Sept. 30, 2025

When Illness Scripts Fail: A Mystery Case

When Illness Scripts Fail: A Mystery Case

In this special episode, Dr. Mitchell Charap, longtime IM residency program director and master clinician at NYU Langone, walks us through a mystery case that defies expectations. Together, he and host Emily Gutowski explore how illness scripts can both guide and sometimes mislead our diagnostic reasoning, and why the physical exam remains an indispensable tool.

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[SPEAKER_00]: Welcome back to run the list.

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[SPEAKER_00]: Today I have with us Dr. Mitchell Cherup.

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[SPEAKER_00]: He's a professor of medicine at NYU Lingon, the former program director of the IM Residency Program for 20 years, and he ran the Bellview consult service for about 20 years as well.

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[SPEAKER_00]: Dr. Cherup, thank you so much for joining us.

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[SPEAKER_01]: My pleasure.

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[SPEAKER_00]: Today we'll be doing a different kind of episode.

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[SPEAKER_00]: We'll be diving into a mystery case when that challenges our use of illness scripts.

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[SPEAKER_00]: So without giving too much away, Dr. Cherup, can you first tell us why you were interested

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[SPEAKER_01]: I think as medical educators, we frequently use illness scripts to help us evaluate patients.

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[SPEAKER_01]: It provides a framework for diagnosis and for treatment, but we also recognize that there are many factors that affect illness scripts, whether they be socioeconomic, the age of the patient,

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[SPEAKER_01]: In the hospital, when we see a patient with sarcoid, the illness script is usually somebody with severe cardiac or pulmonary disease, but when we see the patient in an outpatient setting, it's frequently hyaluradinopathy picked up on a chest X-ray that was done for another reason and the patient is totally asymptomatic.

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[SPEAKER_01]: illness scripts vary, and sometimes they vary so much that they bear very little relationship to the original illness script we had thought about.

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[SPEAKER_01]: And the case that I'm going to talk about today is one in which the illness script that we typically think about for this disease entity didn't have a significant relationship to this particular case.

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[SPEAKER_00]: That's a really good point about illness scripts, and I think especially in training we're kind of susceptible to these biases because we do so much board studying, and I think the way that we're taught to study for boards is with certain associations like you said or extreme manifestations of diseases that will often present more subtly in real life.

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[SPEAKER_00]: So Dr. Charab, why don't you take us into the case?

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[SPEAKER_01]: I'll try to describe it sort of in real time.

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[SPEAKER_01]: I received a phone call early one morning from a 43-year-old male patient of mine, and he was complaining of two days of severe right back in shoulder pain, and he said that this pain had persisted despite his taking endsides.

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[SPEAKER_01]: He asked what I thought he should do, and fortunately, I was in the office that day, and I told him to come in to see me.

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[SPEAKER_01]: I think if it were the weekend, I probably would have sent him to the emergency room simply because of the severe nature of his right-sided pain.

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[SPEAKER_01]: So, as I said, the patient is 43 years old, and he was well until two days ago, when he suddenly developed chest and right shoulder pain,

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[SPEAKER_01]: It began several hours after a prolonged training session in which the patient did both running and weightlifting.

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[SPEAKER_01]: He states that at that time he lifted more weights than usual, the pain didn't develop right after the exercise, but when he got home, he noticed that he developed this pain and when he tried to go to sleep,

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[SPEAKER_01]: He felt the pain was getting worse and worse.

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[SPEAKER_01]: So that's when he started non-steroidal anti-inflammatories and his wife had some acetaminophenin coating at home.

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[SPEAKER_01]: And although it provided some relief, it didn't eliminate the pain entirely.

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[SPEAKER_01]: Despite the pain, however, the next day, he tried to go out running.

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[SPEAKER_01]: But he felt limited by the pain, which he said tended to increase

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[SPEAKER_01]: when he took a deep breath, but also worsened when he was lying down on this right side, it was not associated with cough or fever or shortness of breath.

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[SPEAKER_00]: Any past medical history on this 43-year-old gentleman?

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[SPEAKER_01]: He had hand surgery and arthroscopic surgery sometime in the distant past.

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[SPEAKER_01]: He had a history of kidney stones.

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[SPEAKER_01]: In fact, several months earlier, and it was on the left side.

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[SPEAKER_01]: It got better with fluids.

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[SPEAKER_01]: And when they did a sticky of his abdomen and pelvis, they noticed that there was a tiny stone on the left, but there was nothing on the right.

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[SPEAKER_01]: and the pain abated even though he didn't find the stone and that was again several months ago that's pretty much in terms of his past history his family history was really unremarkable does he take any medications he took finest ride for male pattern baldness but he wasn't taking any other medications he was a very healthy guy you know a guy works out multiple times a week so where's your thinking at this point have you narrowed your differential diagnosis or is it still pretty broad

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[SPEAKER_01]: I thought he had muscular skeletal pain, I thought it was either a muscle strain, or perhaps he had a rib fracture from the exercise.

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[SPEAKER_01]: I thought about a recurrent stone, but I thought that was unlikely because he had no stones on the right.

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[SPEAKER_01]: He only had a stone on the left, and it was only months earlier.

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[SPEAKER_01]: So my sense was this was muscular skeletal pain in another wise, healthy young man.

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[SPEAKER_00]: That seems like the most likely situation.

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[SPEAKER_00]: So he comes into your office, what are his vitals, and what does his exam look like?

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[SPEAKER_01]: Well, well, first of all, he looked incredibly healthy.

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[SPEAKER_01]: His pulse was 60, his blood pressure was 115 over 80.

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[SPEAKER_01]: Respiratory rate was normal.

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[SPEAKER_01]: It 0 to 7%, was 97%.

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[SPEAKER_01]: He had no neck pain distension, no thiromegally.

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[SPEAKER_01]: When I examined his chest, though, I noticed that there was slight dullness, dullness to percussionists, to crease breast downs at the right base.

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[SPEAKER_01]: I went and examined it again, and I found that those findings were still there.

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[SPEAKER_01]: That was a bit of a surprise to me, and he also had CVA tenderness.

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[SPEAKER_01]: Literally touching him on his right side of his chest, posteriorly, he had significant discomfort.

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[SPEAKER_01]: The cardiac exam was totally normal, he had a normal S1 and S2.

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[SPEAKER_01]: I didn't appreciate a murmur.

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[SPEAKER_01]: He had no peripheral edema, his abdomen was soft, non-tendered, there was no organomegaly.

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[SPEAKER_01]: So really a relatively normal exam, except for the fact, when he moved around,

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[SPEAKER_01]: I was surprised about the breath sounds, right?

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[SPEAKER_01]: It was certainly consistent with the plural effusion, clearly Neferylathiasus, so I wasn't going to do that.

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[SPEAKER_01]: And so I thought, you know, could this be a hemothorax?

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[SPEAKER_01]: He said he was lifting more weights.

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[SPEAKER_01]: There wasn't a clear cut indication that there was trauma.

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[SPEAKER_01]: But there was also nothing to suggest that he had an infectious or an inflammatory process going on.

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[SPEAKER_01]: I mean, he had no fever, no chills.

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[SPEAKER_01]: He didn't have a cough.

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[SPEAKER_01]: So I was in a sort of a quandary about why he had this finding on physical exam.

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[SPEAKER_00]: So already we can see the benefit of a very thorough physical exam, which I know not everyone takes the time to do, and something that can easily be missed is decreased breath sounds at the base.

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[SPEAKER_00]: This actually might end up being a major clue to his diagnosis.

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[SPEAKER_00]: So what were your next steps?

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[SPEAKER_01]: So I'm in an office, remember, I'm not in the hospital.

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[SPEAKER_01]: I was able to get an EKG and show normal sinus rhythm, normal intervals, normal access.

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[SPEAKER_01]: I was able to do a urine analysis.

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[SPEAKER_01]: He didn't have any blood in his urine, so it made it unlikely that this was a stone.

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[SPEAKER_01]: And of course, I ordered a chest X-ray.

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[SPEAKER_01]: either to confirm or refute my findings on physical exam.

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[SPEAKER_01]: And the X-ray showed a small right plural effusion, and there were some adolescists above the plural effusion.

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[SPEAKER_01]: It was very difficult to tell whether it was adolescists or an infiltrate.

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[SPEAKER_01]: I really couldn't evaluate the ribs on that film.

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[SPEAKER_01]: It's conceivable there.

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[SPEAKER_01]: But it'd have been a fracture, but I didn't think that that was likely.

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[SPEAKER_01]: So, you know, I'm in the office and other patients are waiting.

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[SPEAKER_01]: So the question is, you know, what do you do now?

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[SPEAKER_01]: I clearly thought that he needed more imaging, right?

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[SPEAKER_01]: Because of the findings on the chest X, right?

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[SPEAKER_01]: And I was faced with a situation where I knew I should order a CT, but the question is whether I should order a CT PE study.

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[SPEAKER_01]: And, you know, there was very little to suggest pulmonary embolism, right?

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[SPEAKER_01]: And he had no dysvia, he wasn't hypoxic, he wasn't tachycardic, he wasn't techipdic.

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[SPEAKER_01]: But I did know that plural effusions are relatively common in patients with pulmonary embolide.

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[SPEAKER_01]: They current to 20 and 40 percent of patients.

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[SPEAKER_01]: who have pulmonary embolic disease.

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[SPEAKER_01]: I know that most of you there would say, well, you know, why don't you order a D-dimer?

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[SPEAKER_01]: And, you know, in the office, I know I can get a C-T rapidly, and the D-dimer is going to take a while.

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[SPEAKER_01]: If I'm sending them down for a C-T, I thought I should send them down for a C-T-P study, despite the fact that his well score was zero.

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[SPEAKER_01]: In fact, any scale you look for pulmonary embolic disease.

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[SPEAKER_01]: He was at very, very low risk.

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[SPEAKER_01]: And a D-dimer might have helped.

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[SPEAKER_00]: Just a note to say, you know, we always learned that there's a certain sequence of events that we should go through before imaging a patient, for example, but it completely depends on the hospital versus the clinic setting, what resources you have available to you, et cetera.

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[SPEAKER_00]: And it sounds like there was something in his story that was maybe just sounding alarms a little bit for you and made this patient feel a little bit more urgent than maybe a different patient might have felt.

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[SPEAKER_01]: You know, I think you're right.

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[SPEAKER_01]: I think there was something unusual about this patient.

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[SPEAKER_01]: There was an interesting interaction that followed the patient's wife with a physician assistant at another hospital and he said, I'll go ahead and do this study, but you need to call my wife and tell her about it.

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[SPEAKER_01]: So I called his wife.

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[SPEAKER_01]: She responded by saying that my husband is healthy.

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[SPEAKER_01]: He has no risk factors for pulmonary embolic disease.

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[SPEAKER_01]: He doesn't have a clinical picture that's consistent with that diagnosis.

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[SPEAKER_01]: And I said, I agree.

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[SPEAKER_01]: I said, but it's also a diagnosis that I really don't want to miss.

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[SPEAKER_01]: And I don't think it's a harmful procedure, and it will give us a lot more information.

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[SPEAKER_01]: And finally, she sort of acquiesce and allowed me to do it.

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[SPEAKER_00]: So what did this DTP show?

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[SPEAKER_01]: Yeah, so I got, you know, an hour later I got a phone call from the radiologist that always a bad sign and it showed multiple central filling defects were seen in the right lower low of the pulmonary arteries including the basal segment and the stug mental branches consistent with acute pulmonary emboli.

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[SPEAKER_01]: There was also a pulmonary embolism in the left lower-load segmental pulmonary artery extending to the sub-segmental branches.

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[SPEAKER_01]: Examination of the heart showed that he had no right-heart strain.

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[SPEAKER_01]: The lungs showed a ground glass of Opacity in the basilar part of the right-loader low-load, which the radiologist thought was consistent with a pulmonary infarct.

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[SPEAKER_01]: And so, and then I thought, well, maybe the pain was really from the infarct.

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[SPEAKER_00]: This is a lot to manage in the outpatient setting.

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[SPEAKER_00]: So what did you do for him?

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[SPEAKER_01]: I could have sent him home on an anti-coagulant, but he was in such severe pain at this point, you know, as two hours into the visit.

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[SPEAKER_01]: So I sent him to the emergency room where they were able to treat his pain.

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[SPEAKER_01]: They also got a Doppler there, which didn't show any thrombus and his lower extremities, but eventually, I sent him for a thrombophilia workup.

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[SPEAKER_01]: And he was heterozygous for the Factor 5 Lydin mutation, which puts him its slightly increased for pulmonary embolic disease.

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[SPEAKER_01]: But the hematologist said that he needed to be on anti-coagulation for a long period of time, because he viewed it as an idiopathic pulmonary embolism.

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[SPEAKER_01]: And although the Factor 5 Lydin may have been partially to blame, maybe there was some, as yet undiagnosed thrombophilic element that caused him to have this pulmonary embolic disease.

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[SPEAKER_01]: airplane trip car ride he had no co-morbidities to suggest that we'd pre-suppose them to a pulmonary embolic disease.

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[SPEAKER_01]: You know, I'll be honest, I had no idea what this patient had, and I just, it was my clinical judgment that an unexplained plural of fusion needs further evaluation.

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[SPEAKER_01]: I think that there were several points that were helpful after seeing this patient.

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[SPEAKER_01]: One is that plural fusions are very common in pulmonary embolic disease.

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[SPEAKER_01]: They tend to be small.

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[SPEAKER_01]: D-dhymers are important to make diagnosis of pulmonary embolism.

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[SPEAKER_01]: And I certainly didn't do it, but I certainly would think that it's an important adjunct particularly when there's a question about the likelihood of a pulmonary embolism.

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[SPEAKER_01]: And thirdly, that young patients who have pulmonary ambuline tend to have fewer symptoms of pulmonary embolic Disease, you know, when we're in the hospital, we see patients who present with catastrophic pulmonary ambuline.

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[SPEAKER_01]: They most always are shorter breath.

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[SPEAKER_01]: Frequently, they're hemodynamically compromised.

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[SPEAKER_01]: But here is a man who had multiple pulmonary ambuline, no dysphia.

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[SPEAKER_01]: and only Pluritic Chesapeake, and I think the pulmonary infarction was causing his pain.

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[SPEAKER_01]: And when you look at the literature on pulmonary infarctions, they frequently, in young patients, present as severe Pluritic Chesapeake in the absence of dysvia, and they're frequently thought to be muscular skeletal, as I thought about this patient initially.

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[SPEAKER_01]: And again, I think I want to make a statement about the physical exam here.

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[SPEAKER_01]: I think if I hadn't picked up that there was a possible plural of fusion, I may have just ordered a CT scan, or I may not have ordered anything, or just given him more and more analgesics with the assumption that this was muscular skeletal, because in reality, that's what I thought he had.

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[SPEAKER_01]: And it was only the physical exam that made me think that was less likely.

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[SPEAKER_01]: Yeah, it was certainly an edifying experience for me.

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[SPEAKER_00]: super interesting case.

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[SPEAKER_00]: Young, healthy guy goes to the gym, works out a little harder than usual, has some shoulder and back pain and then ends up on a doughach maybe for the rest of his life.

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[SPEAKER_00]: This is definitely the kind of case that stays with you.

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[SPEAKER_00]: I will admit I would not have associated chlorofusion with PE.

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[SPEAKER_00]: It's interesting that up to 40% of those cases can co-occur.

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[SPEAKER_00]: So I think that's a really good learning point as well.

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[SPEAKER_01]: In my review of young patients with pulmonary embolic disease, a significant percentage 60% of those patients lacked any cardiopulmonary abnormalities or DVTs.

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[SPEAKER_01]: This is at least twice the frequency of that found and older group.

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[SPEAKER_01]: Similarly, 70% of younger patients with P were not tachycardic, while over 80% of older patients were tachycardic.

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[SPEAKER_01]: Physical examinations in younger patients tended to be normal, much more commonly than older patients.

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[SPEAKER_01]: 20% of younger patients with PE, though we had polarity chest pain as their symptomatology for pulmonary embolic disease.

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[SPEAKER_01]: So illness scripts are helpful, but the clinical context in which they occur is helpful.

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[SPEAKER_01]: You know, I'm in an outpatient setting.

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[SPEAKER_01]: Clearly the patient wasn't hemodynamically compromised when he came in.

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[SPEAKER_01]: He wasn't short of breath because both of those things would have led him to come to the emergency room.

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[SPEAKER_01]: But he thought, as did I, that this was probably muscular skeletal, but it turned out to be a lot more serious.

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[SPEAKER_00]: Absolutely.

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[SPEAKER_00]: So, don't be fooled by the younger age and beyond that, maybe even think a little bit harder.

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[SPEAKER_00]: I'm actually thinking about how we think about and general symptoms in certain populations, like women or diabetic patients, how they just present completely differently.

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[SPEAKER_00]: I think it's interesting to think about the way that younger patients present in conditions like PE, where you need to keep your index of suspicion very high.

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[SPEAKER_01]: Yes, and you need to be able to do a good physical exam.

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[SPEAKER_00]: Absolutely.

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[SPEAKER_00]: Never lose the art of the physical exam.

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[SPEAKER_01]: Please, don't do that.

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[SPEAKER_00]: Well, this has been a really interesting case, Dr. Charab.

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[SPEAKER_00]: Thank you so much for sharing it with us.

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[SPEAKER_00]: It actually is a great compliment to a recent episode that we did earlier this year on pulmonary embolism.

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[SPEAKER_00]: So, very good timing.

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[SPEAKER_00]: It's been wonderful having you with us and having you share your expertise and we'd love to have you back again soon.

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[SPEAKER_01]: Thank you.

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[SPEAKER_01]: My pleasure.