Understanding the New 2013 Formal Diagnostic Criteria for Systemic Scleroderma

(Note: This is extracted from the Differential Diagnosis section of the Scleroderma FAQ.)

In late 2013, the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) approved a new set of diagnostic criteria for systemic Scleroderma, replacing the older 1980 diagnostic criteria.  These new standards will improve clinical diagnosis of systemic Scleroderma, but it is very important to understand that the reason for developing these new diagnostic standards was “to develop a set of criteria that would enable identification of individuals with SSc for inclusion in clinical studies”, not for the purpose of normal diagnosis of patients in a clinical setting.  The authors of the special report that formally introduces the new criteria note that many symptoms that are used for clinical diagnosis are not included in these formal research criteria, including common symptoms such as tendon friction rubs, calcinosis, difficulty swallowing, as well as less common but more serious complications such as renal crisis.

Note: The table below is a slightly simplified version of the new classification criteria:

2013 ACR/EULAR Classification Criteria for Systemic Scleroderma

Item Sub-Item(s)

Weight

Skin thickening of the fingers of both hands that extends at least up to the joint at the base of the fingers (third joint on fingers,
second joint on thumb)(sufficient criterion)

9

Skin thickening of the fingers(only count the higher score) Puffy fingers

2

Thickening of the fingers up to the second finger joint

4

Fingertip lesions(only count the higher score) Digital tip ulcers

2

Fingertip pitting scars

3

Telangiectasia

2

Abnormal nailfold capillaries

2

Pulmonary arterial hypertension and/or interstitial lung disease(maximum score is 2) Pulmonary arterial hypertension

2

Interstitial lung disease

2

Raynaud’s phenomenon (can be self-reported)

3

Scleroderma-related autoantibodies(maximum score is 3) Anti-centromereAnti-Scl-70 (Anti–topoisomerase I)Anti–RNA polymerase III

3

Source: Van den Hoogen et al.  2013 Classification Criteria for Systemic Sclerosis.
Arthritis and Rheumatism Vol. 65, No. 11, November 2013, pp 2737-2747.

 

The total score is determined by adding the maximum weight (score) in each category. Patients with a total score of 9 or greater are classified as having definite systemic Scleroderma.  For example, a patient with definite skin thickening on both hands all the way to the base of the fingers receives a score of 9 just for that single symptom and is automatically classified as having definite systemic Scleroderma.  For the other category, you receive points based on the highest scoring symptom in that category.  To illustrate, a patient that has Raynaud’s (3), fingertip lesions with pitting scars (3), anti-centromere antibodies (3), and abnormal nailfold capillaries (2) would receive a total weighted score of 11 and would also be diagnosed with systemic Scleroderma.  Note that within a general category, e.g., “Skin thickening of the fingers”, you would “earn” 4 points for skin thickening up to the second finger joint OR 2 points if you just had puffy fingers, but not 6 points for both.

There is no question that these new diagnostic criteria will be helpful to clinicians as well as researchers, but there are a number of issues that will arise in clinical diagnosis because of the way these criteria were developed.  For example, you will note that there is nothing in these criteria that includes any GI involvement, which is very common with all forms of systemic Scleroderma.  There is also no mentioned of renal (kidney) problems, which are rare but a strong clinical complication that occurs with some forms of systemic Scleroderma.

These were excluded from these research criteria for different reasons.  In the case of GI symptoms such as GERD (reflux), from a research classification perspective they are not specific enough to just systemic Scleroderma to be useful in patient classification since they can occur with many other different diseases, e.g., Lupus.  On the other hand, while renal crisis associated with some of the other symptoms is very specific to systemic Scleroderma, it is actually so rare that it didn’t reach the level of significance in doing the classification research so there was no benefit to including it in the classification criteria.

It is also very noteworthy that the “Scleroderma-related autoantibodies” category adds anti-RNA polymerase III to the standard anti-centromere and anti-Scl-70 antibodies that have been associated with systemic Scleroderma for many years.  As mentioned above, the anti-RNA polymerase III antibody is associated with one of the diffuse variants of Scleroderma and has a different typical clinical symptom profile than diffuse patients with the anti-Scl70 antibody.  Also, the paper discussed additional antibodies indicating that they are likely to be added to the table in the future as more research is done to allow better understanding of the clinical significance of these less common antibodies.  However, it is worth noting that the new criteria only results in a diagnosis of systemic Scleroderma, but does not directly indicate which form of Scleroderma, even at the general level of limited or diffuse, in spite of directly including three specific antibodies in the table.

Scleroderma diagnosis will remain a clinical challenge in many cases, notwithstanding the new diagnostic criteria.  For example, clinicians still need to consider clinical symptoms that support a diagnosis of systemic Scleroderma that are not included in the new 2013 ACR criteria, e.g., GI symptoms such as GERD (reflux), difficulty swallowing, etc.  An additional challenge for physicians will be the switch to the new ICD-10 diagnostic coding system on October 1, 2015.  This will require more specific diagnosis than is currently required.

The reality is that in most cases, when patients start developing symptoms such as Raynaud’s, heartburn, puffy fingers, muscle pain and weakness, their first visit will be to their primary care physician, who is likely to be an internist, family medicine doctor, or a nurse practitioner.  In most cases, these physicians will have rarely if ever encountered a patient with Scleroderma and may not have read anything about the disease since they were in medical school 20 years earlier!  Because of the rarity of systemic Scleroderma, many primary care physicians may not initially think of autoimmune diseases.  However, once the patient or physician starts to consider a potential autoimmune disease as the cause of the patient’s symptoms, it is almost always the best course of action to bring a rheumatologist into the diagnostic loop since s/he will be trained in diagnosing and treating autoimmune diseases.  It is still important to realize that, especially in a small community, most rheumatologists may have never seen a patient with Scleroderma, but at least they are much more likely to have the training needed to correctly diagnosis Scleroderma and work with the patient to determine the best treatment options for their particular situation

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8 Responses to Understanding the New 2013 Formal Diagnostic Criteria for Systemic Scleroderma

  1. Dear Edward,

    First of all I really would like to thank you for this formidable job in providing all this vitally important information in an easily accessible way to lay people, scleroderma patients and their family and friends.

    I am a 34 year old female, residing in the UK. I am still undergoing the process of diagnosing for systemic sclerosis and seeing a sclederma specialist next week. However, I would still like to share some of my concerns and ask a question with regards to diagnose criteria.

    From the very beginning: I started to experience tiredness and fatigue since autumn 2015 but linked that to a very difficult extremely busy and stressful year. In Decemebr just before Christmas I started to wake up every night with numbness in my both hands and I also noticed a middle finger on my right hand swell and I could no longer fit a ring, but it didn’t hurt or ache just looked odd. It started to hurt though a couple of months later. I noticed that one morning I woke up with stiff hands and it was painful to make a fist because of pain in this middle finger.

    Numbness in my both hands was getting worse and worse and I was up several times a night because of severe burning sensations. I did a nerve conduction test and it showed a moderate damage to my median nerve and ulner nerve. So I was diagnosed with the carpal tunnel syndrome in my left hand worse than in the right. My hands also were and still are puffy. Wrists slightly swollen and painful. I started to wear a brace over night and during the day and that helped with pain and numbness a lot.

    MRI scan showed synovial fluid in my both wrists and index and middle fingers of the right hand. I did the blood tests and ANA was slightly elevated with 1:100 with Nucleolar pattern. I went to see a rheumatologist who suggested tenosynovitis due to overuse as I had worked long ungodly hours at the computer for a long period of time.

    For the carpal tunnel a decompression was suggested that I have recently hand on my left hand and currently recovering.

    However, I was referred to see another rhumatologist who carried out a thorough investigation and also reordered serology. This time ANA came back at 1:1600 (scary) and Nucleolar pattern! Among other symptoms I continue to have puffy hands and also I noticed that my ankles and feet easily show any clothes marks which do not go away for couple of hours at least which also suggests some swelling or at least water retention. Also I noticed that even sunglasses leave deep marks on my nose and they tend to stay for a few hours before disappearing completely. If I hold a mug in my hand it will leave a deep indentation in my finger which also suggest swelling or water retention. (Hope this makes sense :)) i would say this applies to my entire body, everything leaves marks as if I have no skin elasticity or water retention. My face looks slightly puffy as well, but not much. Also I recently noticed some dull pain in my calves in the morning as if I had run a marathon the previous day, but I know that I didn’t do much. This discomfort goes away after some stretching excercises. Also I wake up every morning with stiff fingers on my right hand and particularly struggle to bend the middle finger and make a fist, but again excercises help and I am ok during the day, stiffness returns after a period of inactivity. My left hand is a bit better after decompression but the wrist is still painful and fingers are slightly puffy.

    So, the conclusion was made that I am having inflammatory tenosynovitis and carpal tunnel syndrome on both hands. The rhumatologist also concluded: “Immunology points to early systemic sclerosis”.

    When I spoke to her on the phone she told me that this was pretty much definite diagnosis with a very high probability of me having diffuse systemic scleroderma. I was shocked as I do not (yet) have any other symptoms except this puffiness in my hands and wrists and a bit of discomfort in my calves. I asked her if any further tests would be done to confirm the diagnosis she answered that this wouldn’t be necessary as the picture was pretty much clear and that the lady she referred me to often runs clinical trials so that I may be offered that option and in that case I would undergo a thorough investigation of all my internal organs etc.

    I am a bit perplexed here as not only this diagnosis came to me as a shock as it would to most people of course, but her confidence that no further tests are required to confirm this really made me wonder whether there potentially could be any self interest here and my husband is also a bit suspicious. After reading your article that new criteria have been developed for clinical trials made me think about this option again. Especially the fact that she started to talk about the potential option of me being included in the clinical trial made think about it hard. I do not want to doubt the doctors competence as she is one of the best rhumatologists in the UK, but having read about other anti body tests that should follow up a positive ANA test and other symptoms again makes me wonder whther this is indeed the right diagnosis.

    Is it possible to have this high titre at Nucleolar pattern and not develop sclederma? Can it be something non specific like UCTD? My GP suggest that and says that there is not enough evidence yet to make such large conclusions, but he is not an expert of course.

    All my other blood tests came normal: rheumatoid factor – negative, ESR – 2, CRP below 3, anti CCP negative, CK normal, Calcium normal, ANCA negative, blood count normal, Renal/liver/thyroid function normal. Random glucose 5.5, Hepatitis B, C and HIV negative.

    I am also quite surprised to see a rise in ANA from 1:100 in January 2016 to 1:1600 in May. Is it even possible? What does it suggest? Could it be a lab error?

    Is it possible to have positive ANA this high but test negative for Scl-70? Shall I ask the doctor I am seeing next week to reoder ANA or/ and order other anti bodies tests?

    I am really nervous and anxious about all this and still hope that it won’t be confirmed. I wonder if there is still room for doubt about this being a correct and definite diagnosis. Your comments on this would be greatly appreciated.
    Many thanks for your time in advance.

    I look forward to hearing from you.

    Luba

  2. Luba,

    First, thank you for the kind comments.

    You don’t have enough information for a diagnosis at this point. First, ignore the pattern. It is a general indicator but it is not an accurate predictor as it is subject to different reading/interpretation based on training and experience. You need antibody testing to know what is going on.

    The change in ANA may be valid in that ANA starts low but gradually rises until it stabilizes. The absolute value of the ANA titer is NOT generally an indicator of disease severity or progression rates. A titer in the 1:1600 range is nothing unusual. I don’t think there is any reason to retest the ANA but you do need antibody testing. I assume you have been tested for centromere antibodies and these were also negative? The one that you probably have not been tested for but need to be is RNA Polymerase III as it is about as common as centromere and Scl-70. RNA Poly III is one of the diffuse variants of scleroderma. If that is negative, there are five other antibodies to test for but they are less common. These are discussed in my paper on ANA and antibody testing in the Additional Articles section of the website.

    Hope this helps.

    Ed

  3. Ed,

    Thank you ever so much for a prompt response, it is very helpful and is very much appreciated.

    I have not been tested for any specific anti bodies yet, just the ANA pattern. I will ask them to carry out further blood tests for all the specific anti bodies. If any of them come back positive does that confirm the diagnosis or it just points to the possibility of developing the condition? Could capilaroscopy be useful at this point?

    Thank you for your advice on the article, will definitely read it.

    Many thanks again and kind regards,

    Luba

  4. Start with testing for the three main antibodies. Even if positive, you need more than that for a diagnosis (as you have read in the discussion of the new 2013 Classification Criteria). Nailfold capillary exams are definitely useful as well.