Navigating Systemic Sclerosis: Signs, Symptoms, Updates on Treatment with Professor Dr. Daniel Furst

Welcome to Thriving with Arthritis, the podcast that empowers you to live a better life, despite all the challenges of arthritis and autoimmune diseases. Hosted by Dr. Diana Granita, a rheumatologist with over 20 years of experience. Each episode offers valuable information, latest research, and practical lifestyle options to fight arthritis. From expert interviews to patient stories, we cover it all. This episode dives into systemic sclerosis with guest Dr. Daniel Furst.

Key Questions Covered:
1. Why is it called systemic sclerosis and what is the difference between systemic sclerosis and scleroderma?
2. What are the early signs of scleroderma that patients should pay attention to?
3. Can systemic sclerosis occur without skin involvement?
4. What is the difference between limited and diffuse systemic sclerosis?
5. How do antibodies help in diagnosing systemic sclerosis?
6. Can patients with systemic sclerosis have a normal life?
7. What treatment options are available for systemic sclerosis?

Dr. Daniel Furst Contact info:
https://pacificarthritis.com/
https://myscleroderma.org/home

Transcript

Welcome to Thriving with Arthritis, the podcast that empowers you to live a better life, despite all the challenges of arthritis and autoimmune diseases. I am Dr. Diana Granita, your host, and a rheumatologist with over 20 years of clinical and research experience. With each episode, you will learn the most valuable information, the latest research, and many practical lifestyle options that will empower you to fight arthritis. I will bring you on experts in rheumatology to share their knowledge from navigating the healthcare system to connecting with others who understand your journey to real patient stories. Thriving with arthritis covers it all. Whether you're newly diagnosed or have been living with arthritis for many years, this podcast is here to support you every step of the way. Let's begin.

Today, we are diving into a new topic, systemic sclerosis. Thank you for joining us. A very complex autoimmune disease with profound impacts, especially on women. We will unfold the early signs, the symptoms. We will discuss how it is to live with systemic sclerosis. And of course, we will be discussing the latest treatment options available today and what is coming on the horizon.

But before we start, I am thrilled to introduce you my distinguished guest, Dr. Professor Daniel Furst, who is one of the most respected physicians and scientists in the world for his lifelong contribution to the field of rheumatology, but also his focus on systemic sclerosis. And without further ado, let's welcome Dr. Furst to my podcast, Thriving with Arthritis.

Good day, and I appreciate your having me on the program very much. Thank you. Let me tell you a little bit more about Dr. Furst. He is a distinguished professor of medicine at UCLA. He is a graduate of Johns Hopkins University, and he completed two fellowships. Rheumatology at UCLA and Clinical Pharmacology at UCSF. He is the first Carl Pearson Professor of Medicine at UCLA, and he's also a prolific author of more than 650 articles and 15 books on his name. Including extensive research on clinical pharmacology on our drugs, biologics or not. And he is also the driving force of writing guidelines for the American College of Rheumatology about our therapies today. 

Dr. Furst, without any hesitation, I know that you are the authority in the field. And today I invited you, and I'm very appreciative of your time, and I know patients will be too, to discuss about systemic sclerosis. And my first question is a question that confused many patients. Why do we call it systemic sclerosis and what is the difference between systemic sclerosis and scleroderma?

It's a very good question. Scleroderma means hard skin. And basically that's the umbrella term. Scleroderma includes systemic sclerosis, and I'll talk about that a little bit, but it also includes localized forms like something called morphia, where it's just the skin or linear scleroderma, where the skin is involved in lines in various parts of the body. And ultimately other diseases that look like scleroderma and have hard skin, but are not necessarily scleroderma. For example, there are some kinds of thyroid disease that look like scleroderma. 

Systemic sclerosis, on the other hand, is exactly that. It is skin that is systemic. So it's disease that's systemic plus hardened skin most of the time. It's due to the fact that there is something that starts it. For example, in Japan, there was a sleeping medicine in Spain. There was a cooking oil in South Africa. There were, was a particular mine that was associated with it, but whatever sets it off, it begins to cause the immune system, our body's defense system turn against itself. 

In addition, the blood vessels are involved. We see that is what's called Raynaud's phenomenon, where the skin, where the hands, change color to the cold and the vascular or blood vessel changes affect the immune system and vice versa. And both of them result in turning on cells called fibroblasts. Fibroblasts are those cells that kind of hold us together, but they do more than that. And one of the things they do is produce collagen. Collagen is the same stuff you see when you cut yourself and you have a scar, but that collagen forms inside the body. And so it can interfere with multiple organs. And the collagen turns on the immune system. So it sets up this round sort of circle of increasing disease. And the systemic sclerosis specifically affects the internal organs. The principal ones of the GI tract. The Raynaud's skin, of course, the lungs, and other organs too.

Because you started to mention all these organs and the involvement in systemic sclerosis, I know patients, they are confused, especially in the beginning of disease. What are the early signs of scleroderma that they should pay attention to?

That's another good question. 90 percent of people who have scleroderma get this. This thing called Raynaud's Phenomenon. This is a change in color of the hands or the feet can even affect the nose, the tongue, the ears to cold and stress. What happens is that the blood vessels constrict and then because there's no oxygen and no blood flow, the hands in this case turn white. And when they turn, when there's no blood flow for a while. Then because there's no oxygen they turn blue and then the body says wait We got to do something about this and they open up the blood vessels and it turns red So in a sense a very patriotic disease So it's white blue red if the blood flow is cut off long enough Then you can get ulcers of the skin, breakdown of the skin, which can be very painful. 

So that's the first thing. And then, much of the time, because there's not enough blood flow and the immune system has become active. The skin can become swollen, not just the joints, but the skin, and people feel swelling of the hands, and they can't make a good fist. So swelling is another very early sign. And it turns out that although about 50 percent of us have a little heartburn, when you have scleroderma, that heartburn gets a lot worse. That doesn't mean that if you have heartburn, you have scleroderma. But, if that heartburn really gets worse in the context of Raynaud's, etc., then you should think about what else it might be. The next most common thing is lung involvement. And what does that mean? You know that collagen that I talked to you about before? That gets in the lungs, and so it gets in the way of exchange of oxygen, and so we can get short of breath. And if the shortness of breath is significant, and again, in the context of Raynaud's and swelling, you should get it checked out. That does not mean you have scleroderma. By the way, 50 percent of people who have Raynaud's have nothing more than Raynaud's. So just because you have Raynaud's doesn't mean you have scleroderma. Anyway, getting back to the lungs, that's another organ that gets involved. And if your lung is involved with the scleroderma, it really does need treatment. So Raynaud's, swollen skin and GI. gastrointestinal, and lungs. Those are the most common. 

Thank you for making those stand out, because this is important for patients to understand. I often have patients that will come to me for Raynaud's thinking that they have scleroderma, or forms of changing in the skin color, especially of the hands, especially after exposure to cold weather that they will believe even that this is Raynaud's. And I love the fact that you explain the three phases of Raynaud's because what I actually do, I ask the patient to tell me exactly how they experience it. And I judge based on their description, how they describe it. If this is really Raynaud's. or just vasoconstriction or closing of the vessel because of the change in temperature or changing emotions. There are many forms of systemic sclerosis, but I would like to talk about one that many people do not know that exists. And This is this reminds me about a case that I had years ago when I was a fellow, a case that I actually published about a young lady that presented to the hospital with horrible episodes of Raynaud's, and she actually had ulcerations of her fingers. And on top of that, she had reflux. A lot of acid reflux, and she had shortness of breath. And she was, I remember she was in her early thirties. And the question was, what is she having? Is this an autoimmune disease or not? So that's how we discovered that might be something more. Can you tell us a little bit about systemic sclerosis that does not have skin involvement?

So that's called scleroderma sine. That's Latin for not. Sinae scleroderma, without hard skin. It can happen and it is a source of misdiagnosis and it's hard to define sometimes. So how can you define scleroderma sine scleroderma? It's specifically with the things that your patient had, Raynaud's and GI involvement and shortness of breath. Nowadays, we also have some blood tests that can help. We have some blood tests and one of them is called SCL 70. Or antitopoisomerase. You don't need to remember that. That occurs in about 40 percent of people who have scleroderma. So that means 60 percent don't have it. If you have it, it's useful in terms of making the diagnosis. If you don't have it, that's good. But it doesn't mean you don't have the scleroderma. If you have that in the setting of what we talked about before, then you have to think more about it being scleroderma, CNA, scleroderma. What about scleroderma, CNA, scleroderma? Is it better or worse prognosis? In fact, it's about the same prognosis. It's not worse. But because it's the internal organs, we have to be a little extra careful, and we can treat it. And we'll get to that, I'm sure. I have a lecture called Scleroderma is a treatable disease, because many people were told if you have scleroderma, you're done. Go home, get ready to die. That is simply not true anymore, and we'll get to that. 

I love the fact that you mentioned that. Thank you so much. Oh, it's very important. This is a very treatable disease now, and it's getting more treatable all the time. So with scleroderma sine scleroderma you perfectly describe the person who has it and we should not ignore those patients. We should keep that available. I don't know if you're gonna get a chance, but we might want to talk about what's called limited Systemic sclerosis. Do you want to ask something about that or?

Yes. Yes. I would love you to explain the difference between the limited and the systemic sclerosis. Let the patient know about what is limited systemic sclerosis.

Now, remember, we talked about scleroderma, that's the umbrella term, and then we talked about systemic sclerosis, that's a specific term, but we can get even more specific. There's a kind called limited systemic sclerosis and a kind called diffuse, and that means it relates to the amount of skin thickening that occurs. There used to be something called crest syndrome, calcinosis, Raynaud's, esophagus, it's sclerodactyly, that's hard fingers, and telangiectasia, that's red dots, but that occurs in both types and shouldn't be used anymore. Limited scleroderma involves more limited skin. So for example, it's distal or beyond the elbows and knees and including the face, but nowhere else. So what does that make? It does make a difference. Because patients who have limited scleroderma may have more trouble with their GI tract. They may have more ulcers because it's a vascular disease more than the diffuse, but they don't tend to have as much lung involvement. So lung involvement in limited scleroderma comes much later. We can spend more time trying to treat their GI tract and their skin and not worry about so much internal organ involvement. Diffuse disease, on the other hand, has more skin involvement. So that includes the upper arms, the trunk, thing like that. And so it's called diffuse because there's more skin. Those are the patients who early on tend to get more lung involvement, or more kidney involvement, things of that sort. So if you have diffuse disease, we need to jump in earlier to treat. Diffuse, you jump in. Limited, you can take your time.

That's a good assessment, and that gives patients a good perspective about what they can expect. Now, you mentioned about the role of antibodies, and I would like to dig a little bit deeper about how we make the diagnosis, because I had patients that will come to me with a positive SCL 70 antibody. Does that mean that they have scleroderma?

Yes. Your questions are right on target. First of all, 90 percent of patients who have scleroderma have a positive anti nuclear antibody, and there are multiple reasons for that. Basically, an ANA says your immune system is overactive. It depends how much ANA, et cetera, a lot of details there. But first of all, the A. N. A. Is very frequent. It does not mean you have scleroderma. It means you have an overactive immune system. An example is if any member of your family has an autoimmune disease, you are more likely to have a positive ANA, but that does not mean you'll get an autoimmune disease. And then, there are antibodies that occur that are typical of scleroderma. One of them is the SCL 70 or topoisomerase. Another is the anticentromere. Another is the RNA P3. Another is a THO TH1 ratio. Let's take those apart. SCL 70 is more associated with the diffuse disease about which we spoke before. If you have it, then you have to watch. That does not mean you're going to get it. For example, people who have certain kinds of hepatitis have that antibody. People who have something called pemphigus, another skin problem, have that antibody. But it means you need to pay attention. On the other hand, the anti centromere antibody, another blood test, is more typical of the limited scleroderma. Again, 30 to 50 percent of people have that. And it is more associated with limited Very few times do you have people who are both anti centromere and SCL 70. The RNA P3, it's yet another antibody, and it is associated with certain associations. Something called pulmonary hypertension, where the lungs get involved, and other things like kidney problems. And then, There's one I didn't mention called the RNP. That's an antibody that tends to occur when you have a little of this and a little of that. Scleroderma a little, RA a little, but not all of any of them. And that's actually a good antibody to have. If you're going to have that, you're unlikely to get into real serious trouble. And then there's one called THO TH1. That isn't used very much right now, but it's typical of a certain kind of scleroderma. If your doctor says, listen, we need to look, he or she should get an ANA, and maybe the SCL70, an anti centromere, and then, if those are positive, They need the help of an expert. And remember, this is a, quote, team sport. It's not one person. It's a bunch of people. And the patient is very important in it. What she needs is the key. So she should be part of the team. And it's going to need more than one kind of doctor. Rheumatologists really do well as the quarterbacks. But sometimes you need a lung doctor, or a GI doctor, or a Heart doctor or not, but it's a group of us working with the patient.

I appreciate the fact that you said that the patient is the center of this group because a lot of my patients, and I'm sure your patients will also ask you, is they would like to know what they can do, what lifestyle they can approach to get better or to feel better with systemic sclerosis. What do you teach your patients?

It is driven in part by ourselves, the patient. How we feel about it is very important. If we're depressed, if we're just, Oh God, there's nothing I can do. You'll get worse faster. If you say, Damn it, I'm not going to give in to this disease. I'm going to do something about it. I'll change my diet. I'll change the things I do. I'll stop smoking. I'll do a better lifestyle. You will do better as a patient for two reasons. One, one of the things that happens in people with chronic disease is they feel a loss of control. They say, no matter what I do, it doesn't make a difference. It's not true. What you do makes a huge difference. The power of your mind is really important in study after study. 30 percent the response to a medicine. Is the power of the mind, not the power of the drug. So the mind is super important, which means you, the patient need to keep control of what's going on, physical therapy, rest, exercise, the things, the things we all know, the things that are so hard to do. And I know nevertheless, The more of that you can do, the better off you'll be.

That is so powerful because we all know what we need to do, but it's hard to implement when you find out about this disease and many patients. I think I mentioned that to you before, before they come to us, they go on Google, they research it and they take Dr. Google as their partner in their journey. And that should not be the case. They should come to us, they should come to you, the expert, and they should figure out what is a life with systemic sclerosis. Do you think patients with systemic sclerosis can have a normal life?

Systemic sclerosis is a whole range of diseases, just like the other rheumatic diseases. RA is a range of diseases. Lupus is a range of diseases, but when it comes to scleroderma, some patients will have essentially a normal life. Some patients will not do so well and I gotta say this about Dr. Google. There's a Thing it says not everything is on Facebook is necessarily the truth signed William Shakespeare. Okay, so remember dr. Google is not William Shakespeare, okay Anyway back to this. I think That you, I must say I've lost my place. Where am I?

We were talking about if patients can have a normal life because when they find out about the diagnosis, like you said, their whole life is shattered. The reading that they do on internet, it's extremely disturbing and they don't see the light at the end of the tunnel. But as you said. The power of the mind. It's so critical and getting the right information from the right people who have experience who have diagnosed and treated patients and followed patients for years. Not only did they just heard about it. 

That's absolutely true. Knowledge is really important. In California and the West. Our organization is California Scleroderma Foundation. On the East Coast, it's what's called the National Scleroderma Foundation. Those are two very good sources of information. Most of us have support groups. I think you need to be careful about support groups. I agree. Some support groups are exactly that. Support groups, which help support, which help give you knowledge, et cetera, which try