Connective Tissue Diseases (CTD) are disorders that exhibit autoimmune-meditated damage to various organs, one type of CTD is Scleroderma, also known as Systemic Sclerosis. Pulmonary Fibrosis is a lung manifestation that can develop in patients with Scleroderma. In this episode of “Spotlight on Pulmonary Fibrosis in Connective tissue Disease” we will meet the scleroderma patient Michaela Linkova from Czech Republic as she talks about her journey towards diagnosis. We also hear from Dr. Katarzyna Pershina, a radiologist from Russia, and Prof. Czirják László István, a rheumatologist from Hungary, who discuss how to recognise the early signs and symptoms; and explain what are the tests and examinations that used to diagnose and monitor scleroderma in patients.
Welcome to Spotlight on Pulmonary Fibrosis, a podcast provided by Boehringer Ingelheim. This podcast series aims to help people navigate their way through the complex pulmonary fibrosis journey, leading doctors and patient organization representatives from across Europe share their insights on the topics of diagnosis, treatment, and management of pulmonary fibrosis.
Welcome to this episode of Spotlight on Pulmonary Fibrosis in Connective Tissue Disease. In this episode we are going to be talking about recognizing the signs and early diagnosis of scleroderma. And here with us today are Michaela Linková, a scleroderma patient and patient advocate from the Czech Republic. Hello Michaela!
Hello, thank you for invitation
And thank you for joining us. Dr. Pershina, an expert radiologist from Russia.
Hello, it's nice to be here today.
Welcome, welcome and Dr. Czirják, an expert rheumatologist from Hungary is with us today as well.
Hello, first of all, thank you for the kind invitation.
We're going to start with you, Michaela, as a patient and patient representative. Could you please just tell us your story: why you chose to become a patient advocate and why the topic is so important to you?
Hi everybody, I was diagnosed with systemic scleroderma in January 2015, and I didn't know this illness at all, and I didn't have enough information, so the first thing I did was searching on google, which is the worst thing the new diagnosed person can do. Unfortunately, many physicians didn't know the illness. I was lucky, I got soon after first signed to a specialized center for systemic scleroderma, so it tooks me about five months. Even so, I had a complications in November 2015, and ended up in coma with Raynaud's failure and other serious complications. They only gave me thirty percent chance to survive, but, because I survived, when I got out of the worst, I decided to help patients with this disease, and I established the scleroderma patient group in 2018.
That's a moving story, so it was a very, a very personal thing to be able to help other people with the same disease as you have. Dr. Czirják, as a rheumatologist, could you please tell us more about your role as a rheumatologist, so how did it all start: why did you choose to specialize in rheumatology: and what is it like to work closely with patients with rheumatological conditions
I started my specialization in Debrecen in Eastern Hungary, in University of Debrecen, and as you all know, internal medicine consists of a lot of different specialties, and regarding rheumatology, the patients with connective tissue diseases are taken care by rheumatologist, and the most important point regarding these disorders is that several organs, internal organs, and musculus-skeletal organs are involved in the disease, so if you would like to become a specialist, you have to read a lot, and you have to evaluate the whole picture of the patient, because the clinical symptoms and organ involvements are very different and highly variable, so it's a difficult specialty, but very, very interesting and I like it very much.
Yes. And so did you, from the beginning, always want to be a rheumatologist or did it, did it sort of happen to you from as an opportunity in the hospital?
I started to work in the department of internal medicine in Debrecen, and at that time, this unit was very interested in patients with systemic lupus erythematosus, which is another connective tissue disease, more than eight hundred patients attended this unit, but at that time, when I was a young fellow, nobody was taking care of scleroderma patients, and I just asked my boss that I am really interested, because it is a complicated disease, and very difficult to have to the patients, and I got the permission and all the help, so I started to work on scleroderma, and collected a huge patient cohort consisting of 400 patients.
Wonderful. So, so the idea really came from you from something that you felt passionate about. That's great.
Yes, that's correct.
Dr. Pershina, could you please tell us more about your role as a radiologist, perhaps a bit about your background?
I'm a radiologist with specialization in cardiothoracic visualisation. For the last several years, I've been working with a big network of specialists, such as rheumatologists and pulmonologists, who are focused on taking care of patients with interstitial lung disease, including connective tissue disease.
From my first years of medical school, I was very interested in underlying processes and morphology in many disease, because it can be the key in the patient treatment, and radiology allows to look inside and answer some of these questions. Systemic diseases, and especially pulmonary involvement in them, are difficult to diagnose. The only way to help these patients is to collaborate with experts in the field of rheumatology, pulmonology and radiology. This collaboration inspires me to improve the knowledges of how to help these patients. Moreover, many of connective tissue diseases can be controlled by treatment, and we can observe the patients, how the treatment works, and the disease slow down, or reverse it. This is amazing. What about the patients with connective tissues disease? This is the special patients, and particularly, systemic sclerosis, many of patients in this group are young and really involved in treatment and decision making. Pretty often, they read a lot about the disease from different sources and take part in patient forums online, thus its very important to be important to be updated, have good communication skills. From other side, patients with connective tissue disease could have multi systemic involvement, and often they are afraid of this disease, especially during the first months of treatment.
And that is the patient group that you concentrate mostly on, the patients with rheumatological conditions. How do they differ so much from other patient groups that you encounter?
As I said, they're, most of them are young and very ill patients, so they're involved in the process of diagnostic and decision making, so they're very interested in it.
And in today's episode, we are speaking about scleroderma, also known as systemic sclerosis, and the journey towards diagnosis. Back to you now, Dr. Czirják, what is scleroderma? Maybe you can describe it to us, as lay people, what causes it, what are the common early signs, symptoms, that people would notice, for instance?
The name scleroderma is in ancient Greek, and it means heart skin. There is a skin hardening and sickening in a patient with scleroderma and the digits of the hands are always involved, and this skin hardening may appear in the upper part of the extremities as well, and in the central region of the chest and abdominal region, it can be quite restricted, and it can be quite extensive. The simple physical investigation may have to come up with the idea that the patient have scleroderma, so the early diagnosis is not that difficult. Regarding what are the causes of scleroderma, it is a very difficult question, because we don't really know. We know a lot, there is some genetic susceptibility, but it is not an inherited disease, there are a series of different genes which may contribute to this, susceptibility. We also identified some environmental factors, like exposure to silica, coal miners, exposure to organ solvents maybe, some infections.
That's interesting, so are there different types of scleroderma?
Yeah, regarding the provoking agents, they can provoke all different types of scleroderma, but basically, when we are talking about scleroderma, the systemic form of scleroderma, where the whole body may be involved, in this form, we have two sub-types, the first one is called limited cutaneous systemic sclerosis, that means that the skin hardening present mainly in the extremities, and the other type is diffuse cutaneous systemic sclerosis, which means that the central regions of the body are also showing skin hardening and sickening, and the difference is really important, because the outcome and prognosis of the diffuse type of systemic sclerosis is worse, and for the doctors and patients it's crucial that you need to have a risk assessment at the begging of the disease, you need to define whether you have a very early scleroderma, you have limited cutaneous systemic sclerosis or diffuse cutaneous systemic sclerosis, and following the risk assessment, you need to have a plan how to follow up your patient. You need to make investigations for the assessment of heart, lung, kidney, joints, gastrointestinal region, you shouldn't wait for the clinical symptoms, for example regarding the lung, because if you already have lung related symptoms, maybe the treatment is late.
Right, so the key is really to diagnose the sub type of scleroderma in order to be able to treat it as early as possible.
Yes, and I didn't mention one very important point. Regarding the very early symptoms in systemic sclerosis, you may have some skin hardening of the digits, or you even don't have a skin hardening, just some puffy fingers, plus, you have a symptom which is called Raynaud's phenomenon. Raynaud's phenomenon means that the patient is sensitive to the exposure to cold, and following an exposure to cold, the digital arteries are temporary closing, and that means that there is temporarily no blood supply for the digits, and it is very painful, and you can see color changes, white blue and red colors. These two symptoms appear very early, and the patient should be diagnosed in this early phase. And maybe you met the patients with diffuse cutaneous systemic sclerosis, but in the very early phase the skin involvement is not diffused yet. But you have other laboratory investigations and other tools to asses the patient very early, and to have a careful risk assessment, whether this patient has a high risk for developing interstitial lung disease, or heart disease, or severe joint involvement, and you have to think about early treatment, of course.
Right, so there are certain signs that are early, such as swollen extremities etc. which can make easier to get to an early diagnosis. We are going to talk to Michaela now, Michaela, can you tell us a little bit more about how your journey with scleroderma started, what were the first signs and symptoms that you experienced?
The first symptoms were extreme fatigue, feeling faint, nausea, losing weight. At the begging, I ignored these signs, because thought I am working too much, so maybe it's just because of this. But later on, I started to have repeatedly inflammation the urinary tract, swelling of the hands, and as Dr. Czirják mentioned, I had a Raynaud's on my fingers, fluffy hands, and also I started pain in my bones, muscles and tendons.
You have some questions for him, specifically about scleroderma symptoms. Would you like to ask Dr. Czirják a question?
Of course, I have a question. For many patients, their first medical contact after noticing scleroderma symptoms is their local, general practitioners. However, it can take some time until they are being referred to the right specialist and accurately diagnosed. What are the biggest hurdles for early diagnosis of these conditions, and what are your recommendations to the patients who is struggling to get the right help?
The reference of the patients to the centers is very late, it’s usually takes two or three years, even in West European countries. If a patient has Raynaud's phenomenon, the patient should be referred to a rheumatologist specialist, and the rheumatologist specialist will perform some basic investigations, which include immunological test and nailfold capillaroscopy, we see the nailfold capillaries, and they are abnormal in this disease. If the patient also has puffy fingers, As you had, this is another firm warning sign, so if these two are together, then the reference should be much quicker. A significant part of the patients with scleroderma doesn't have inflammatory symptoms, but if the patient also have some inflammatory symptoms, the probability that the patient already has early systemic sclerosis is very high, so I think that my overall suggestion is to refer the patients with Raynaud's phenomenon, arthralgia, puffy fingers, skin hardening, sickening and general symptoms, like fatigue, to connective tissue disease center, usually the university departments are covering this specialty, and the center should tell whether this is an early scleroderma, or we don't know, but we have to follow the patient, so we have to ask to come back a few months later, or it is not scleroderma at all.
Thank you very much. It's quite important that we hear this, because we have experienced that some patients were diagnosed after, you know, few years, 5-10 years, which is terrible. Why do you think it's so important that the patients are referred to the right specialist for assessment?
The basic problem, of course I am over - simplifying the question, but there are three different set of problems, the first one is the vascular problems, which includes Raynaud's phenomenon and digital ulcers, and Raynaud's phenomenon should be treated. The second problem is the skin, joint and other muscular-skeletal involvements, which is very awkward for the patient, and the third one, that the patients may have heart, lung, gastrointestinal and kidney involvement, and regarding especially the heart and lung involvements, at the begging, the patient usually doesn't feel any heart or lung related complaint, so there is a need for a specialist, who knows that my patient is a candidate for a later development of interstitial lung disease, for example. I have to make the basic investigations of the lung in the very earl phase, that means that I have to make spirometry, I have to ask the radiologist to make a high-resolution computer tomography, and give me an answer whether the lung is involved or not, and I also have to ask the cardiologist to make an echo cardiography and to evaluate the heart, and it is not symptom related.
Patients without cardiac or heart related symptoms should be assessed, investigated and baselined, and also these investigations should be repeated regularly, how often it depends on the risk assessment, there are patients where we need to do the rare assessment very often, and in another patient, in every two, three years. So don't wait for the symptoms, especially for the heart and lung related symptoms, because it is too late for the treatment, for the appropriate treatment . Recognize early and treat early.
Okay, so we're going to take it from there actually. So we've reached the point of a referral to a rheumatologist, for patients, of course its a great sense of relief to have that referral, however, the unfamiliar tests and procedures can leave the patients and their families with lots of questions. We're going to learn now more about these topics from our specialists that are here with us today. Michaela, you have some more questions for Dr. Czirják.
Yeah, I do. Maybe, Dr. Czirják can you please tell us what will happen during the first appointment with rheumatologists?
If a patient first comes, and let’s talk about the patient who doesn't have 10 years long symptoms, the patient comes with early signs of disease. First, we make a physical investigation, and we have to assess the skin involvement, that means that we are gently pinching the skin and we can assess whether there is a skin hardening or not, and we evaluate that and we give a skin score to the patient, the score depends on the extent of the skin involvement, and if the skin score is high, the patient has diffuse scleroderma, with a relatively unfavorable prognosis, if the skin score is low, then the patient probably has limited scleroderma, so we evaluate the skin for digital ulcers, so we are looking for digiting, pitting scars, then we also asses the joint movements, joint pain, we make a nailfold capillaroscopy, as I have mentioned, it's a microscopic investigation of the nailfold, and there is a diagnosis called scleroderma capillary pattern, which consists of capillary dropouts, and giant capillaries. We also make usually an x-ray from the hands, and laboratory investigation, we assess the presence of, inflammatory signs, erythrocyte sedimentation rate and we asses some special scleroderma specific anti-bodies, like anti-topoisomerase, anti-centromere antibodies, because they help to come up with the diagnosis, and they help to have an appropriate risk assessment. And taking all this together, we also ask the patient about internal organ symptoms, especially gastrointestinal related symptoms, bloating, abdominal pain, diarrhea and weight loss. We also ask patients with heart or lung related symptoms, which is breathlessness, decreased physical ability, we carefully measure the blood pressure, because if it is high, then kidney involvement can be present. I mentioned a lot different investigations, but in the everyday routine, it is not too much for the patient, and without these mandatory, basic investigations, we cannot go further. Point two: If we come up with the diagnosis of systemic sclerosis based on these investigations what I have mentioned, then it is mandatory to make a high resolution computer tomography of the lungs, it is mandatory to make a special spirometry, lung function test, and it is also mandatory to make an echo - cardiography by an experienced cardiologist, with both the left and the right side of the heart, and of course we also make an ECG. Based on these investigations, usually we are able to tell to the patient whether we have, internal organ involvement or not, and how should we come up with the treatment and what kind of follow up is necessary.
Maybe just one additional question, is it always easy to diagnose systemic scleroderma from the point of anti-bodies? Are they always visible for systemic scleroderma?
Very good question, and my overall answer is that in the overwhelming majority of the patients it is visible. The overall majority of patients has scleroderma specific antibodies, it is 95-96%, because we are in Central Europe. Interestingly enough, regarding the Hungarian patients, the proportion of patients who does not have scleroderma specific auto anti-bodies is relatively high. As I mentioned, we are following here in our Center more or less 400 patients, and we have 30 patients who are specific auto anti-body negative, so it may happen, but if you put together the whole picture clinically, the diagnosis is very easy. The most important requirement that the patient should appear as early as possible to the rheumatology center.
And Michaela, as a patient, so from your own experience, is there something that was missing there or something that you would like to add?
I think it is important that the scleroderma patient continues to go on regular check-ups and monitor the conditions, what exactly you are looking for during the regular check-ups?
Dr. C. (22:52):
It is very difficult to answer, because first, you have to have risk assessment. Let's tell you an example. If the patient has an early scleroderma, but the skin involvement is quite extensive, the chest is also involved, you will see skin hardening, and the patient has anti-topoisomerase auto anti-bodies and some laboratory signs of inflammation, this patient has an early diffuse cutaneous systemic sclerosis, and the probability to develop relatively early lung or heart or kidney involvement is high, so you have to make, as I mentioned, for example, the lung HRCT, lung functioning tested echo cardiography, and even if it is no signs of lung involvement, in this early phase you have to repeat the spirometry, the lung functioning test, every three months. If you take the other side, you have patients with limited cutaneous systemic sclerosis with longer disease duration and you don't see lung involvement based on this investigation, then you have to repeat the lung function test once a year, and you have to decide how often you repeat the imaging HRCT, it may not be necessary to repeat every year, I cannot give you a clear cut answer, because the disease is highly variable, there are different risk factors, and based on these particular risk factors, the rules are clear, how often you should repeat these investigations. What is the most important, and probably it is absolutely true for your particular case, that if you have a patient with early signs of diffuse scleroderma, the lung, kidney and the heart should be checked relatively frequently.
I just wanted to ask Michaela if that has been the case for her, have you been for regular checkups, has that been true for your case?
It was true for lung involvement definitely, so I was very early sent for the examination of my lung, but the kidney weren't mentioned, which I think it might be missed and it's important as well.
Let me tell you that there is one further scleroderma specific anti-body, Anti-RNA polymerase III anti-body. If it is present, the risk for developing kidney involvement is higher, much higher, compared to the other two groups, so based on the auto anti-bodies and the clinical findings, laboratory findings, you can decide whether your kidney should be carefully checked or not, anyway, if somebody develops kidney involvement, the very first sign of kidney involvement is usually an increased blood pressure. We suggest to all scleroderma patients that they should regularly check their blood pressure at home, independently (26:04) (?), because if there is an increase in blood pressure, the patient should be immediately referred to the center.
Yeah, it's quite important. I think in my case it was a bit different. For my anti- bodies it wasn't really visible or predicted that my kidney could be damaged, so yeah, definitely the measurement of blood pressure is important part.
Thank you for listening to part A of this episode on early signs and diagnosis of Scleroderma. Please also listen to part B, where the participants will continue their important conversation on scleroderma.
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