Dr. Rebecca Trachtman speaks about the most common pediatric rheumatic digestive diseases that affect the esophagus and airway: Granulomatosis with Polyangiitis (GPA), Sarcoidosis, Juvenile Dermatomysositis (JDM), Polyarticular JIA (pJIA), and Sjogren’s Disease. She walks through the aerodigestive manifestations, workup, and principles of management for each disease.
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I have the pleasure of introducing our last speaker, Rebecca Trackman, uh Doctor Trackman. Um I've been working with her closely, not so closely there anytime I get in trouble and I can't figure what's, what, what's going on. I blame Doctor Trackman and I send kids to her because I think that there's always an autoimmune phenomenon that's going on whenever I can't figure something out and very frequently she helps me out and we've been, uh, we've shared a lot of uh uh interesting cases, rare but interesting cases. Um, over the past couple of years, uh, we're thrilled that she's uh with us. She's unfortunately our only pediatric rheumatologist in the department of pediatrics. Uh, she also has, um, a, uh uh she's also a physician scientist, um, that, uh, Lisa sat in our chair, hired her on one of our uh research tracks and uh she's very busy. Um, but we're thankful that she's involved. I, I for one am thankful that she's involved with uh a lot of my complex patients and without further ado I'm gonna ask her to come up and take us home. Thank you. I think that was entirely too nice. Um But thank you so much for having me. Um I'm gonna break the golden rule of talking slowly because there's a lot to get through in a very short time. So I'm gonna talk fast. Um I'm happy to share slides with anyone later if they're interested. Um And of course to answer any questions. Um No, no disclosures for this. Um Here are my objectives. I'm gonna skip right over this and get to the overview. Um So, of course, there are multiple rheumatic diseases um that can affect the esophagus and airway in kids. Um These are often heterogeneous, systemic diseases with variable manifestations. Um And so the aerodigestive system can be affected. Um but of course, is not necessarily affected and there will be lots of other signs and symptoms to look for. Um So what I'm gonna go through is so I wrote, you know, the most common ones because of course, none of these diseases are common. They're all fairly rare. Um But we'll go through kind of what they are a little description of it, the aerodigestive manifestations, other things to look for and then work up in basic basic principles of management. Um So the first thing we'll talk about is granulomatosis with polyangiitis or GPA, what used to be called Wagner's. Um So what is it? So whenever we talk about vascularity, right, or inflammation of blood vessels, um we talk about kind of which vessels are affected is really the major classification. Um So this is a variable vessel vasculitis, although small vessels are most commonly affected, um this is an anchor associated vasal. So when you look at those small vessel vascularity, um one of the major branching points is anchor associated versus non anca associated. And here's a, you know, nice, pretty picture of the anchor patterns and you know, the cytoplasmic staining and all that. Um So most commonly when we're talking about GPA, um you're gonna have a positive C ANCA or anti pr three. the nice little mnemonic for that is CPR. Um but you can also have a positive P ANCA right, or a positive MP O. So important to note here that microscopic polyangiitis or MP A is extremely similar clinical entity to GPA, although the pathology will be very, very different. Ok, but clinically very, very similar. Um but is also much less common than even GPA, which is already fairly rare. Um So here again, the pathology is notable in GPA for granulomas, you'll have the vasculitis and the granulomas versus in MP A, you will have vasculitis without granulomas, generally speaking. Um So the major aerodigestive manifestation here is subglottic stenosis. So you can have laryngeal or tracheal stenosis. Um and really, really important because this is much more common in kids than adults. So, in kids, this can even be an isolated manifestation of GPA. So it's really something to consider any time you see subglottic stenosis um but then of course, what other things should you be looking for if you're considering this diagnosis? So it is most commonly a pulmonary renal syndrome, right, affecting your lungs and kid. Um though can of course have constitutional symptoms including fever, fatigue, weight loss, um and less commonly can have sinus disease, right. This is a little bit more common in E GPA, right? Eosinophilic granulomatosis with polyangiitis, what used to be called church Strauss. Um But you can have that in GPA as well, can have ent disease. So definitely see hearing loss in these kids, sometimes um arthritis, rash and of course, there you know any possible manifestation, but these are the things we more commonly see. Um So when I talk about work up, I really, really stress starting with a good history and physical. I think people are really quick when it comes to rheumatic disease, to rush to labs, especially in A N A, which is just not always helpful. So really like you're all better than, right, everyone's better than anything. Start with a really good history and physical and it's gonna give you so much information and direct you. How concerned should you be, should you be making that refer right away? Um then supplement that with blood work. Um So, of course, in most of the diseases that we're discussing today that are systemic autoimmune or autoinflammatory disease, um you'll likely have elevated inflammatory markers though these are non-specific. Um here, of course, anca will be important as well. Um And then studies to rule out other potential diagnoses, especially infections can be very important. Um then imaging as appropriate. Um So of course, imaging of lungs, you know, any other body part that seems potentially involved. Um and finally, biopsies. So, you know, the work up for a lot of these things will be similar. So what I'll say now is I love skin biopsies. So we we're stuck doing all these um serum markers as surrogates for what's happening at the tissue level which are imperfect. Um So when you actually have rashes and you're not sure what's going on skin biopsies are amazing, right? Because it's a really easy, you know, not invasive way of knowing what's happening at the tissue level. So I love skin biopsies and then of course, one might need biopsies of other involved areas when the diagnosis remains unclear. Um So just basic principles of management and you know, this is when you're going to refer to me, but I think it's great to be aware. Um So, immunosuppressive treatment is of course the mainstay of therapy. Um So initially, we'll be giving steroids, whether it's post dose or high dose steroids depending on severity of disease. Um riTUXimab is often used for induction of remission, the less intensive therapies um are used for mild disease. You can also use um cyclophosphamide though riTUXimab was shown a long time ago to be non inferior with a better side effect profile. So we generally use that. Um there are many options for maintenance of remission, which we usually like to maintain remission for two years before trialing taper, which is often successful, right? There may be flares of disease later. Um but you can often get periods even long periods of remission off of medication. Um One important thing, you know, we I can rarely talk about new drugs. Um There is a new drug of Aan um which is AC five A inhibitor, which is really gaining traction um as a good drug for maintenance of remission um that allows for greater steroids bearing treatment. Ok. So the next thing I'll talk about is sarcoidosis. Um So I tried to include pictures because I am not nearly as entertaining. I am not an actor. Um But so these, this is more of an autoinflammatory disease as opposed to autoimmune. Um It's a growth of collections of inflammatory cells in different parts of the body. This is associated with no two mutations. So similar to IBD, but it's gain of function versus loss of function. So a little bit different um pathology here, again, notable for granulomas, right? So, unlike GPA, where you have the vasculitis and the granulomas here, you will not really have vasculitis, but you will have those granulomas. Um and it's really again, a heterogeneous disease with varying manifestations. Um and important to note, right, that kids can have early onset sarcoidosis, which can be sporadic, they can also have bowel syndrome, which tends to be much more specifically with genetic causes that have been identified. Um And I just have here, you know, a histologic picture of a granuloma and then a description of really what's included in those granulomas. Um So, in terms of aerodigestive manifestations, you can have nodules or granulomas in the airway, which can lead to dysphasia, paralysis and upper airway obstruction. Um So, definitely not uncommon. Um if you are considering sarcoidosis, the other things to look for. So it is most commonly a pulmonary syndrome, though this is a little less common in kids than in adults. Um You can also have lymph node proliferation and enlargement, constitutional symptoms, rashes, panu Vitis and arthritis. I will say again, you know, I always say the, you know, pediatric rheumatic disease is the same as there are slight differences, but it's the same. So adults will more commonly have lof burn syndrome, right? That classic triad that I think everyone learns about in medical school of fever or theos and higher adenopathy kids are less likely to have the higher AEN a little bit less likely to have um pulmonary symptoms um but can have BLO syndrome. So this is like a more classic triad for kids really, um rash, arthritis and uveitis. So, more of the symptoms that you want to look for in kids. Um So in terms of the work, the work up again, thorough history and physical, right. I'm gonna keep saying that trying to really nail that home. Um then in terms of blood work. So again, systemic disease, your inflammatory markers are likely to be elevated. Um The other things that I find most helpful here are ace lysozyme and soluble il two receptor. So, ace and lysozyme are both sort of secreted um by the granulomas so that you can have the elevated I ace is often elevated in adults, not so often in kids. Um but when it is, it's very helpful lysozyme. On the other hand, there seems to be like a lower threshold in kids for elevation and it can be helpful and then soluble A L two receptor also elevated often in autoinflammatory disease, right? Things like ma S. Um But again, when we use these because all our markers that we use are pretty non-specific them in combination can be helpful, right? So if I have an elevated lysy and soluble il two receptor in a kid with a phenotype, consistent with sarcoid, that's pretty much gonna give me my diagnosis. And again, important to do studies to roll out other diagnoses. So I have the same thing here, right? Imaging as appropriate, right? So we're talking about mostly um chest imaging, right? Looking for pulmonary disease, looking for lymphadenopathy, um and then biopsy as needed, right? Maybe of lymph nodes. Um And again here, it's i it's just so important to say that this can be particularly difficult to distinguish from TB and that's really important and sometimes you're left kind of treating for both. Um if you're uncertain because you know, better to treat for both basically and kind of treat for this possible sarcoidosis but also treat for um TB in the meantime, while you're immunosuppressing. Um so again, principles of management, immunosuppressive treatment, of course, that here also we're initially giving steroids, pulse dose versus high dose, um depending on severity of disease. Um And then there's many options for continued sp steroids, sparing treatment as needed. Um And it's a lot more variable. So some people will really have very um short-lived disease that can be treated quickly, resolves quickly and you can get them off treatment um quickly. Um Some on the other hand, will really need up to two years of treatment with then trial of taper. So, as opposed to in arthritides where it's a shorter period in most of these systemic diseases, we do two years before trial of taper. Um ok. So the next one I'm gonna talk about is juvenile drom myositis or JDM. Um So this is a rare autoimmune inflammatory myositis with a vasculitic component. Um There is seasonal clustering which which suggests a role of infections as triggers. Um And I always, this is important again because these diseases are the same, but with some differences and this is one of the biggest differences in adults. Dermatomyositis is almost always a paraneoplastic phenomenon. So, if you see this, you want to go looking for a malignancy. But in Children, it's actually almost always a stand alone entity where you don't need to look for underlying malignancy. But that's why, you know, whenever I have like an 18 year old, I'm gonna make sure I just that, you know, that there isn't an underlying malignancy. Um So in terms of aerodigestive manifestations here, it's primarily caused by muscle weakness. Um So you can have dysphasia right from bulbar weakness, um or you can have difficulty breathing and a restrictive lung disease pattern with um chest wall muscle weakness. Um And you can also have abdominal symptoms secondary to vasculitis. Um So additional manifestations to look for here. So most commonly, we're looking for a symmetric prox, proximal muscle weakness and rash. So, in terms of the muscle involvement, again, classically, it's that proximal muscle weakness, right? The kid with, you know, trouble brushing their hair or trouble going upstairs. Um because it's those proximal muscles that are involved. Um But really any muscle can be involved and then in terms of the rash. So this is one of my, this sounds ridiculous, but one of my favorite diagnoses. Um So there's really some patho mic rashes here that are fascinating. So the top picture is the heliotrope rash, right? So that, that vicious rash completely around your eyes. So it looks different from allergic shiners, which will be under your eyes, it's fully around um which is really only seen in JDM. And then the bottom picture is the goons, papules, right. Those papules generally on your proximal um joints of your hands, which are also patho mic. For JDM, you can have tons of other rashes. So a malar rash right in lupus, the malar rash tends to be nasal, labial sparing in JDM. It tends not to be nasal, labial sparing. So going with that, you can also have erythroderma, which is basically just a bright red face. You can also have the shawl sign where you have red face and red neck. So basically very red. Um but these are the patho amount of rats and then many other possible findings. So of course, you can have lung disease, cardiac disease, ocular disease. And certainly you can develop calcinosis. This generally happens in kids with uncontrolled disease, but can happen even with well controlled disease. Um and basically, it's literally these like deposits of subcutaneous calcium, they can be very painful and very uncomfortable and they can get secondarily infected. So that's why they can be a problem. And you know, worst cases, I have one child with universal calcinosis even though his disease is well controlled and it's even causing contractures of some joints. So it's it can be a problem. Um So in terms of the work up, um again, thorough history and physical exam here, you're specifically going to want to look for muscle strength testing and rashes. So I do always say here, um, as opposed to doing the manual muscle testing in the classic neurologic exam, I find, you know, a lot of young kids will have this and it's really hard for them to follow those instructions and really participate in the exam. Um, so I do much more simple maneuvers, um, to assess muscle strength things like, you know, hold your arms up for 30 seconds for 60 seconds, as long as you can. Um, you know, I'll have them basically do like a crunch, right. Keep the top half of your body up. Can you keep it up? Can you keep your neck off the table? Um And things as simple as sit crisscross applesauce on the floor and then with your hands in the air, get up. So without using your hands and those are really simple maneuvers that young kids can participate in that will give you a good sense of their muscle strength. Um OK. So then blood work is really important here. But again, so it's inflammatory markers likely to be elevated. Um, then muscle enzymes. So I always stress her, people always think of CPK. But if you picture those graphs that we all learned in medical school, right? Of, you know, when you have a heart attack and your CPK goes up really, really quickly and then it goes down really quickly. Right? There's a huge spike, but then it comes down quickly. So if you only send CPK, you might actually miss that spike and get to that very quickly burned out phase of CPK. So it's really important to also check a ST and A LT, which can be reflective of muscle pathology. Um, aldolase and L DH, um, and those together can be really helpful. Um, there are myocyte specific antibodies. I don't find these terribly helpful and I don't always check. Um, I think they're most helpful when the, when you're not really sure if it's dramatic myositis at all or when you have a really weird clinical phenotype and then, you know, you'll, you'll find a specific auto antibody and that's really consistent with, you know, the few other cases that have been found and it makes you feel more comfortable that you're dealing with the right thing and can help give more guidance about treatment. Um Again, imaging is appropriate biopsy as needed. Um And classically, this is a place where muscle biopsy was really the gold standard. We used to do EMGS and I shouldn't say we people used to do EMGS. Um but MRI has really supplanted those um so that they're rarely needed. Um OK. And then principles of management. So again, initially steroids, um post dose versus high dose, this is one place that I always stress in most diseases. I try to taper my kids off steroids very, very quickly. This is one place where it's really shown that a slow taper over a year can be really, really and then you actually don't want to take their steroid away quickly. Um, or they, they might not do as well. And then many options for continued steroids bearing treatment because these kids generally need one year of treatment if not a little bit more before really trying to taper. Um, and then, you know, hopefully discontinue. Um, ok, so I only have a couple more. Um, Let me see how I'm doing on time. Ok. Um ok. Ok. Um So the next one I'm gonna talk about is polyarticular ji A. Um So this is one of the types of juvenile idiopathic arthritis. And I, again, I always think people know the adult diseases better. So the adult carlet here is rumor arthritis. So this is basically rheumatoid arthritis in kids. So there's a strong female predominance. Um most commonly consists of symmetric small joint arthritis. Um although of course, other joints can be involved, especially wrists, um Mandible and C one C two. So again, the classic joints that are involved in R A. So here, the aerodigestive manifestations are esophageal dysmotility, esophagitis, um can have dysphagia secondary to TMJ or C spine arthritis. And it is important to say there's an increased occurrence of IBD in kids with polyarticular ji A. Um So additional manifestations. So, of course, you're gonna be looking for arthritis, right? Most kids, if they have any aerodigestive manifestations should really have arthritis. Um And reme right. So that's really looking at the joints and seeing is there swelling, is there warmth, is there tenderness, is there decreased range of motion. We rarely see erythema and chronic non infectious arthritis. Um You should really be thinking infections if you see erythema. Um and then of course, can also involve constitutional symptoms, lung disease, hepatosplenomegaly and rheumatoid nodules. So here, the top picture is rheumatoid nodules very rare in kids, but it's you know, an interesting picture. And then the bottom picture is really that symmetric small joint arthritis. Um So in terms of the work up, again, thorough history and physical right, your evaluation for arthritis, which is really clinical, not blood work at all is really, really important. Um then your blood work to supplement this. So again, inflammatory markers, this is one place where I stress that they may or may not be elevated. So if they're elevated, that helps you know that something is going on, but they might be completely normal. Um And then of course, things that will be helpful to check here are rheumatoid factor anti CCP, which is the other antibody that we know can be positive in rheumatoid arthritis or polyarticular ji A. Um and then again, studies to rule out other potential diagnoses. And usually when I say that we're talking about infections and then potentially imaging as appropriate. This is a place where biopsy is virtually never needed. Um So principles of management. So here we rarely require steroids. Um But there are many options for treatment. We usually start with either methotrexate or anti TNF therapy. Um And then next lines are things like aisle six blockade Actemra, um abatacept riTUXimab Jack inhibitors and, and the list goes on. So I think this is my last disease that I'm going to talk about. Um So Sjogren's disease is another rare autoimmune disease um which can have coincidence with Lupus and R A rheumatoid arthritis. Um So most commonly leads to Sica Syndrome. So dry eyes and dry mouth um but can have many other manifestations. And again, is another really heterogeneous multisystem disease. Um So, the aerodigestive manifestations here are really dysphasia more than anything. Um though there can be an increased incidence of celiac disease as well as liver dysfunction and autoimmune liver disease. Um So the other things to look for if you're considering Sjogrens. Um again, Sica syndrome, which can lead to um loss of taste, dental cavities, ulcers right from that dry mouth, um constitutional symptoms, fever, fatigue, weight loss, um can have arthritis here. You can have enlarged lymph nodes and salivary glands and protid glands. Um You can have rashes and of course many other possible manifestations. Um So the work up again, thorough history and physical right. If you hear Sica Syndrome, you should be thinking Sjogrens more than any lab will ever tell you. Um But in terms of the blood work to supplement here, again, your inflammatory markers will likely be elevated. By the way, when I say inflammatory markers, I'm generally saying ESR and CRP, right. So ESR being a little bit differentially elevated in chronic inflammatory disease as opposed to infections where your CRP is more likely to be differentially elevated. Um then your antibodies that are important here are your anti R and law. Um Your RF can also be positive here. Um Quantitative immunoglobulins are actually important. Your IgG can be elevated. So, you know, of course, we all know Row and Law. But I find um when I see um a positive anti Rowan Law, a positive RF and an elevated IgG, I'm really thinking Sjogren's that's like, you know, you've got it in the back. Um And then of course, studies throw out other potential diagnoses, imaging and biopsy as appropriate. Um and then principles of management here. So, depending on severity of disease, you can actually start pretty mild with your treatment here. Um And when people just have a, you know, basic sickle syndrome, you can just give topical treatments. Although then additional agents kind of um going in increased um severity or Plaquenil steroids, methotrexate, inflex, IAB and riTUXimab. Um and really importantly, G I symptoms will generally resolve with treatment of underlying disease. So, again, these are manifestations much more likely to occur with poorly controlled disease. Um So, rheumatologic disease is rare. Um but you of course, can have important aerodigestive manifestations. Um It's important to evaluate thoroughly when something seems off or there's an extra symptom um start with the history and physical exam and then use lab analysis, imaging and biopsy to supplement this as appropriate. And then I always put a cute picture because again, no actor here.
