“I have Lupus and RA and IBS and CREST and Fibromyalgia and…”

I see this type of comment on scleroderma patient support groups all the time. And it is quite possible that if you were to look at the patient’s chart, this is exactly what you would see in their list of diagnostic codes.  While this list may be accurate, sometimes it is not and it’s worth spending a little time explaining why this might be the case, especially for patients with systemic scleroderma.

Scleroderma, as many patients can attest to, can be very difficult to diagnose, often taking many years from first symptoms to a final, accurate diagnosis. While this can sometimes occur with diffuse scleroderma, which can start with many different symptoms, it is usually much more of a problem with the limited and overlap forms of scleroderma where symptoms develop more slowly and skin changes, if any, may not be present for years.

The basic problem is that scleroderma can have symptoms that are non-specific and can occur in other autoimmune diseases. For example, fatigue is a common symptom of MANY diseases, not just autoimmune diseases. Muscle aches and joint pains can arise in lupus and rheumatoid arthritis. Some GI symptoms look like irritable bowel symptoms. Raynaud’s can occur with lupus, autoimmune Hashimoto’s, Sjögren’s, Buerger’s disease, and so forth.

If a patient comes into a primary care provider with some of these symptoms, the provider will typically order a series of tests and in some cases send people to specialists. Depending on the test results (and there can be major problems with ANA and antibody testing as I have discussed in other posts), the patient may initially be diagnosed with lupus or RA or something that is not autoimmune but fits at least some of the symptoms. Over time, other symptoms develop that eventually results in the patient being sent do a specialist who is finally able to figure out that the patient has one of the forms of systemic scleroderma – a single diagnosis that can easily account for most or all of the symptoms that started this long diagnostic journey.

Unfortunately, in many clinical settings, what is not done is to eliminate the previous (incorrect) diagnoses from the patient’s record. As a result, the diagnostic list becomes cumulative with more and more diagnoses being added over time. This creates a great deal of confusion for the patient, of course, but it can also create confusion for other doctors or medical personnel looking at the diagnostic coding for the patient.

My recommendation is that if you have gone through a long series of preliminary diagnoses before getting a definitive diagnosis of one of the forms of systemic scleroderma, talk to your provider about this on your next visit. There may be good reasons for retaining multiple diagnoses in some cases, but if not, removing those extra, incorrect diagnostic codes from your chart will help to simplify things for you and future providers.


7 Responses to “I have Lupus and RA and IBS and CREST and Fibromyalgia and…”

  1. This is exactly what happened to me. I was diagnosed with Lupus just after I was diagnosed with Renauds, in 1998. Throughout the years, I marveled at how fortunate I was to not have a severe case of Lupus, with no organ damage, no sun sensitivity, etc. Then I started experiencing gastrointestinal issues and one (very intuitive) family practice doctor, did a preliminary blood test for CREST. The result was positive and that began my journey with the Mayo Clinic. I’m in good hands and thankful for the care I’m receiving, but still marvel at how little is known in the early stages and how I was so grossly misdiagnosed. I have learned one thing for certain, there are VERY FEW physicians who specialize or know much about CREST. There is one physician listed in my area with Scleroderma as a specialty, and he leads research and has written articles, but outside of Mayo clinic, I can’t find anyone. I’m grateful for such sites as this one and others, that allow us to find information and resources.

  2. You said you know of one Physician listed in your area with Scleroderma as a specialty. Being that you also mentioned the Mayo Clinic, I’m wondering if we may be somewhat in the same area. I live in Central Wisconsin. I need to find a specialist somewhere in my area that my Insurance will cover. I have just been diagnosed with SCL70 and am waiting to see a Rheumatologist who I have heard very good things about but Scleraderma is not on her specialty list. I’ve been suffering for many years and have just found out I was tested positive for SCL70 back in 2009 but the Rheumatologist I seen at the time failed to tell me this and told me I had Fibromyalgia instead. My new family Doctor just informed me that she has it in her notes but not on my charts. He ran another round of tests to rule out a false positive but it came back positive again. I have a lot of physical pain and some lameness in my left leg, heart palpitations, crawling feeling in my legs and parts of my arms,vision disturbances, dizziness, extreme fatigue and I even had a Kidney biopsy done in 2002 because I was passing a lot of blood in my urine for over 6 months with no explanation as to where the blood was coming from. I was told my biopsy came back with minimal change. I asked what that meant and the Urologist didn’t seem concerned. My new Doctor is amazed this wasn’t followed up on or addressed. So I imagine I’ll be having another kidney biopsy done. But I don’t seem to have skin issues yet. I have noticed whitish, yellowish small bumps running from the upper bridge of my nose down to below my eyes across the upper part of my cheek bone. I’ve looked at friends and family members to see if this is just something that’s kinda normal but I haven’t found anybody else with this. It’s also on my skin just below the eyebrow. Could this be a start of the Scleraderma? Also I do have the red spots under my tongue, but so far that’s is as far as skin goes. I can’t tolerate the cold and my hands and feet are always cold in the colder months but they haven’t turned white or blue yet.
    If you could give me the information on a Doctor that may be in my area I would really appreciate it. Thank you. Tammy.

    • Tammy, one important diagnostic piece is whether or not you have a positive ANA result done by the IFA testing method. Another question is to whether or not the Scl-70 result is a low positive value. If the ANA done by IFA is negative then then Scl-70 result may be a false positive because of testing methodology issues that I haven’t written a paper on yet. If this is the case, repeating the Scl-70 test will continue to give false positive results. So it is important that you have an ANA done by IFA to validate that you may have an autoimmune condition as a first diagnostic step.

    • Crawling sensation in your legs? Well, that was last fall. I was wondering if it is the veins? Like, maybe you had a collapsed vein and then it refilled and you could feel the blood zigzagging? Normal people can have collapsed veins. I wonder if there is a vein test? I know that if one sits on a toilet and their feet tingles…it is suppose to be a lack of calcium, right? I’m getting a collagen around the sides of the nose but many seniors have the same problem due to old age. Thanks for sharing

  3. Please forward me any new announcements on crest ….not been told much just that I have a mild form…I have Raynaud’s for years….spots on my face….and sometimes swallowing issues….many thanks for ur information… Really helped….yours…joy Moulton.

  4. Please help.
    I’ve had unexplained infertility and early menapause at age 35. My dr ran all kinds of test and an ANA panel. Not sure of my ANA score but the scl-70 was 0.5 done at labcorp
    Should I see a specialist?

    • An Scl-70 result at LabCorp is in the normal range. If your doctor has concerns of a potential autoimmune problem, the best first step is to have the ANA test done by the IFA method, as is recommended by the American College of Rheumatology. It is possible that your ANA was done differently in which case a false negative may occur. Check with your doctor to find out how the ANA was done (if negative) and ask it to be rerun by IFA as the next step in diagnosis.