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Diagnosis confusing or lack thereof - pos ANA scl 70 with some symptoms

diagnosis scl 70

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#1 Zeen

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Posted 18 October 2013 - 07:15 PM

Hi,

I'm new to the forum. I'm finding comfort in reading your stories, but still have confusion with my lack of diagnosis.

 

I originally went in with complaints of swollen hands and feet, numbness in arms, hands, feet, and pain. I couldn't sleep at night and woke up 6-20 times to walk it off. For the last few weeks I started having significant muscle pain all over and what feels like friction rub in my tendons around my knees. It's very difficult to stand up, climb stairs, or move muscles after rest.

 

On blood work they found high ANA and scl 70 (elevated LFTs and other issues).

My doc says I'm not manifesting the classic symptoms. I have hand and foot swelling, but no skin thickening sclerodactyly. My fingers are very dry and itchy when they're swollen.  I noticed some nail fold capillary markings. My EKG, echo, EMG, and PFTs are all normal....so seems no systemic involvement. I'm not sure If I have Raynaud's. I have cold intolerance - fingers/toes are ALWAYS freezing cold and hurt if I don't warm them up - but they've rarely turned blue.

 

Doc will monitor me over the year. He's not being very clear if I have Ssc or not, and it's impossible to know how to proceed with life when I don't know what my prognosis is. I'd immediately feel better if I had no symptoms even after testing positive, but I definitely have symptoms! :(



#2 Margaret

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Posted 20 October 2013 - 10:39 AM

Hi Zeen ,

 

I am not the one to answer all your questions, but I do understand your frustration from the lack of a definitive diagnosis. 

 

My son started his journey 11/2006, at the age of 18.  His senior year in HS was horrible.  His symptoms were all internal, + ANA, + anti-RNA Polymerase, major fatigue BUT no Raynaud's, no skin involvement, and no capillary changes.  Initially, they were talking sine Scleroderma but he ended up with the diagnosis of UCTD. 

 

It sounds like just a generic "catch all" diagnosis, but it's not.  With so many of these autoimmune issues, one or many may overlap and getting a diagnosis may be very hard.  He was fortunate enough to respond well to Plaquenil and is doing failry well.  Over the last few years, though, he has slowly developed other issues....the Raynaud's  (mild) and Sjogren's.

 

Perhaps, others will chime in with more definitive answers but many of us hear/feel your frustration.

 

Take care, Everyone.

Margaret

Mom to Gareth,  DS/ASD



#3 Amanda Thorpe

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Posted 20 October 2013 - 03:42 PM

Hello Zeen

 

Welcome to the forums. Trying to get a scleroderma diagnosis can take years, up to 3 for men and 6 for women. Have a look at our resources about diagnosis of scleroderma and difficult diagnosis of scleroderma.

 

Blood work should not be used to diagnose scleroderma or rule it out because many people have blood work positive for scleroderma but never develop any symptoms and many people have scleroderma but negative blood work.

 

Raynaud's traditionally involves colour changes of red, white, blue but again not everyone with Raynaud's experiences this range of colours. I have very mild Raynaud's and never have any colour changes, in fact it was not until I had the thermography and nailfold capillaroscopy that I even knew I had it.

 

Thermography involved putting my hands into cold water then seeing how long they took to rewarm, the purpose of the test was to see if I had Raynaud's but according to our resources:No tests are required to make the diagnosis of Raynaud's. Laboratory, radiological, or Doppler tests are best used to assess the severity of the disease and as a guide for treatment.

 

Nailfold capillaroscopy involved having clear nail varnish painted over the cuticle and then to check for any changes or abnormalities to the capillaries, the cuticle was looked at under a microscope as you can't see the capillaries with the naked eye.            

 

We recommend seeing a scleroderma expert if you have any queries about diagnosis of scleroderma. Your doctor has said you are not displaying classic symptoms but this does no mean you do not have scleroderma and this is something an expert would be aware of. I have atypical scleroderma having displayed atypical symptoms and negative blood work, thankfully I am treated by a scleroderma expert.

 

Take care.


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#4 houckrn99

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Posted 13 March 2014 - 06:12 PM

Such an awful place to be.  I'm still trying to find my way to a clear diagnosis.  I've had about 15yrs of joint aching, creaking, & popping, 6 yrs of swollen hands or feet off & on, 9 yrs of fatigue attributed to "motherhood", 6 yrs of cold intolerance, 4yrs of "reactive airway disease due to allergens", and such radiating arm pain & sciatica that I actually left working as an ICU nurse (which I loved!) to work in an office since it was less taxing.  My first positive ANA and Scl-70 was about 6 or 7yrs ago and it has gone up & down ever since (usually up when my symptoms are worse). I finally went to see a rheumatologist last fall (my third rheumatology consult) at the urging of my co-worker who saw me struggling more with the joint problems.  This time it seems the other symptoms along with the very high Scl-70 antibody test have about overcome the fact that I don't have any appreciable skin hardening.  So now I have a "maybe" diagnosis of Scleroderma but at least I have a doctor that is taking my symptoms seriously enough to follow me and someone I can turn to if new problems arise prior to my next appt. 

 

It's so hard but my advice is to be evaluated by a scleroderma expert, seek support from faithful friends, take good care of yourself, exercise to the extent your body allows, and keep on living.  A diagnosis is often an evolving thing and I hope you find one soon!

 

Best wishes!

Heather



#5 Joelf

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Posted 13 March 2014 - 10:54 PM

Hi Heather,

 

Welcome to these forums!

 

I'm sorry to hear that you've been suffering for such a long time with various health problems and I can sympathise with the joint stiffness and pain. Unfortunately, Scleroderma is notoriously difficult to diagnose as it has so many idiosyncrasies and affects everyone differently.

 

Your advice about being evalued by a Scleroderma expert is spot on; we do recommend that our members consult a specialist, as many rheumatologists do not have the knowledge and expertise to deal with this complex disease.

 

Now that you've found our forums and joined our community, please do keep posting and let us know how you're faring.

 

Kind regards,


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#6 debonair susie

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Posted 14 March 2014 - 10:07 AM

Hi Zeen!

 

First of all, I want to welcome you here and am SO happy you have found our wonderful community of folks :emoticons-yes:

 

So many of us have worn those same boots, with regard to where you find yourself... lacking a definitive diagnosis (es); for that very reason alone, you are at the right place!

 

Here, you will find a wealth of medical information (Amanda was good enough to supply you with some GREAT links), which should help a bit.

 

As Margaret mentioned, she has caregiver knowledge of her son, Gareth's walk with Scleroderma and has shared his issues with Scleroderma; she also mentioned how difficult it can be to get a satisfying diagnosis, [especially at the onset] of symptoms.

 

After MANY diagnostic tests and much frustration, my diagnoses was given in 1995, four years after symptoms first presented. As Margaret alluded to, so often, there can be overlapping illnesses, with symptoms that may fit ONE disease, yet not ANOTHER! :emoticon-dont-know:

 

It seems you are doing a fine job of tracking your symptoms, but please...don't let whatever is going on, take control of your quality of life; take it from me... stress/worry are not beneficial to anyones' better health.

 

Those things you are able to do and enjoy, continue with them!

In the meantime, red through the links/information here and know that we are glad you have joined us here!


Special Hugs,

Susie Kraft
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#7 debonair susie

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Posted 14 March 2014 - 10:15 AM

Hi Heather and Welcome!

I'm glad you have gotten a diagnosis, but sure understand how you must feel; dealing with pain is something NONE of us do well and I hope you have found something to help with it.

You gave WONDERFUL suggestions...GREAT to live by! So glad you've posted and look forward to hearing from you more!
Special Hugs,

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#8 Amanda Thorpe

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Posted 18 March 2014 - 01:51 PM

Hello Heather

 

There is scleroderma without skin involvement, really! Scleroderma sine scleroderma, scleroderma sans scleroderma are marked by the absence of skin involvement as only the internal connective tissue is involved. You most certainly need a scleroderma specialist if you don't have any tight, hard skin to flash about, mind you even those of us with tight, hard skin to flash about have a hard slog to obtain a diagnosis.

 

Bear in mind I am a non-medical layperson and am in no way suggesting a diagnosis but if you do turn out to have sine (pronounced sin-ee) or sans please let us know as its quite rare. Of course whatever you turn out to definitely have please stick around!

 

Take care.


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#9 houckrn99

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Posted 18 March 2014 - 05:35 PM

Amanda-

 

For now, time will only tell. I have read of Scleroderma sine scleroderma and sometimes wondered if that may be my final diagnosis. I actually saw a scleroderma expert up at University of Illinois Chicago who was very supportive but not ready to give a diagnosis without skin involvement. She told me to watch for new symptoms and return to see her if anything came up or worsened. When I saw my current Rhuematologist I really wasn't expecting the Scl-70 to be positive again since it had been negative for awhile. I just wanted some tips on how to deal with my worsening "osteoarthritis"! LOL

 

Strangely enough it was both shocking and comforting to find the Scl-70 was very high this time. My current doctor is now watching me closely for progression and I am much more at ease with my "probable" diagnosis.  If I develop sclerodactyly, it will be confirmed. If I develop any new problems indicative of internal organ SSc, it will be confirmed.  Until then I'll just live for today.  Thank you all so much for your support!



#10 Amanda Thorpe

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Posted 22 March 2014 - 04:02 PM

Hello Heather

 

Waiting for internal involvement and/or worsening symptoms can mean that the damage is already done by the time diagnosis is achieved, it also means treatment has been delayed which can contribute to damage done. I wonder, how else can sine/sans scleroderma be detected? Blood test results are only part of the puzzle, taken in isolation they can be spurious If skin involvement is the hallmark scleroderma symptom and yet even with it diagnosis can take years, how else can sine/sans be detected if not by damage done? . You'd think they'd be a better diagnostic strategy by now!

 

As awful a diagnosis as scleroderma is, diagnostic limbo is even worse. Once it has a name you can treat it and can face it.

 

Take care and keep posting.

 

Take care.


Amanda Thorpe
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#11 houckrn99

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Posted 22 March 2014 - 06:08 PM

Thanks so much for the support!







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