Richard M. Keating, MD, FACR, FACP, explains how to recognize and diagnose a Systemic Autoimmune Rheumatic Disease (SARD) in patients presenting with Pulmonary Hypertension. Dr. Keating identifies how to simplify the approach to serologic testing for the SARD diseases, and also recalls that SARD diagnosis comes from HX and PE, not from serologies.
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Dr Keating is the head of the fellowship program for rheumatology here at scripts. Uh, he has a wonderful way of helping us understand the ins and outs of rheumatoid rheumatology and also rheumatologist testing, especially in regards to patients with pulmonary hypertension. So his lectures are always a big hit. So thanks for coming back to us, Richard. And you got 30 minutes, my friend. I'll stick to it. Thanks very much. Good morning, Everybody. Okay? And I have nothing to declare. So my goals this morning are too talk a little bit about the systemic autoimmune rheumatic diseases. Connective tissue diseases are old term or we call them swords. And they are diseases. And rheumatology can be the cause of pulmonary hypertension in each of the wh groups that we've talked about today. So what I'd like you to do is walk away with a little bit of an improved skill at recognizing and diagnosing a sword. If you have a patient who you have evaluating with pulmonary hypertension also simplify your approach to serological testing. If you decide embarked upon some neurologic testing and then really to emphasize that these diseases that I take care of regularly the diagnosis comes from history and physical and not from serology. So let me let me help your review what you probably already know about some of the physical exam findings and historic findings that will help you pick up these diseases when you're trying to figure out why they might have pulmonary hypertension. So again, um, you know, the W H. O has broken this big field of pulmonary hypertension down into the five categories. 1234 and five. And everybody has been talking about the East today and will continue to. So when I comes to rheumatology and the rheumatologist diseases, the ones that we see that again involved in causation for pulmonary hypertension include scleroderma, mixed connective tissue disease, Lupus, rheumatoid arthritis. Rarely chagrin is probably my sinusitis, sinusitis and a newer condition called, uh I path, which is basically what we used to call CTV associated interstitial lung disease. Now it's called interstitial pneumonia with autoimmune features, and I'm going to concentrate on the rheumatoid logic diseases. The ones I just mentioned it get involved in Group One and Group three, and I'll leave the other speakers to talk about 24 and five So what I'll do is I'm gonna I'm gonna review a little bit each of the rheumatoid logic diseases first give you a little reminder what they look like and how they present. And then I'll talk about the pulmonary hypertension aspect within that disease. So scleroderma is a disease that, unfortunately made more difficult by the confusing nomenclature. If you think of scleroderma the way we in rheumatology look at it, we break it down into localized disease, which is basically patchy fibrosis of the skin. More FIA spelled here in the English Way or linear scleroderma, which is you see this in Children where they have basically a half of the face can be involved. You can forget about this right away. We're worried with pulmonary hypertension when they have systemic scleroderma. And again, the nomenclature gets people in trouble. There's a condition called limited systemic sclerosis. Many of us of a certain age grew up calling that crest That's a systemic disease, but they kind of confuse you by saying limited here. And then there's, um, what used to be called progressive systemic sclerosis, which is diffuse disease. So this is limited skin disease. This is diffuse skin disease. And then there's a rare bird who will have scleroderma without skin disease. Um, that's a tough one to pick up. But if you have somebody who you think might have scleroderma without skin disease, you're a really good clinician. Um, scleroderma, like Dr Mohan talked about. It's a vascular apathy. So think of the vascular apathy slide he showed of what's happening within the pulmonary vasculature. The same thing is happening in the said to yourself in the camera friend. I just got a message to Am I in the right place? Um, go ahead. It's clear to me, is really we don't know what causes it. It's very difficult to treat. There's no sure, but it starts as immune activation, followed by vascular apathy, followed by vascular injury, followed by fibrosis. So that's a familiar theme this morning. Women getting more than men, usually in their fourth to six decades, again limited disease what we used to call Crest Diffuse Disease, which we used to call progressive systemic sclerosis. But both of these are systemic diseases. Both of these are associated with pulmonary hypertension, so the clues that somebody may have scleroderma are rain. Odds, especially if it's new. A lot of you know women starting in their teen years in high school will have rain odds, and they'll continue that through life. But if you meet somebody who is now in their thirties, forties fifties sixties and they have new Reyna's, you really ought to perk up and pay attention to that. They may have puffy fingers, which is supposed to be depicted here, where basically they feel like they're wearing a glove. Uh, their hands. Their fingers just don't function like they used to work quite as well. If you put on a pair of ski gloves, you know what I mean. They have access to land kicked ages. They may have this arrhythmias. Uh, they may have interstitial lung disease and dry rails on physical exam, and they can get digital pitting or ulcers. Um, rain odds. So what I do and I want to figure out if somebody has reigned knows, I say, Can you hold a can of coke or a beer, preferably a beer in your hands, and not have your fingers become uncomfortable turned color? Get pins and needles Sensation. Can you form a hamburger if you're not a vegetarian from cold ground beef and make a hamburger. Patty, do you avoid the frozen food aisle at the supermarket? Answers to any of these being yes should really clue you in the rain. Odds. And then a purists will say you should go through the three phases here. White, blue, red. First they get a little bit of ischemia, then they get cyanosis and then they get a rebound. Rubber or erythema. It should not come more proximal than the finger itself. So approximate to the M. C. P. S. The vessels are too large here to really see the vase a spasm. That is what you pick up when you when you see rain odds in a person. So always ask about rain odds and be tuned into the fact that it can be one finger, 10 fingers, three fingers on one hand, none on the other, all 10 fingers. It doesn't have to be, uh, you know, every every part of the extremity. So look for excess to Atlantic cages. This isn't realization. These are excess to Atlantic pages. You'll see them on the face. Peri oral on the tongue inside the lips. You'll see them on the fingers on the palm's if you want to get very low salary and you can do, uh, some capillary microscopy. And if you go 1234 we do this in clinic. We put a little immersion oil on a fingernail. Then we use a dramatic scope and we look at normal capillaries here, uh, actually should be 12 This is number three. This is what you'll see in progressive scleroderma, dilatation of the capillaries, and then eventually, virtuosity. Drop out of the capillaries and distortion of the capillary architecture and look for these puffy fingers. So all these things are what we look for when we're wondering if somebody has scleroderma. If they have lung involvement and they often do. Pulmonary disease is very common. It's the leading cause of death in scleroderma. So the majority of our scleroderma patients will have interstitial lung disease and and fall in the Group three who classification when they have pulmonary hypertension. But a percentage of them will have Group one where they have pure pulmonary artery hypertension. Um, the I D can occur in both the limited and the systemic forms, and that's really important. So many people get stuck at this term limited and think, Oh, well, limited scleroderma means they just have this more FIA and they can't have systemic complications. They sure can. In fact, more people with limited disease probably developed disease than do um, um, systemic, even though I've got it. Well, it's actually about equal, but a lot of people with limited disease can end up with pulmonary artery hypertension. Uh, it's the most common Sartre, or connective tissue disease causing pulmonary. Hypertension is scleroderma, usually within the first through few years of disease. So often you may be the one who picks up the fact that they have scleroderma because it's going to come soon. The disease is going to come around the time of the pulmonary hypertension. Uh, it's more common in limited disease than in diffuse disease is what I was trying to say here. But I reversed it. The three year survival for pulmonary hypertension in scleroderma is about 50 per 6% versus if they have it from, uh, if they don't have pulmonary hypertension, Um, and again, you only see pulmonary hypertension when you have the systemic form of scleroderma that can be limited disease or crest, diffuse disease or progressive systemic sclerosis. Um, a little bit on serology. Now, we gotta we gotta get into that subject. So I went into rheumatology because I couldn't fake it much longer than I understood physiology. And even though I didn't want to be a cardiologist for a while, I realized I was never going to make it. So I had to switch over to a completely different field. And, um, I went into rheumatology, and we do have the reputation of, you know, ordering a bunch of useless tests that don't make any sense to take forever to come back. And usually the patients either diagnosed or um or deceased or better by the time we get these labs back. And this is a good slide, showing you the confusion that can be involved in laboratory testing for scleroderma. Basically, let us help you when it comes to the laboratory testing. But we can simplify this a little bit. Um, I just want to address the idea of trying to do serological testing for rheumatoid logic diseases. So I know we've all been there where we were at morning report as a resident or fellow or you know we're presenting a case to somebody, and the quote is made. We got a set rate and a and A and a rheumatoid factor to check for some autoimmune disease. We all do it. Um, it doesn't work, though. There's really no screening lab or autoimmune panel you can reach for that are both specific and sensitive enough to identify all these autoimmune diseases with one draw, Um, and that's what allows me to stay employed. All room lab testing requires clinical correlation and context. Really interpret the results, and you should use the results of these tests to support or refute your clinical impression. Really, not to create one in terms of a N A. It's very good screening for Lupus. That's all it really is. Very good for. Most people with scleroderma will have a positive and a but you can't use the A N A to screen for all rheumatoid logic disease or you'll get in trouble. Um, and I woke the labor that point a whole lot more. The best screen for scleroderma really is your history and physical and talking about Ray nodes. I think it's a it's a really, really rare patient and I've yet to see one who has scleroderma without rain odds. So Reyna's is really more important than the A n A. Or any lab test, if you are going to. Yeah, look for serology is to suggest scleroderma, especially scleroderma lung involvement. So this interstitial disease with Group three there is a panel you can get now. I made this slide for the fact that a lot of people who attend this course are in the script system. You can get these panels in a number of different labs, but in the script system, it's pretty easy to get this through. Care up. It's a miscellaneous panel to a broad, which is the University of Utah Laboratories, and this panel is very nice to look for. A number of these autoimmune serology is that are seen with the especially with the I L D pattern of Group three for scleroderma. But again, less important than these labs are these sort of questions. Do they have rain notes? Do they have puffy fingers? Do they have dysplasia or reflux? More talent picked ages than just one or two? This rhythm is interstitial lung disease findings, digital pits or ulcers in pulmonary hypertension. If you get an antibody in a central, we're back where you get an anti. Several are an antibody, which you can get from these panels. That's really pretty, uh, suggestive of a cause for pulmonary hypertension. Also, this anti th t o antibody. So these three, which are in this panel, are very helpful. Um, not so much at diagnosing coronary hypertension, but looking for the, you know, the autoimmune cause of it. Louis, I'll switch on the Lupus Now. Chronic inflammatory disease can affect any organ Women more than men, very common. 34 decades. They always have a positive and a you can get burned because it may disappear temporarily for a little while, but it will be back. They also have. If you see somebody who has antibodies to Smith or double stranded DNA when it's done by i f. A technique, um, they have Lupus, and that's a really pretty fair bit, Um, and they can also have any fossil limits. We'll talk about that a little bit when we talk about CHF. Um, pulmonary hypertension is pretty uncommon. Complication of Lupus seen much less than 10% of patients. If they If you have a Lupus patient who has pulmonary hypertension. They're probably going to have rain knots. Uh, if you have a Lupus patient who has recurrent pes and they have, you know, see tougher group for pulmonary hypertension, check for any fossil that anybody is. The easiest way to do it in the script system is the a P s e val with drv BT this is the lab you want to order because it does, uh, anti cardio life and beta to like a protein, Lupus anticoagulants and a corrected p T T l A. So that this gives you everything If you just order any cardio life and you don't get these other two. So this is the test you want. If you're at a scripts facility, um, and quick slide just to say if you're going to have pulmonary hypertension from Lupus or from scleroderma, you'd rather have it from Lupus because your survival is going to be better than if you have it from scleroderma. Chagrinned is a multi system disease. It's not just dry eyes and dry mouth. It can also be interstitial findings. You can have our, uh, liver involvement, especially PBC. You can have a lot of G. I, uh you know, difficulties. Um, but Children can lead to pulmonary involvement, And when it does, that can set you up for group three pulmonary hypertension. There is a lot of different types of I l. D and Children's. That's more than we really need to get into Children's will. Often be S s a positive, but not always about. Only about, um, 60% of Sherman's patients actually ever have this essay. They often are are f positive. They often are a in a positive. So you're not wrong by doing these labs? Uh, but you just have to be careful with not over interpreting the results of the lab. Mhm are a are a you don't really have to worry about. Our patients generally don't get pulmonary hypertension. It's a chronic inflammatory disease. Most people know somebody who's got are a swollen tender joints, M. C, P S, P, I. P. S. And they have this this newer antibody CCP. Anybody is president. Two thirds of people with rheumatoid arthritis. It's possible to have pulmonary hypertension, rheumatoid arthritis. If you do, it's going to be in Group three because they're going to have interstitial lung disease, but it's not that common. Um, mostly they have interstitial lung disease and just shortness of breath and cough from that holly Maya Citizens Armada Maya sites. Now these are interesting diseases that have proximal muscle weakness. So they're weak up around the shoulders and the hips, usually painless, proximal muscle weakness. They have reflux, esophagitis, motility, CK elevation calculus is cutest, which is a painful calcium deposit in and along, uh, just underneath the skin that can break through the skin. You can have a rare person who has something we call cattle, which is clinically a myopathy. Dramatic decided. So they have the skin findings without the muscle findings, but they have a rapidly progressive I E l d. We have two or three of these patients a year to end up quickly coming into the ICU, and often dying treatments are really pretty inadequate for it. Um, within the large within the category. Polly mine sites. Dramatic sinusitis is something known to many of the pulmonologist anti sympathy syndromes where they get sinusitis fever, Reyna's I E. L. D. Something called Mechanic's hands, which looks like eczema. It looks like a guy who might work at Meineke Muffler, but they don't and they have this really nasty rash along the palm's and the sides of the fingers. They can also get these Perry angle changes. So I bring this disease up because it can be associated with pulmonary hypertension. So you want to be aware of it and look for these things on the physical exam. Look at the skin. Talk to them, you know, do a good review of systems. Um, I'll be is very common in this disorder. The anti sympathies anybody's can be ordered as a panel. Most people have heard of the Joe One, but there's a number of them here. Um, I have a young girl just recently got diagnosed with the pl 12. The major determinant of morbidity and mortality is driven by the Associated I e l d. And then, if you get ill, d you can end up with pulmonary hypertension in the Group three world. Yeah, So the my my side of spectrum antibodies are just as confusing as the ones for scleroderma. Probably even more so. Um, and I won't be labor this. I will try and make it a little simpler for you and tell you that you can do this. Maya site is extended panel through the air up lab in Salt Lake City, the University of Utah. Or you can work with rheumatology if you have somebody. And you're worried about one of these conditions, especially if you're attending in the ICU and somebody comes in and they've got I l d n a C k that's in the, you know, 10 thousands. And they're they're doing, you know, pretty poorly. And you're worried about one of these conditions. We can get these and get them turned around pretty quickly, maybe within you know, four or five work days. So M C t recognition um M C T D stands for mixed connective tissue disease. This is a disease that has overlapping features of Lupus, scleroderma, inflammatory, my sinusitis and the presence of this antibody called R N P. So pulmonary hypertension is probably as hot is probably as I in, uh, M C t D. As it is in scleroderma. It's more common diseases more common in women and young women, and at that it may progress and evolve into either scleroderma or Lupus. Uh, if the RMP is absent, then they don't have m c d. Because M C T. D is theologically defined. And, um, they'll get puffy fingers. That's really the cynic. Went on again. They get pulmonary hypertension. It can be relatively rapid in onset, with or without L D. So they'll go into Group one or Group three and they have this I n A. I'm sorry. They'll have an a n a. And they have this RMP um, we get a little terminology. Um, tutorial here. Classification criteria. What we use in rheumatology for study entry, they're not used for individual patient diagnosis. Um, we're aiming for homogeneity in studies when we come up with classification criteria, so you don't have to meet classification criteria to diagnose a patient, you just have to meet classification criteria to put the patient in a study. Mexican active tissue disease, then, is, as I just said, the presence of RMP with overlapping features of all my diseases. Um, undifferentiated connective tissue disease means they're in the right clinic, but we don't know what's wrong with them. Overlap means they have criteria. They're meeting classification for more than one disease. So a lot of times, what will happen is people will confuse these two terms to say, Well, they've got something autonomy and we don't know what it is and will label them as M. C. T. And that's not quite right. You really want to see this antibody to get the term right? Not a huge deal outside of rheumatology, but within rheumatology. It's important because we want to be able to better classify them. Um, so a little bit of a quick review Assess your patient with pulmonary hypertension. Look for rain on its fertile agitations. Look for interstitial lung disease. Look for puffy fingers squared actively lymphatic neuropathy, reflux dysplasia, Maya cities, rashes, pitting of the distal fingertip. Uh, small joint inflammatory arthritis and periodical changes. The history and physical are really a lot more helpful than ordering a slew of serology. Um, pulmonary hypertension is highest in scleroderma, possibly as high in mixed connective tissue disease. That disease that looks like a little bit of everything, but they have the R, N P, and the RMP is easily ordered. Uh, dramatic mastitis and poliomyelitis with interstitial lung disease or any of the syndromes can give you a Group three. It's less common to see pulmonary hypertension in Lupus and Sjogren's. It's pretty uncommon and pretty rare to see it in room between arthritis. Um, when I just said it's most common in scleroderma and mixed connective tissue disease. I love this range here, and then it drops off after that. So if you if you just wanna, you know, concentrate on these two diseases, you're going to get probably three quarters of what this talk is really all about. Um, a little bit of the NFL on interstitial pneumonia with autonomy features. This was a newer, uh, concept that came out in the last couple of years with the pulmonary and room people. Not so much in cardiology. That sort of looks at the patient who has interstitial lung disease, but we're not sure if they have an auto immune disease. And we've come up with this classification table to sort of help us sort through these patients and come up with a disease classification to to put this group of people into a study. And I only bring this up because what it points out is the similarity of all these rheumatoid logic diseases in pulmonary hypertension. You know, we're always looking at the same sort of clinical features. Do they have finger findings? Do they have distal alterations? Do they have to Atlantic occasions? Do they have rain nodes? What are their serology is looking like and they're pretty much the serology as we've already mentioned, Uh and then what sort of I l d do they have? And we now have this interstitial lung disease panel, which I don't suspect you'll be ordering. Let rheumatology help you with that, but it's It's an overlap, really. Of the panels that we've already talked about. Um, this is just the guideline from the, uh 2015 European. Um, uh, I can't remember what he had to Central European Society of Cardiology in the European Respiratory Society when they talk about pulmonary hypertension and it's important to remember, blood tests are not useful in diagnosing pulmonary hypertension but required to identify the ideology of some forms, as well as to look for end organ damage. And up to 40% of patients with pulmonary hypertension have elevated nuclear anybody's Italo tighter. Lots of people have an A and A, and it can get you into trouble if you put too much weight on it. It's important to look for evidence of scleroderma, since this disease has a relatively high prevalence of implement of pulmonary hypertension. Again, just having an a an A does not mean you have a disease. Most of our consults are for a positive and a and probably less than 5% of the people we see who come in with a positive and really have anything autoimmune going on. So I'll try and summarise on this slide. Uh, if you have this condition, this column is sort of what you might consider ordering. Now, this is for people who use EPIC. But the principle applies in any any setting scleroderma, Lupus or yes, get an A an A I would ask you to get it by I f a not the e i A that they have as a pick in our lab. The I f A is more sensitive. If you think they have crest or scleroderma period, go ahead and order the central near antibody. If they have i e l d. You can get the SCL 70 or or a better idea would get the comprehensive scleroderma panel because I don't give you everything for ill for scleroderma Associated i e l d If you think they have i e l d in polymer sinusitis, Dramatic sinusitis. Uh, reach out for that University of Utah. My aside, this panel Lupus, get a double stranded DNA. I'm not going to read each line here. You can do this yourself, but this is potentially helpful for you. You can refer back to it. It's probably easier, though, to just send us an email or give me a shout and I'll help you walk through which ones to possibly order. So in summary, um, look for clinical features of scleroderma and mixed connective tissue disease and Group one. Look for features of polymer sinusitis, dramatic sinusitis, Lupus, the any sense that a syndromes, pilgrims or even our in Group three. The diagnosis of autoimmune disease comes from the history and physical and pattern recognition of the presenting clinical features. There's really no screening test that's going to catch all these diseases. The best screening test is your history and physical and use these tests to confirm your clinical suspicion. It's kind of fun to make the diagnosis, and then when the lads come back and say, you know, see, I told you so, um, you look like a hero, then, um, so I'll stop. Um, and I think I'll get us back on schedule a little bit. Mhm. So one question was, uh I screen my pulmonary hypertension patients with an A and a rheumatoid factor. Said rate, and then I sent him to rheumatology. What do I think of that strategy? I think it's great. I'm we're happy to do that. Um, What I What I worry about is if you if you scream with those things, um, and their negative, But the patient still has some teletext pages or they have ray nodes. Or if they have, um, some other clinical features, you might be selling them a little short. So we're happy to see them just as just as readily. Okay. Thank you. That was great. As usual. It's It's nice to see a good physical come in there. And, uh, you know, I have made one diagnosis. Is Claire German and patient with Ph? I mean, definitely had rainouts, and, you know, that was the first time anyone and picked it up, But usually by the time they come to us, it's well, well, clarified for you anyway, uh, but a good, You know, I'm glad you'll you'll accept curbside consults. Those are often very helpful. Uh
