidence based, and reflective of real-world pressures.
So we're going to start with a case. We have a 22-year-old woman who presents with 6 months of loose stools, four to six episodes per day, including two to three nocturnal awakenings per week. She has urgency and incontinence, and those are some of her main concerns. She complains of intermittent cramping abdominal pain that's relieved by defecation, and she has visible blood and mucus in the stool on most days and at most bowel movements. She has a 5-kg unintentional weight loss, and her appetite is significantly decreased.
Going through her history further, she has no recent travel or sick contacts or antibiotic use. She doesn't use NSAIDs, and she has no known history of celiac disease or thyroid disease. In her family history, there is a relevant history of a paternal uncle with “colitis” requiring a colectomy in his 30s, but there's no further information on his case.
When she comes to your office on exam, she's afebrile. Her heart rate is 92. Her blood pressure is stable at 110/70. And there's no extraintestinal symptoms reported. She has no joint pain, no joint inflammation, her vision is normal, and she has no skin rashes. Her abdomen is soft, but there's mild diffuse lower abdominal tenderness, and otherwise the exam is not significant. She really has this mild tympanitic pressure on the right side of her abdomen, but overall, you can't elicit a focal point that keys you in on what to do next.
So now we have this patient, a 22-year-old female with significant GI symptoms: diarrhea, urgency, abdominal pain, weight loss, and decreased appetite. Dr. Rubin, let's start with your clinical impression. What do you think? We're thinking about potential IBD, but what does this presentation raise as other possibilities, and where would you start?
Dr. Rubin:
Well, thanks, Mike. I think this is a really good case to discuss. I think for our community gastroenterology colleagues, they're already aware that we're thinking about inflammatory bowel disease. It's a young person, and she has multiple red flags: nocturnal symptoms, she's seeing blood in her stool, and she's had a significant amount of weight loss which is predominantly due to decreased oral intake, either consciously or subconsciously in most patients.
I would add that there's no obvious other factors here to make us think about infection, but it's on the list. You told us that there had been no recent travel, and there's no other reason to suspect an ingestion of something that would cause more of a chronic picture like this, but of course, you leave that on the list.
I want to emphasize a couple things here. One is that any patient we see—and I think our colleagues appreciate this—should also have a perianal exam. There's no reason not to make sure we're looking at the bottom, because for patients with inflammatory bowel disease, we may see skin tags or perianal disease that the patient doesn't describe to us. And the second thing is, we may also identify other problems in that perineal area that will clue us in into these problems.
The absence of extraintestinal manifestations doesn't change my impression that this is likely an inflammatory bowel condition. And I would add that although we heard that she has an uncle who had colitis and needed a colectomy, most patients who present with IBD, as our colleagues will appreciate, have no family history, and they don't understand or know why this started.
So I think we should be thinking about IBD early, and we should just make sure we do our due diligence and rule out infections to make sure that she doesn't have a concomitant infection or something else that would suggest she has some other immune disorder or problem that we didn't know about.
Dr. Dolinger:
That’s fantastic. It sounds like doing a really thorough physical exam, making sure you look for skin tags or any perianal disease, and ordering the right tests to rule out stool infections will be critical.
Are there other tests that can be used that would clue you in as noninvasive screening tools that you'd use now? Or would you jump right to colonoscopy and forget the noninvasive tests? Where do you think those fit in, like stool tests for fecal calprotectin or lab tests such as C-reactive protein?
Dr. Rubin:
Well, calprotectin, of course, is highly sensitive for colonic inflammation but nonspecific, but it certainly would be helpful. A reminder to everyone that calprotectin as a stool marker was approved by the FDA in the US to distinguish between infectious or inflammatory conditions and irritable or functional bowel problems, so you can use that as a screening tool.
Of course, we love intestinal ultrasound when you can get it, and I'll let you tell everyone a little bit more about that. But I would just add that to make the diagnosis of IBD, you still need histopathological confirmation. You need to be able to see chronic changes under the microscope to confirm that.
And of course, even with that physical exam, which suggests this may be a left-sided colitis, because you mentioned tympany on the right side, I do think she still would at some point need to have her ileum evaluated further. And remember that at the time of diagnosis of IBD, cross-sectional imaging or some other assessment of the ileum, including an ultrasound, would be an important tool.
Why don't you teach all of us about how you use intestinal ultrasound in a case like this?
Dr. Dolinger:
Yeah, I of course think intestinal ultrasound is an amazing noninvasive tool, so we pair it with these other standard biomarkers (fecal calprotectin, C-reactive protein) to help understand precisely a patient's inflammation. So ultrasound, or intestinal ultrasound, is a safe noninvasive transabdominal ultrasound where if you have any machine that's optimized for viewing the bowel or the intestines, you can take a probe and put it on a patient's abdomen and visualize the rectum and, most importantly, the distal colon all the way through, as if you're doing a colonoscopy, to the terminal ileum, and you can map that inflammation.
As you pointed out, fecal calprotectin is an excellent diagnostic screening test for colonic inflammation. A number may tell us there is a certain degree of positive predictive value that we have inflammation, but it doesn't tell us anything about the precise location and severity of that inflammation, and that's where ultrasound comes in.
And we will use this with our calprotectin, with our labs at diagnosis, when we perform that colonoscopy as a benchmark to the gold standard with our histopathology, to follow that patient going forward. And then we have a real true noninvasive way to monitor early changes in healing, hopefully, when we pick a right treatment strategy for our patient, when we don't have to scope them at 4 weeks, we can know with ultrasound and calprotectin if they're moving in the right direction early.
Dr. Rubin:
That's great, and obviously you're the world's expert to help us understand that. I love the term benchmark. Same thing goes for CALPRO or CRP or even hemoglobin, benchmarking it to the colonoscopy.
I would say that just based on her symptoms, assuming this woman has ulcerative colitis, which is where we've been going with the teaching points here, I do want to emphasize that she has moderately to severely active UC based on her symptoms, even before we see anything else with the scope.
And I would also add just as a pearl for our colleagues that even a single episode of incontinence is traumatizing to anyone of any age, let alone a 22-year-old woman. So I think we should be thinking ahead to the fact that this person is going to need more advanced therapy, and we shouldn't fool ourselves into thinking that mesalamine alone is going to do all the work. Although it's still reasonable to start with it, we want to be able to move through it quickly once we get things sorted out here.
Dr. Dolinger:
When we diagnose this patient with left-sided ulcerative colitis, and we're talking to her about treatment options and the risk of disease both short term and long term, how are you kind of framing that conversation for the patient? What are some pearls you're giving them to kind of point them in the right direction as to the decisions you want them to make that you think are best for their future when they're diagnosed with the UC?
Dr. Rubin:
Well, it's a great question, Mike. First, I'll remind everyone at least the historical literature says that about 1 out of 20 people may still have what we call a self-limited colitis, which spontaneously remits and never comes back. And of course, every patient wants it to be the case. But even if they don't have that, if they're the other 95% of people who are going to have a chronic condition that may take various flavors and behaviors over time, we recognize that people need to come to terms that this is a chronic problem.
So when I educate people about this, I say, I want you to feel better right away, and I want it to last. So it means that, in addition to making your symptoms go away so you feel perfect, we want to confirm that we heal the bowel so that we're modifying that chronic inflammatory process and that we keep it there. And I encourage them to at least let me manage them and get them where they need to be for 6 months, and then we can revisit what we're going to do longer term.
You have to take it in steps. If you tell somebody who's 22, let alone someone who might be 62, that you're giving them a chronic diagnosis and they're going to live with it the rest of their life, that's a lot to manage. And frankly, out of humility, I think we need to also understand that it may not be that, and we should treat this and then reevaluate. It's a really important point, and it helps the patient work through one step at a time.
Dr. Dolinger:
Yeah, and I have a similar approach, and I think what you mentioned earlier with incontinence as a huge symptom that is traumatizing to patients, and framing the discussion around never having incontinence episodes, and using a treatment that removes that possibility as best as possible early is something I use to help guide that discussion.
I do find that patients are still often hesitant to pursue treatments, and they're really thinking, especially diagnosis, one, is this cancer? And two, am I going to get cancer from either the disease or the medications we're going to prescribe?
Dr. Rubin:
That’s a really good point.
Dr. Dolinger:
But how would you frame the cancer risk or neoplasia risk in colitis, and in this case left-sided colitis, for a patient who's worrying, am I going to get cancer in my life, in my colon?
Dr. Rubin:
Well, I really am glad you brought it up, because if you don't mention to a patient what they're going to read when they go online to read about the condition you may have just diagnosed them with, it's still out there, and it's older information that people with inflammatory bowel disease—let alone the more specific information about ulcerative colitis—will get colon cancer.
And the reality is that the rate of colon cancer in patients with inflammatory bowel and with ulcerative colitis is just barely above the general population, especially with our modern approach to controlling inflammation.
So I actually go out of my way in a newly diagnosed patient or someone who comes to see me for another opinion to say, you may have read that there's a risk of colon cancer with this condition, our job is to make sure that your inflammation is under control and that we're going to take good care of you, and that is not going to happen. We're going to have a plan for you to prevent that and to make sure we stay on top of it. I don't want them to be motivated by that alone, and I don't like to use fear as a way to keep them well, but I do want to dispel misinformation.
I also make sure to ask about incontinence. We gave the information here in the case stem that you presented, but the reality is, if you don't ask about it, a lot of times patients won't mention it because it's embarrassing, and they just feel like it's a terrible thing, and they often feel very lonely and they wonder if they're the only one who had this problem happen. So you should ask, have you had any accidents, and talk about urgency in order to get this under control. And remind them that's why we're treating.
And if you're giving a rectal therapy, like an enema or suppository, remind them that the reason you're doing that is to get the drug right where that rectum is. Or if you're giving a more systemic therapy, you explain what the goals are so they understand why you're doing this.
Dr. Dolinger:
And these are excellent points. And we'll often say controlling the rectum will help control your symptoms as we can heal the rest of your colon. If we can prevent any bleeding, urgency, and incontinence, we can work on the rest and get you there.
This is fantastic. I think when I am thinking about left-sided colitis, I'm trying to define the severity in relation to someone who's diagnosed with pan colitis, their entire colon involved. And I think it matters about how that inflammation appears. Is this inflammation that has ulcers, and we would classify as a Mayo endoscopic score of 3 versus Mayo 1, and it's pan colitis, which you can have. And then with ultrasound as well, is there significant transmural inflammation, or do I think this is a more mucosal limited disease?
Can you talk a little bit about how you define the severity of ulcerative colitis at diagnosis and differentiate it a little bit from the activity of the symptoms of urgency and incontinence, which can't fully be separated, but how do you kind of distinguish it a little bit?
Dr. Rubin:
Well, severity implies prognosis, and that's the way we should think of that term. So it's not just about how active they are, as you point out, but how severe is the disease in terms of what's their likely outcome, otherwise. Younger age of diagnosis with UC, it's under age 30 or so, the patient who has more extensive colitis, but certainly when they have more severe inflammation by scope. So you mentioned a Mayo endoscopic score of 3, certainly that's somebody who has a worse prognosis. The patient who needs to be hospitalized for their colitis, the patient who's got significant anemia or a low serum albumin, those are all markers of severity and predict the likelihood of hospitalization or surgery later.
So you should be thinking ahead. If you have a patient who presents with that prognosis in addition to whatever activity they have, you should not be wasting time with therapies that are more for mild disease, at least not to induce remission and gain control.
It remains an understudied area in our world and in our field whether we use more intensive therapy up front in ulcerative colitis, can we step down to less intensive therapy in maintenance? That question hasn't really been answered, because our clinical trials for moderately to severely active UC are, by definition, patients who have already been on other therapies in many cases before they get into those trials, nor do they define de-escalation as part of the management.
So you want to think about severity, you want to, of course, address activity as quickly as possible, and you want to not under-treat people so that their disease either progresses or else just continues on and makes them miserable even longer than necessary. So be thoughtful about that.
Dr. Dolinger:
There are a lot of take-home messages, I think, from this case, from diagnosis in this 22-year-old female, to defining her disease activity, disease severity, and really being able to prognosticate her future and decide on the best treatment course in a shared decision model. What would you say would be some of your key takeaways for our community gastroenterologists that they can just take from this case and immediately implement in their practice that will change how they care for IBD?
Dr. Rubin:
I think our colleagues are good at thinking IBD as gastroenterologists. The audience that I would love to teach more about would be the internists and the gynecologists and the school nurses, all the people who are missing the suspicion to send them to us. So I think our colleagues know that. But I think the takeaway for them would be, what is the patient's prognosis so that we can choose therapies correctly early? And that includes our therapies that we know work well for moderately to severely active colitis.
Don't forget to ask about urgency and incontinence. Patients may not mention it, but it's really debilitating and it's traumatic to experience.
And I do think the idea of benchmarking biomarkers, including transabdominal ultrasound, if you have it available to you—you should learn about it, otherwise—is a really good tool, because then you can follow up, whether it's the CALPRO or CRP, if they make one, and certainly the imaging with ultrasound, you can do that in less invasive ways to know that you're achieving your goals.
And what I think you did a nice job, Mike, bringing up, is making sure that you're dispelling misinformation about cancer, and you're reminding patients that our goal is to reset their bowel activity so that they're going to be healthy and stay well over time.
Dr. Dolinger:
Well, that's well said. I don't think I could add much more to that. I personally am going to take away making sure myself and all of our trainees here really focus on asking about incontinence, because when I think about it, whenever I do ask it, and it should be every time, patients reveal it so often, much more than I would think.
Dr. Rubin:
Yeah, remind your trainees to look at the perianal exam as well, because my trainees don't always remember that, so I suspect it's happening a lot.
Dr. Dolinger:
Okay, I've had an amazing time, and I think that's all we have for today. So thank you everyone for joining us. We hope that this discussion gave you real, practical insights about the diagnostic workup and, more importantly, the prognostication, the management of IBD in the earliest phase of diagnosis. And now you've gone from how to manage with ambiguity to a real confidence and clarity in your clinic. Thank you.
Dr. Rubin:
Thank you, Mike, this was great.
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You have been listening to CE on ReachMD. This activity is provided by Global Learning Collaborative and is part of our IBD Masterclass curriculum.
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