Rheuma Case: 62-year-old Woman with Sore Legs and Dyspnea

by Stephen Holt, MD, MS

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    00:00 Okay, so let's move on to another case. This is a 62-year-old African American postal worker who is presenting to your office with sore legs and dyspnea. She reports that she was in her usual state of health until she went on a Caribbean cruise 3 months ago with her family. Since returning, she has noticed a gradual reduction in her exercise tolerance. She denies any cough.

    00:25 She also notes the appearance of tender bumps on both of her legs over the past few weeks.

    00:31 She reports some fatigue, an 8-pound weight loss, no night sweats. She has a remote tobacco history, less than 15-pack years. No alcohol, no history of incarceration and no TB exposures this time. Family history is non-contributory. She does report her older brother had COPD.

    00:50 And then on review of systems, her right eye has been unusually blurry of late. She actually has an appointment with ophtho next week. She also describes a large pimple over her left cheek. No GI symptoms and no joint pain. Okay. So highlighting a few things in bold here, again, African American race much more likely to see sarcoidosis. We talked about this bimodal distribution of patients developing sarcoid in the 20s and 30s and then again in the 50s and 60s. So that's certainly working for this. The cruise 3 months ago, I'm not sure where we're going with that but it certainly is going to help us to think about other infectious etiologies if she was out of the country. Reduction in her exercise tolerance, any pulmonary process can do that. Now, those bumps on both of her legs though makes me think about erythema nodosum and we'll talk more about that in a little bit. The constitutional symptoms can certainly be there within sarcoid and again because of her lack of incarceration or any TB exposures, TB while we're definitely not going to take it off our list after the last case we had, it's certainly going to be lower down. The right eye symptoms are also concerning. Sarcoidosis is frequently associated with anterior uveitis or scleritis. So that's something we're going to have to get a closer look at. And the large pimple over her left cheek, we'll have to think about that one a bit more too. Okay, so here's our physical exam. Vital signs, pretty unrevealing. Looking at the head and neck exam, she does have some right eye conjunctival injection. Now that conjunctival injection could certainly be a harbinger for anterior uveitis, which occurs in about 10% of patients with sarcoid. Our suspicion for this would increase if we saw what's called a ciliary flush which is a classical picture of anterior uveitis or a hypopyon which would be a layering of purulence at the anterior chamber on physical exam. Next up, moving down, cardiopulmonary exam is pretty unremarkable actually, clear to auscultation bilaterally. The abdomen, the neurologic exam are both benign. On musculoskeletal exam, slightly warm, tender, slightly erythematosus bilateral pretibial nodules shown here and the joints are unremarkable. So, those pretibial nodules make us think about erythema nodosum, which is a panniculitis or inflammation of the subcutaneous fat of unclear etiology, which is associated with a number of different conditions. It can be caused by infections, medications, malignancy, inflammatory bowel disease, and sarcoidosis is a relatively common cause. If we were to perform a biopsy of those lesions, it'd be pretty non-specific and wouldn't really point to any specific cause but with this current constellation of signs and symptoms it is absolutely adding weight to our possible sarcoidosis diagnosis.

    03:46 Now lastly on our physical exam, we have these violaceous indurated plaques on her left cheek.

    03:52 Now this is not our actual patient, as we said our patient is African American but this is emblematic of what we're hearing about here. This is a representative picture of something called lupus pernio. No, not systemic lupus erythematosus, a different type of lesion. These violaceous lesions can be seen on the nose, on the cheeks, around the lips, other places on the face, and unlike the malar rash of systemic lupus erythematosus lupus pernio is actually rather painful and importantly it's associated with sarcoidosis. So, at this point, which of the following is the most likely diagnosis? Well, we're definitely not going to cut tuberculosis off of our list just yet based on our last case. She has progressive dyspnea, some fatigue and weight loss, and importantly tuberculosis can also lead to erythema nodosum, non-Hodgkin's lymphoma in any elderly patient. With that constellation of these symptoms, you have to contemplate lymphoma or any type of cancer. ___ a check to make sure her health screening is up-to-date and certainly with the lymphadenopathy on chest x-ray we're even more concerned about that diagnosis as well. Sarcoidosis. It's a name of the chapter today. Also, her ethnicity, her age is going to support that she has those classic B symptoms, the extrapulmonary manifestations, the eye involvement, possible lupus pernio, erythema nodosum, there's a lot going for sarcoid right now. Keep in mind there's this sub-type of sarcoidosis called Lofgren syndrome which we'll talk about a little bit more later but is associated with some of those classic features on the preceding bullet. Next up, lupus. Now we know the lupus can affect a variety of organ systems and she clearly has a number of different systems involved. It is, however, much more commonly associated with younger women. She is an older woman, she is African American which is more common for lupus but still her age would really stir us away from that diagnosis.

    05:51 Likewise, erythema nodosum, not really something we would see with lupus either and that facial rash we think it's lupus pernio but certainly it could be the malar butterfly rash of lupus.

    06:03 We'll keep it on the list for now and get some diagnostic testing. And lastly, striae atrophicans vulgaris. Now that's a diagnosis that I'm absolutely confident is not going on in this patient. The reason I'm so confident is because I totally made up that diagnosis, I'm just trying to keep you guys on your toes. Okay, so now we've got some data for our patient. The CBC is normal, the basic metabolic panel is also pretty normal but this time we do have some degree of hypercalcemia.

    06:30 Remember we talked about those pulmonary granulomas elaborating 125-dihydroxyvitamin D and that can cause increased intestinal absorption of calcium and that hypercalcemia may actually be relevant in our case. Liver function test, they're within normal again. And the ACE level in this case is elevated. Now keep in mind the sensitivity is only about 60% for sarcoidosis but the specificity is even worse. So don't hang your hat on that ACE level either. And now looking at our chest x-ray, again we've got bilateral hilar lymphadenopathy in some reticular calcifications in the bilateral apices. No evidence of any effusions. This would be very typical for sarcoid. Importantly, the PPD is negative so we can finally take tuberculosis off of our list.

    07:16 The next step in this case considering how many things we have on our differential diagnoses including lymphoma would be to perform our bronchoscopy and to biopsy one of those paratracheal lymph nodes. If we would do that in this patient, we would find non-caseating granulomas. Just a word about caseating versus non-caseating granulomas. Caseating while it comes from the word for cheese, in this case, is talking about necrotic tissue and that's characteristically seen in tuberculosis would have caseating granulomas. Whereas the non-caseating granuloma where you would not have necrosis you would just have the giant cells, multi-nucleated giant cells that's going to be for sarcoidosis amongst the variety of other types of granulomatous illness.

    07:57 Okay, now we can finally rest assured that our patient has sarcoidosis. So now let's talk about some of the complications that our patient will have to watch for over the course of her disease.

    About the Lecture

    The lecture Rheuma Case: 62-year-old Woman with Sore Legs and Dyspnea by Stephen Holt, MD, MS is from the course Miscellaneous Joint-related Disorders.

    Included Quiz Questions

    1. Uveitis
    2. Closed-angle glaucoma
    3. Open-angle glaucoma
    4. Leukocoria
    5. Oculomotor nerve palsy
    1. Chest radiograph
    2. Transbronchial needle aspiration
    3. Bronchoalveolar lavage
    4. Surgical biopsy of the mediastinum and lung
    5. Skin biopsy
    1. Erythema nodosum
    2. Erythema multiforme
    3. Erythema migrans
    4. Dermatitis herpetiformis
    5. Erythema infectiosum
    1. Noncaseating granulomas
    2. Caseating granulomas
    3. Hamartomas
    4. Macrovesicular fatty change
    5. Mallory bodies

    Author of lecture Rheuma Case: 62-year-old Woman with Sore Legs and Dyspnea

     Stephen Holt, MD, MS

    Stephen Holt, MD, MS

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