Scleroderma: What is Scleroderma?

 More information related to this Podcast


Scleroderma:  What is Scleroderma?




Guest:  Dr. Edwin Smith – Rheumatology & Immunology

Host:  Dr. Linda Austin – Psychiatry


Dr. Linda Austin:  I’m Dr. Linda Austin.  I’m interviewing Dr. Edwin Smith, who is Professor of Medicine in Rheumatology here at the Medical University of South Carolina.  Dr. Smith, I know you have had, for many years, a strong interest in scleroderma, a very serious illness, not as uncommon as we would like.  Could you explain just what scleroderma is, what are some of the common symptoms?


Dr. Edwin Smith:  The term scleroderma itself means thickened skin, and it comes in different sort of fashions.  But what we’re most interested in is the sort of diffuse, what is also called systemic sclerosis type of scleroderma, which means that it’s a scarring condition that affects the skin, hence the name scleroderma, that also affects internal organs, such as the lungs, esophagus, kidneys, and the heart, as opposed to being a skin-only condition. 


The primary first symptom of this is most often something called Raynaud’s phenomenon, where people will get blue or white color changes on the tips of their fingers, toes or nose when they get exposed to the cold.  And that’s because, we think, the main thing that’s being affected in scleroderma early on is the blood vessels.  And that causes the scarring that happens later.


Dr. Linda Austin:  Does scleroderma always begin with Raynaud’s?


Dr. Edwin Smith:  It does not always begin with Raynaud’s, but that is the most common way that it starts.  Most people with Raynaud’s phenomenon do not have scleroderma or anything, really, wrong with them, but it is the most common symptom.  The other ways it can start are with swelling in the hands or feet.  Sometimes it can start with difficulty swallowing or with very bad heartburn because of involvement with the esophagus.


Dr. Linda Austin:  Who gets scleroderma?  What age groups, male, female, race are more prone to it?


Dr. Edwin Smith:  It is more common among women, but it certainly occurs in men as well.  It almost always happens to people who are from young adult to any age.  But the most common time of onset is in the 40s, and it is not associated particularly with any race, although we know that African-Americans are more severely affected.


Dr. Linda Austin:  Is it familial, does it run in families?


Dr. Edwin Smith:  Scleroderma is one of several things that are called autoimmune diseases, where the immune system is there to protect us from infection becomes active and attacks parts of our own body.  So, it’s related very closely to another illness, called lupus.  And the tendency to get those things is inherited.  Although it’s not inherited simply as something like sickle cell anemia or cystic fibrosis where there’s a single gene or a single part of DNA that’s causing it.  So, the risk of a family member developing scleroderma, if they have a family member with scleroderma, is higher than the normal population, but it is still very low.  The risk is not very high, but it’s increased compared to the general population.


Dr. Linda Austin:  Is it an illness that tends to be triggered by stress or infection, or anything, or does it just come out of the blue?


Dr. Edwin Smith:  Dr. Austin, I’m sorry, we do not know what triggers this.  We really do not.


Dr. Linda Austin:  It just happens.


Dr. Edwin Smith:  It happens.


Dr. Linda Austin:  How about identical twins, what’s the concordance rate if one gets it that the other will get it?


Dr. Edwin Smith:  For identical twins, it is increased compared to the general population, but the concordance rate is only on the rate of 10 to 15 percent for identical twins.


Dr. Linda Austin:  That makes it almost more mysterious, doesn’t it?


Dr. Edwin Smith:  Well, it’s one of these polygenic diseases.  That means several genes are involved.  And we’re trying to figure those things out now.  But, it does make it more difficult.  It does.


Dr. Linda Austin:  Now, in another podcast, we’ll talk about the treatment for scleroderma.  But, in the era before there was any kind of treatment for it, what was the natural course of this illness?


Dr. Edwin Smith:  It comes in two varieties, really.  And the most serious kind of illness was, if it progressed very rapidly, people would get very high blood pressure and kidney failure because of that.  And that was almost always fatal.  In the early 1980s, a new type of blood pressure medicine was introduced that has been very successful in treating that.  And we’re not going to talk about treatment right now, but that has changed that.  So, we’re very cautious about people with scleroderma monitoring blood pressure and getting in touch with their physician if there is an increase so that it can be treated.


The natural course of the milder type, that is more common among women, is the Raynaud’s phenomenon and the esophageal problem, and trouble with calcium deposits in their skin.  But, before any treatment was available for that, what they developed after years and years of having the disease was high blood pressure in their lungs, not in the normal way we think of blood pressure that’s taken in the arm.  But this is actually blood pressure in the arteries going to the lung.  And that can cause severe shortness of breath and even death.  And that was one thing that happened to those folks.  A lot of people can have milder forms of this, and it’s not rapidly progressive.  But, when the renal disease was rapidly progressive, the course could just be a matter of months. 


Dr. Linda Austin:  How common is this in the population?


Dr. Edwin Smith:  That’s an interesting number to come by.  But it is more common than diseases that we are more familiar with, like multiple sclerosis or muscular dystrophy; scleroderma is more common than that.  But, the prevalence is thought to be about 1 to 2 per 1000.  On the other hand, rheumatoid arthritis, another kind of immune disease, occurs in about 1 to 2 per 200 people, so this [scleroderma] is much less common than that.


Dr. Linda Austin:  Does it ever go hand-in-hand with other autoimmune disorders, such as rheumatoid arthritis?


Dr. Edwin Smith:  Occasionally people will have rheumatoid arthritis and scleroderma.  The most common associated autoimmune disease is hypothyroidism, low thyroid, because of the immune attack on the thyroid.  And if you look at the relatives of people who have these kinds of immune diseases, the most common illness that they will have is low thyroid function.


Dr. Linda Austin:  That’s interesting, because hypothyroidism is so common in women.  I think the data is something like 10 to 15 percent of all women have hypothyroidism at some point.


Dr. Edwin Smith:  Yeah, that’s the most common autoimmune disease.


Dr. Linda Austin:  So, it sounds as if there are variable presentations of this illness?


Dr. Edwin Smith:  That’s right.  It can come to us in different ways.  At times, the skin is involved.  There are people who have this illness who do not have the scleroderma; they don’t have the thickened skin.  They have lung and kidney problems without having the skin.  And there are other ways we can tell that.  But, not everybody gets skin involvement or lung involvement, or kidney involvement.  I don’t mean to say that everybody gets all of those things.  Almost everybody has the Raynaud’s phenomenon, the color changes in their fingers, and the esophagus problem, trouble with bad heartburn.  


Dr. Linda Austin:  Then, how do you make a definitive diagnosis?  When you have a patient come to see you with Raynaud’s and maybe some skin changes, how do you really pin that down?


Dr. Edwin Smith:  We use a blood test, called antinuclear antibodies, which is looking for a specific kind of antibody in the blood.  And we also do a specialized type of microscopy and look at the tiny blood vessels near the person’s cuticles for changes that appear in those blood vessels, because, again, we think that the blood vessels are the first things that are involved.


Dr. Linda Austin:  So, is that highly specific then?  Can you get close to 100 percent sure of the diagnosis?


Dr. Edwin Smith:  We can get close to 100 percent sure of the diagnosis.


Dr. Linda Austin:  Thank you so much, Dr. Smith.


Dr. Edwin Smith:  You’re welcome.


If you have any questions about the services or programs offered at the Medical University of South Carolina or if you would like to schedule an appointment with one of our physicians, please call MUSC Health Connection:  (843) 792-1414.


Close Window