Yes, You DO Have Internal Organ Involvement, But…

(Please note – this article was reviewed for accuracy by two physicians, one of whom is a top scleroderma expert.)

This article was prompted by a post in one of the scleroderma focused Facebook support groups that I am active in.  The poster indicated that she had read an article that said that internal organ involvement occurred in the first 7 years and was asking about this.  I see posts like this all the time where patients are wondering if or when they might get internal organ involvement with their particular variant of scleroderma.

First, some brief background.  The word “scleroderma” literally means hard skin.  Scleroderma is a name for a family of diseases where skin changes are a common symptom or potential symptom.  There are two main types of scleroderma: localized and systemic.  Localized variants of scleroderma include diseases such as morphea or linear scleroderma and are pretty much restricted to the skin with no internal organ involvement.  In contrast, systemic scleroderma includes diseases often referred to as “limited scleroderma” (used to be referred to as CREST syndrome) or “diffuse scleroderma”. In most cases, when someone uses the word “scleroderma”, they are referring to systemic scleroderma rather than the localized forms.

So what does it mean to have “limited scleroderma” or “diffuse scleroderma”?  There is a LOT of confusion around these diagnoses, especially with the term “limited scleroderma”.  The full names for these two diseases are actually “limited cutaneous systemic sclerosis” (abbreviated lcSSc in the research literature) and “diffuse cutaneous systemic sclerosis” (abbreviated dcSSc in the research literature).  Patients often think that word “limited” means that their disease is limited to the skin, which is definitely not the case (unlike localized scleroderma which IS limited to the skin).  What “limited” actually refers to is the fact that with the limited variants of scleroderma (most commonly associated with anticentromere antibodies but sometimes with Th/To antibodies), the pattern of skin changes is less extensive (i.e., “limited”) than in the diffuse variants of systemic scleroderma, where skin changes can occur anywhere on the body.  With limited variants of systemic scleroderma, skin changes are typically limited to the fingers and lower arms, toes and lower legs, and the face.

But the real key here is the word “systemic” as part of the terms “limited cutaneous systemic sclerosis” and “diffuse cutaneous systemic sclerosis”.  Systemic scleroderma is initially a disease of the microvascular system: it starts with damage to the smallest blood vessels.  The rest of the eventual symptoms, including skin changes, lung or heart problems, damage to the GI tract, kidney problems, etc., result from continued vascular damage and other processes including immune system activation and fibrosis (scarring).

What this means is that from the very beginning, if you develop one of the systemic variants of scleroderma, you DO have internal organ involvement.  That is what is meant by “systemic”.  Often this involvement is only microscopic (seen when tissue is examined under a microscope) but not symptomatic.  Systemic scleroderma is often, but not always, a steadily progressive disease.  The rate of progression varies widely based on the particular type of scleroderma and the individual patient. For example, with diffuse variants of scleroderma, skin thickening develops rapidly in the first few years but then slows down, sometimes with noticeable skin improvement.  It is not clear why this happens.  But internally, damage can nevertheless continue.

The key question is whether or not the internal organ damage reaches the point where it causes clinical problems.  To illustrate: patients with limited scleroderma often live relatively normal lifespans, but with increasing symptoms and potential disability over the years.  Pulmonary artery hypertension (PAH) is one of the most dangerous complications for patients with limited scleroderma.  It turns out that if you monitor lung functioning in patients with limited scleroderma over time, it is common to see a gradual decline in some key laboratory measures of breathing function.  Only 15% to 25% of patients with limited scleroderma are ever diagnosed with PAH.  The rest of the patients never reach diagnostic criteria for a diagnosis of PAH even though they may have impaired lung functioning.  Some may have clinical symptoms such as shortness of breath upon exertion but others may never have problems like this at all.  In these cases, lung functioning may be impaired without having any effect on the patient’s quality of life.

In summary, systemic scleroderma IS “systemic” in that it does involve damage to internal organs, but in many cases, the damage to an organ may never be serious enough to result in clinical symptoms.  This is one of the reasons why your doctors monitor you closely with diagnostic tests. The goal is to identify any “functional” internal problems early when it is easier to treat them.

If you have any questions, as always, feel free to contact me directly at eharris@sclerodermainfo.org.

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15 Responses to Yes, You DO Have Internal Organ Involvement, But…

  1. Thank you for all your hard work:) I have a question. My daughter was diagnosed at 9 with localized scleroderma. She has since developed a positive ANA. Her doctor said she is symptomatic. And wants her to continue having lung function testing done. She has reflux but had it when she was a baby but it got better. She has to have her eyes checked every 6 months and sees a neurologist for migraines. How do I know for she that she does not have systemic sclerosis? Is there a test to positively confirm diagnosis or is it diagnosed mainly by symptoms?

  2. Systemic scleroderma is diagnosed by a combination of antibody testing and symptoms. If she has a positive ANA, then the next step in diagnosis is detailed antibody testing. Here is a link to an article that explains ANA and antibody testing in some detail: http://sclerodermainfo.org/pdf/How_to_Do_Scleroderma_ANA_and_Antibody_Testing_Correctly-US.pdf

    You can skip over the ANA testing part since she has a positive ANA already. Basically, the next step is either sending out to RDL or ARUP reference labs for a full scleroderma antibody testing panel or starting with testing for centromere, Scl-70, and RNA Polymerase III antibodies as these are the three most common ones. The Scleroderma FAQ on this website has a section that lists all of the antibodies. It also has a section on diagnosis that explains how diagnosis is done using the new 2013 Classification Criteria.

    Hope this helps.

  3. I have rectal and vaginal prolapse from limited scleroderma. Had the vaginal done in January. need rectal done now. has anyone had this done and how did it turn out. the operation is called rectapexy with resection. help thank you.

  4. And yet, there really is no treatment, so why have the functionality tests done? This is not a rhetorical question, Ed–I’m really interested in your thoughts on the subject.

    • Stephanie, that is actually a very important question that is almost never asked or discussed in the research literature. There is actually data that suggests most of the treatments that are used systemically (immunosuppressants) have at best a modest effect at best and that also you may pay a major price later for using them up front. In fact, there is a fairly recent study that looked at tends in survival rates over the past 40 years for patients with scleroderma correctly and raised this exact issue. Yes, patients with scleroderma are on average surviving longer than they did 40 years ago, as doctors correctly point out. On the other hand, EVERYONE is surviving longer (on average). If you look at the data correctly using a measure called relative mortality rates, the authors of the study suggest that there really is no improvement in survival in scleroderma over the past 40 years. (One exception – ACE inhibitors for scleroderma renal crisis definitely has helped survival for patients that develop SRC.)

      However, the problem with interpreting this pessimistically is that averages don’t reflect individual patients. Some patients who use immunosuppressants actually do well, with improved qualify of life, slowing down of symptom development, etc. Others can’t deal with side effects or it doesn’t work. Unfortunately, there is no way to know in advance who will benefit for real and who will end up worse than they would have if they had not tried a heavy duty immunosuppressant such as cytoxan.

      I am not sure if this addresses your question completely, but it might at least be food for thought.

      One of the reasons I am working aggressively to find out if my new (since 1993 🙂 ) disease pathogenesis model is correct is that it has the potential (if validated) to fairly quickly lead to treatments that are actually effective in stopping disease progression but are not toxic like immunosuppressants.

  5. Early intervention in cases of internal organ involvement can make the difference between irreversible damage or the opportunity to save vital organ function with targeted treatment. Therefore, testing on a routine basis is key to monitoring potentially affected organs in order to intervene at the earliest opportunity. Symptoms might not appear until permanent loss of function occurs, while detecting and treating for a specific condition, (PAH, for example), before it becomes life-threatening can mean a better overall prognosis.

  6. What can you tell us about teeth and gum disease related to scleroderma crest & sjrogens and the use of dentures, types of flexible or other types of dentures., or other dental treatment? Also what are the options if you have no back chewing teeth and the rest of the teeth are breaking & chipping off.ive had about 11 teeth taken out biggest regret I have . There is NO Pleasure in eating.
    Ive searched online but haven’t found anything of help.
    Im desperate i can barely chew anything & am loosing weight because eating a mango has even caused teeth breakages. And not many dentists know sjrogens or scleroderma crest.
    How do we get the help we desperately need?

  7. Diane, unfortunately I have no expertise in this area. My suggestion is that if you are not a member of Inspire, the patient support organization run by the Scleroderma Foundation, join it and post this question there. You will get a lot of answers from people who have dealt with similar problems.

  8. I have a question regarding scleroderma. Can you have internal and not have external issues. I am asking because I am still not sure if I have MCTD or not. I was told in the mid 1990’s I have Lupus And polymyositis. But, I also, have sjorgrens. My scans are contradicting stating lung fibrosis and now something on my kidneys. Thank you in advance!

  9. You definitely can and that is actually common with limited variants of scleroderma plus overlap syndromes such as MCTD. The key is knowing which antibody type you have. You would, however, typically have Raynaud’s even if you have no visible skin changes. What is your antibody type?

  10. I know I had a positive Ana with a specked pattern, positive CCP, positive SSA,
    and my rheumo is running more tests on me now. Also, I have hasimoto’s and I know I have had some
    Kind of mosquito virus twice but, not sure which one, I never went to the doctor but, got very sick both times.
    I also, have medistial mass but, not sure what that is yet.

  11. Kim, if you read the Antibodies section of the Scleroderma FAQ you will see that there are eight possible antibodies to test for, starting with the three most common: Scl-70, RNA Polymerase III, and centromere. In your case you would also want to test for U1-RNP, which is associated with MCTD since that has been suggested as possible diagnosis for you. If those are negative then you would test for rarer ones including Th/To, PM-Scl, U3-RNP, and Ku.