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Biomarker for Diffuse Scleroderma skin has been discovered!


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Positive anti-body, lacking SSc symptoms


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#1 Esme

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Posted 14 April 2015 - 12:14 AM

Hi!

 

I'm new here, and new to all things systemic sclerosis. I've been seeing doctors and had all sorts of tests done to find a reason for my symptoms, which include lower back pain and muscle tightness in my legs. I was referred to a rheumatologist by my GP, to see if something rheumatism-related could be going on. I don't really have any such symptoms though, so no joint stiffness or pain etc.

 

All my bloodwork has come back negative, except for the test for RNA polymerase III. My rheumatologist is actually a bit baffled why the lab did this specific test, as she most recently only ordered a test battery concerning muscles. There has been no mention of systemic sclerosis before and no indications towards it. If I try really hard, I might think of a few symptoms that I might have, for instance my nail capillaries in a couple of fingers have always been a bit weird, and in the past year I've developed a slightly rough spot in the skin on each foot. This spot is exactly in the place that touches the floor when I sit on the floor cross-legged (which I've been doing a lot lately with my toddler), so I just put it down to constant pressure on that spot. Maybe it's something more...? I also have very cold feet, but they never turn white so no Raynaud's I guess, and bad circulation runs in my family.

 

I'm a bit lost at the moment as my rheumatologist was so surprised by the test result that she didn't really give me any information. I have another appointment with her next week, and she will discuss with the lab before that so hopefully I'll get information then. I've been googling (of course...) and it seems RNA polymerase III is highly specific to the diffuse form of SSc so I'm quite worried. I guess I'm looking for reassurance that my positive result might be false or that it doesn't necessarily lead to diffuse SSc!

 

Any advice would be appreciated :)



#2 Joelf

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Posted 14 April 2015 - 03:50 AM

Hi Esme,

 

Welcome to these forums!

 

I'm sorry to hear that you've had a few health worries.

 

Although positive blood tests can be a marker for Scleroderma, equally they can mean nothing at all; many of our members have experienced positive blood tests and yet never gone on to develop the full blown disease and the reverse is also true.  You will find quite a few threads on this very subject and I can understand how worrying the blood tests can appear to be. However, a diagnosis of Scleroderma should really be made on the clinical symptoms and although blood test results can be taken into account, they're by no means the be all and end all.

 

Although the symptoms you describe could perhaps relate to Scleroderma, they could equally relate to any number of health problems. I realise (none better) how easy it is to Google your symptoms (or lack of them!) and then frighten yourself silly (been there - done that! ;)) I've included a link to our Medical pages, where you will find up to date and non alarmist information about Scleroderma and antibody tests. 

 

Obviously, as I'm not medically trained it's not possible for me to determine from your post whether or not you will develop Scleroderma; I'm afraid you will have to further discuss this with your rheumatologist at your next appointment.

 

Kind regards,


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#3 Shelley Ensz

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Posted 14 April 2015 - 12:39 PM

Hi Esme,

 

Welcome to Sclero Forums!  I'm sorry you have health concerns right now and send my best wishes to you. Sometimes antibodies are helpful and sometimes they are only temporary or a lab error. Therefore for autoimmune-type diseases, it is usually most helpful to focus just on significant, visible or measurable symptoms.  Maybe the antibodies will help explain the muscle issues you are having, and maybe they won't. Your rheumatologist will need to balance your entire medical history and current symptoms against the bloodwork.  Often when tests are repeated the abnormal results simply evaporate so try not to get your hopes up that they will provide a solid answer of some sort for you.

 

Please bear in mind that I'm not a doctor and I have no medical training at all, and verify everything I say with a reliable medical source. I know its very hard to discern from online research what constitutes scleroderma skin involvement, and what doesn't so most of us have only a hazy or murky idea of what to be looking for.  As it happens, rough spots or calluses on the feet are not a symptom of scleroderma skin involvement. Systemic scleroderma doesn't occur in just little patches, and it doesn't cause rough skin either. It is typically colorless and affects areas (rather than patches).  Such as, it might begin as the fingers or toes swelling up and looking like sausages; this phase can last weeks, months or years. Then the swelling might go down and the skin hardens, becoming entirely hard, tethered to the underlying tissues, and unpinchable.  It actually becomes smoother, usually hairless, the wrinkles lessen and may even disappear.

 

You are correct in that Raynaud's causes color changes, and having cold feet is not the same as having Raynaud's; poor circulation is far more common and nothing to worry about from a purely scleroderma perspective, although of course, you do want to keep warm, regardless.

 

So, if I were you, those two items I'd take off my radar, at least for this week. Although all of us do it from time to time, we really don't need to go looking for trouble on the net, as one thing about trouble is it will always find us when it is ready! The internet is both good and bad in that it can clue us in, even save our lives if used properly, and it can also freak us out unnecessarily.  Unfortunately it is almost totally impossible to draw the line in the right spot without our own specialist medical degree. And much of it is due to hazy things we read, such as "tight skin" and "cold feet", which I know isn't the least bit helpful in the real world when we have health issues and worrisome antibodies to boot!

 

But if I were you, I'd leave the muscle stuff and capillaries on the table. The capillaries are nice and visible and provable!  Your muscles were obviously the problem in the first place. And either there is a nefarious cause for them of some sort, in which case the antibody might be helpful, or there isn't.  It's possible to have scleroderma, and many other illnesses, without getting the whole nine yards of symptoms, especially at first. The flip side is its also possible to have even many things wrong that are not caused by a worsening or systemic illness.

 

You and your doctors have your work cut out, figuring where you fall on the spectrum of health to illness. Please let us know how things go at your appointment next week.

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
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The most important thing in the world to know about scleroderma is sclero.org.

#4 Esme

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Posted 14 April 2015 - 10:44 PM

Joelf and Shelley, thank you both for your helpful replies! It's so easy to lose perspective when googling and "diagnosing" yourself.

 

The muscle issue is really the main problem for me at the moment, as it's affecting my quality of life. My physiotherapist has identified quite a significant alignment issue in my hips, so I'm hoping that'll turn out to be the cause for the tension and tightness. It's just that your mind starts imagining all sorts of things when you don't know for sure! Especially now with a suspicious test result...  As for the capillaries, I will have to mention them to my doctor. It never even crossed my mind before that they might be a symptom of something.

 

Thanks again for the support. It really helps to be able share your concerns and get some feedback :) I'll let you know what I learn at my appointment next week.



#5 Joelf

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Posted 15 April 2015 - 04:14 AM

Hi Esme,

I can understand your concerns about your muscle tightness and as for hip problems, trust me, there's nothing you can tell me about aching hips, having just undergone a total hip replacement. Prior to the surgery I was in a lot of pain and could hardly walk at all, but having had the operation, I'm gradually getting back to hopefully full hip mobility.

I do hope that your appointment next week will be productive and if nothing else, will at least be able to set your mind at rest. The fear of the unknown is the worst fear of all.

Kind regards,

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#6 Amanda Thorpe

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Posted 15 April 2015 - 12:15 PM

Hello Esme

 

Welcome and there's been quite a few people of late posting because despite a lack of symptoms they have been diagnosed with scleroderma based solely on a blood test.

 

I can only reiterate what has already been said which is that blood tests are a bit of a red herring. As it happens I have systemic and localised scleroderma but my blood work is and always has been negative. In fact if you put my anonymous blood test results in front of any doctor they'd say that there was nothing wrong with me! Methinks different.

 

Until you get symptoms, that is if you ever get any, then I would not worry about it and if you want to see a list of systemic scleroderma symptoms, have a look at our video of systemic symptoms.

 

Take care.


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#7 Margaret

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Posted 15 April 2015 - 12:55 PM

Hi Esme....eight years ago, after having been diagnosed with esophageal dismotility, they ran blood work on my son, then 18 years old.  His blood work all came back positive for scleroderma, including the anti-RNA  Polymerase 1/111.  Like you, I googled until I frightened myself with his early death!!  Needless to say, his diagnosis is UCTD (Undifferentiated Connective Tissue Disease) and he has been on Plaquenil since then.  Like you, he has extreme aches/fatigue in his legs, but no skin issues. 

 

This is the only site you need for up to date, truthful information.  Everyone is so helpful and shared experiences enlighten many us.

 

Take care, Everyone.

Margaret

Mom to Gareth, 26 years old, DS/ASD



#8 Esme

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Posted 17 April 2015 - 12:00 AM

Thank you all for the support, I'm feeling a bit more calm about the blood test now :)

 

Margaret, thank you for sharing your son's story. That's interesting that he has fatigue in his legs. Is it considered to be a symptom of his UCTD? My thigh muscles sometimes feel like I've been doing some hard exercise, when I haven't. Interestingly though, actually doing some exercise helps...

 

Joelf, I'm sorry to hear you've had such a hard time with your hip!



#9 Margaret

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Posted 19 April 2015 - 06:25 AM

Hi Esme....unfortunately, I can't really answer that too well. Gareth has Down syndrome and autism, so his communications skills are very limited to rote questions and answers. He will say *legs hurt* and rub his thighs. He will ask me *pain pills* but not be able to tell me where he hurts. He stops and sits down if he's tired from walking, like in stores, malls, airports, etc. He already has 5 pins holding his right hip together, done at age 15, so that could be an issue, too. We do have a wheelchair for him and he will tell us if he wants to walk or ride. Being dx'd with connective tissue disease at age 18, didn't help matters!! Doctors have told me the pain is from the connective tissue disease but no one can tell me *why*. He also receives monthly IV Ig infusions, because of immune deficiencies, and I have been told they can affect the body, too, even though they aren't suppose to *hurt*.

The people at this site help me to understand what my son is going through and what he is feeling. I'd be lost without them.

Take care, Everyone.
Margaret

#10 Esme

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Posted 22 April 2015 - 02:48 AM

Margaret, I'm sorry to hear that your son has to deal with so many health issues! It must especially hard if you have no means of communicating effectively where the pain or the discomfort is.

 

I had my appointment with my doctor, and it seems we've come to a dead end of sorts when it comes to diagnosis. Regarding the antibody, she told me that as I have no suitable symptoms (she dismissed my capillaries), we'll just monitor the situation. She also reassured me that antibodies may well disappear, or never cause any problems. Like everyone here already told me :) But as we can't know, we'll monitor. For now I will just continue with physio and an excercise/stretching programme which seems to be helping a bit with the muscle problem. How nice it would be to have a diagnosis of something treatable and then just treat it away...!



#11 Joelf

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Posted 22 April 2015 - 09:52 AM

Hi Esme,

 

Thanks for updating us about your appointment.

 

It sounds as if your doctor is taking a sensible line with regard to your symptoms, although I know it is frustrating not to have reached a diagnosis. It's no comfort, I know, but unfortunately many of our members have been in the same position; Scleroderma and autoimmune problems are notoriously difficult beasts to deal with!

 

I do hope that your physio and excercise/stretching programme will improve the muscle tightness and lower back pain from which you've been suffering and that you will soon feel better.

 

Kind regards,


Jo Frowde
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