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 back to Spotlight on Pulmonary Fibrosis in Connective Tissue Disease. In part A of this episode, we talked about the early signs and diagnosis of scleroderma. In part B, the participants Michaela Linková, a scleroderma patient and patient advocate, Dr. Pershina, an expert radiologis, and Dr. Czirják, an expert rheumatologist, will continue their discussion, with emphasis on post diagnosis follow up and monitoring of scleroderma patients.
Dr. Czirják, pulmonary manifestations can develop within underlying diseases, such as scleroderma, so could you please explain to us why pulmonary fibrosis can be associated with scleroderma?
If we bring together the most important elements of scleroderma, one of them is the vascular problem, the narrowing of different arteries. The second point, this is a so called systemic auto-immune disease, that means that we have immunological phenomena, and some inflammation, and the third and most visible, really important part is fibrosis, which is something like tissue scarring. You see this in the skin, and the similar phenomenon appears in the lungs, so these are the two organs: skin and lungs, which are mainly affected by abnormal fibrosis, some kind of scarring.
Right. And how do you then diagnose scleroderma with lung involvement in particular, for example, are there other specialists who are involved in the diagnosis?
You know, I am sometimes joking and I am saying that regarding my scleroderma patients I am doing basically nothing, I am just giving a lot of work to the other specialists, including cardiology, pulmonology, radiology, gastroenterology, nephrology, and so and so... So it is always a mandatory teamwork, and which team is dealing with a particular patient depends on the risk assessment and on the already diagnosed organ involvement. So regarding the lungs, of course we need the help of a radiologist, they make the high resolution computer tomography, and they are good experts and are giving us a detailed, very detailed opinion. Then, of course, we have to consult with pulmonologists, and if the patient needs some kind of continuous treatment, very often we are referring the patient to the so called ILD team, interstitial lung disease team, this is usually led by pulmonologists, but radiologists and rheumatologists are also there, and we come together and discuss together what you have to do with the patient, so it is always a teamwork, because it's very rare that a patient has only one organ involvement.
Usually, there are several involvements, and you have to bring everything together, in a patient with interstitial lung involvement, the patient may have inflammation in the joints, and it should be also treated, so you should bring these different manifestations together, and it is always a teamwork.
What happens to the body when a patient develops pulmonary fibrosis associated with scleroderma, and what are those early signs and symptoms of lung involvement there?
It's more or less the same, so if decreased physical capacity, breathlessness, fatigue are the signs of the already established interstitial lung involvement, the problem is with scleroderma, that heart involvement can cause very similar symptoms, basically identical symptoms, and in the heart the left ventricle, which is pumping the blood to our body, can be sick, and the right ventricle, which is pumping the blood to the lungs, and the pulmonary arteries can be also sick. So whenever you have the signs of breathlessness, decreased physical capacity, then you have to define by investigations which part of the body is sick. The final opinion can be interstitial lung disease, can be left ventricular heart disease, can be so called pulmonary arterial hypertension, where the arteries going to the lung are narrowed, and these three background causes should be differentiated. So you need an expert center, and the expert center should tell the patients which party is sick, and how to deal with that, and of course the teamwork will continue. Sometimes we work closely with cardiologists, sometimes with pulmonologists, sometimes with both of them.
Right, and radiologists, you mentioned there as well, and we do have our expert radiologist with us today, Dr. Pershina. Thank you for joining us today. Michaela, you have some questions for Dr. Pershina.
Yes, thank you. As we heard, the pulmonary fibrosis is complex disease, can be difficult to diagnose, and many different physicians are involved in the diagnostic process. Dr. Pershina, could you please tell us maybe more about your role as a radiologist in the diagnosis of pulmonary fibrosis?
Dr. P. (06:04):
Yes, so as we discussed, all the patients with scleroderma and suspicion of pulmonary involvement should undergo chest CT. The main role of radiologist, first of all, is to control proper data collection using correct scanner protocol, high resolution reconstruction protocol, because it's very, very important to detect very gentle changes in lung parenchyma. Then, to diagnose different interstitial lung disease patterns in connective tissue disease and in scleroderma and, uh, exclude complications, such as infection or other conditions. And finally, to reveal signs of pulmonary fibrosis and especially important, it's progression. It could significantly influence treatment and patient prognosis.
And what type of different radiological examinations are needed, what are you looking for as a radiologist?
Dr. P. (07:06):
To be honest, the only methods we can use for all interstitial lung disease and connective tissue disease is high resolution CT. Unfortunately, chest X-Ray doesn't have enough resolution to identify mild to moderate interstitial changes. The CT scans analysis radiologists look for specific signs of interstitial lung disease, such ground glass opacities, sur reticular abnormalities, consolidation, and in some cases, specific signs of fibrosis, such as honeycombing, or structure bone cryptosis. Also, the distribution of these changes in the lung fields is very important in making the right diagnosis.
Will there be any difficulties to accurately diagnose lung fibrosis in patients with scleroderma?
Dr. P. (07:59):
The main difficulties are overlapping of symptoms between fibrosis and other another processes and conditions, such as organization pneumonia or inflammation. In some cases it could be quite difficult, and if we decided that it's fibrosis, and we make the wrong diagnosis, it could influence on the patient treatment and prognosis assessment. To be correct, we should find additional radiologist sign, and serious scan to get the right diagnosis.
Is there anything special the patient should know before these procedures? How they should prepare for such examinations?
Dr. P. (08:40):
No, it's quite simple, non-invasive procedure that takes up to five, ten minutes, and actually we don't need special preparation. Patients just need to follow the instructions during the scanning, like breathe in and breathe out, and that's all. Some of the patients are afraid of radiation exposure, however it's not so high, and its about 5 millisieverts, and I repeat that we don't need to repeat the CT very often. Generally, in our rheumatology team we recommend to do, in a stable clinical situation, we recommend to do a CT check up every two years or one year, if we have some specific sign of progressive phenotype.
Thank you. And maybe, could you explain why many different physicians are involved in diagnostic procedure of pulmonary fibrosis?
Dr. P. (09:39):
Diagnosis of interstitial lung disease and connected tissue disease, and especially pulmonary fibrosis, is the result of co-working between radiologists, and specialists in pulmonology, and rheumatologists, as Dr. Czirják already said. Nowadays, we have some specific therapy, they can affect pulmonary fibrosis, and we have to be sure altogether that there is evidence of fibrosis to prescribe them. It's very important to combine data from CT and pulmonary function tests.
Michaela, we've heard a lot there about all these different doctors and specialists that have to work together to come up with their diagnosis, and also all these tests. Could you tell us maybe a little about your personal journey from when you experienced those first symptoms to the moment when you received your diagnosis and what specialists you met, and what, maybe, you wish you had known at that stage that would have made it easier for you to understand?
I hope my story won't be so long, but I'll try to summarize. As I mentioned at the begging, first time I ignored my symptoms, I didn't think that it's just something serious, I just thought I'm overworked, but in August 2014, I felt very swollen hands, pain and discoloration of my fingers, which I didn't know it's Raynaud's, because I didn't know it. I thought it was from my spine, because I work long hours sitting in front of computer, also I was playing actively beach volleyball, so I thought something happened in my spine, so I got some infusions on the emergency room, and it helped for a while, but it returned very quickly, so I arranged a private physiotherapist, but nothing improved. Finally I visited general practitioner, and she sent me for a few examinations, like carpal tunnel examination, the vascular examination, and everything was fine, so I was sent to rheumatology and unfortunately my symptoms were getting worse very quickly, as I later on find out I was diagnosed with diffuse scleroderma, I had a problem with movement, walking, extreme pain in the joints, tandems, and of course, as I mentioned, extreme fatigue. And I was lucky that this rheumatologist knows systemic scleroderma, and very soon she sent me to specialized facility with suspected systemic scleroderma.
So it’s really important to find the right specialist then, for somebody who can recognize these as symptoms of specific scleroderma. How old were you then?
I was 37 years, finding the diagnose tooks about five months, which is not too bad compared to other patients.
Sure, but what do you wish that you had known back then that you know now that might have helped you?
I think first I would wish that I will pay more attention to my body, because you know, a long time I ignore it, another thing is, if I know this illness. Because, you know, even I studied secondary medical school, I never heard about systemic scleroderma, which is a shame, because then I could see the first sign and I could somehow be alarmed that I should visit a specialist for such a disease.
Right, Dr. Czirják, many patients interpret their respiratory symptoms as unrelated, for instance, to their scleroderma diagnosis, and are often more worried about other scleroderma related symptoms that they are experiencing. What would be your advice to scleroderma patients who notice respiratory symptoms?
It's a very good question, because if we are talking about the everyday quality of life of the patient, the most important problem is Raynaud's phenomenon, the other problem is the gastrointestinal symptoms, bloating, diarrhea and so on... And the third one is the joint pain and decreased join motility. So these are the everyday problems of the patient, and my major problem is that I have to detect the very early signs of heart, lung, kidney involvement and I have to treat it as early as possible, and in the very early phase of the disease the patient will not have lung related symptoms, for example, so the overall approach is that if we start to follow up a patient with systemic sclerosis, we have to asses all the important items and we should know whether the patient has interstitial lung disease, has cardiac involvement, or has kidney involvement, so we have a baseline opinion, and we have to discuss that with the patient, then, during the next follow ups, the first question always is the physical ability of the patient, if the patient has a decreased physical ability, it can be caused either lung or heart involvements, and the other point, of course, the breathlessness, if the patient recognizes a new symptom or a patient has a decreased physical capacity, the patient should go back to the center and the center should make the appropriate investigations to clarify whether this is an interstitial lung disease related symptom, left ventricular heart disease related symptom, or pulmonary arterial hyper tension, and then if we have the diagnosis, we have to discuss with the patient, and we have to start the therapy. So, the regular checkup and follow up really important, and if you pose the general question, if the patient noticing respiratory symptoms, the patient should go back to the center, should ask for a consultation, and the center will give an early consultation date.
Let's say the patients don't have any respiratory symptoms. Does that mean that there is no lung involvement?
I think, that the early phases of the lung involvement, the patient is symptom-less, so this is the reason why we need to make spirometry, HRCT tests, and also we are regularly making the so called six minute walk test, the patient is walking for six minutes, and it also helps to diagnose the early cases. Early cases is symptom-less, so it is not like idiopathic lung fibrosis, where usually the patient, when first attends the doctor, already has severe symptoms, the patient may have symptoms, but the majority of the patient does not have lung related symptoms at the beginning, and our role is to recognize and to prevent the progression of the disease, to avoid the symptoms later on. We have several possibilities regarding the therapy nowadays, so it makes sense to, to clarify the situation as well as possible.
Sure, so regular monitoring would be, would be the take home message.
Absolutely mandatory. And the patient should know about that, because not all the doctors are aware of that, scleroderma is not a very well known disease, so my overall suggestion is that the patient either should visit a center, or at least, should occasionally appear in a center for advising, if the center is far away, this is the second option.
Michaela, as a patient you have another question for Dr. Czirják
I have a question to both doctors, to Dr. Pershina and Dr. Czirják, maybe what recommendation would you have to physicians regarding how to communicate in diagnosis of scleroderma to patients and also to their families? What do you think is important to communicate at the time of diagnosis?
May I start first? Of course, what we have to communicate with the patient is the current problems and symptoms, which we have diagnosed, and the second is the risk assessment, so we have to discuss with the patient and preferably also with the patients family members, what should be relatively carefully checked at, because there is a chance to develop a particular organ involvement, so I think that it helps to the patient, and also to the doctors, if this first discussion is appropriate and detailed. And it is mandatory to do that.
Right, Dr. Pershina, I have a question for you, so what would you say are the most common barriers that stand in the way of a timely diagnosis of scleroderma with lung involvement? For example, what are some of the typical challenges that patients encounter on their journey toward getting that diagnosis in a timely manner?
Dr. P. (18:54):
Yeah, from my point of view and examples of daily practice, one of the main problem is lack of screening CT in scleroderma patients. We know that CT features occurs earlier than functional impairment and clinical science of lung involvement, and we definitely need some initial point to asses the dynamics of changes, and there are several another worries, namely, still lack of equipment, I mean CT scanners in some regions of Russia and in other countries, and most important, the gap of knowledge in both rheumatologists and radiologists. It can be and should be improved, definitely.
Patient organizations also help patients and their families to navigate through the journey and the different stages of the disease. Michaela, could you perhaps give us some examples of how patient organizations can support suspected and diagnosed scleroderma patients and indeed their families as well?
Patients organizations play a big role from my point of view, they provide patients and their families with verified information, educate the patient and at the same time, advise them which specialized workplaces are suitable for diagnosis and treatment of systemic scleroderma, also they help patients with support or how to accept the illness, how to live with such a illness. Our patient group, for example, provides also psychological assistance for newly diagnosed patients, which is, I think, very important part, and it's not very often provided by the rheumatologists or by the other doctors, we also organize the online education webinars, with specialists as well as workshops with psychologists and coach, try to help the patients, make sure that they get the right treatment and they are not suffering too much.
Right, and Dr. Pershina and Dr. Czirják, is there anything that you would like to say, just to finish this up now, to patients who are listening, any sort of advice that you would like to leave them with? Maybe start with you, Dr. Pershina.
Dr. P. (21:19):
Probably not to patients, but to my colleagues, because assessment of the condition of a patient its of course the result of co-working of specialists, and from my point of view taking care of patients with such disease as scleroderma requires good networking between pulmonologists, rheumatologists and radiologists, and it's really important for the patient and his family that all caregivers have similar position in condition assessment, and similar vocabulary to improve compliance and to give support fighting the disease.
Dr. Czirják, what would you like to say as your final words?
Yes. Just one more point. I'd like to emphasize that what Michaela was saying is absolutely important. Patients organizations are really important, because only the patients organizations are able to provide relevant and reliable informations. So whenever I first met a patient and diagnosed scleroderma, I am always suggesting to the patient and the patient family, to enter to the patient organization, and to have a look at the suggestions, because if you consult the internet, you will get one hundred thousand hits, It is impossible to clarify the situation, so my most important point is that relevant information is necessary, and the truth is really important for the patients. Both the doctors and the centers can provide relevant information, but on the other hand, the patients organizations are also crucial, and we are closely working together.
It was extremely interesting talking to you. We are going to leave it there and thank you so much to Michaela Linkova, Dr. Pershina and Dr. Czirják for joining us today and for spending time with us talking about spotlight on pulmonary fibrosis in connective tissue disease and scleroderma.
Dr. P. (23:23):
I thank you for the invitation.
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