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Lupus or Scleroderma, I am confused!

lupus or scleroderma difficult diagnosis connective tissue disease

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#1 TOB

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Posted 08 February 2009 - 08:51 PM

Hi,

I am new to this forum and glad that I have come across it!

I have been suffering from Raynaud's for approximately 10 years although I have only had it diagnosed this week. It was only through a friend that when discussing the effect of the cold on my hands, feet and nose, that my friend mentioned a relative of hers had Raynaud's. I immediately started researching on the net and concluded that's what I had. During my search I saw a link to GERD and this then linked to Scleroderma . I have had severe GERD for the past 6 years which started during my pregnancy.

The more and more I read on I discovered that symptoms that I have are extremely similar to scleroderma sine scleroderma as I have no skin disorder. Other than Raynauds and GERD my symptoms are dry coughing, shortness of breath on exertion, heart palpitations, carpal tunnel syndrome and fatigue. I also suffer with frequent bowel 'rumblings' every time I eat which often leads to having to run to the bathroom within half an hour.

I had some tests done last week and I received the results today. I was positive in ANA (speckled patter titre 640) and also in ENA SSA (RO60). I was negative in ENA Scl-70 which my doctor told me is prominent in scleroderma. She told me that my results were more common in lupus and is now doing further tests (ds DNA,cardiolipin etc.)

My issue is that my symptoms appear to be so close to scleroderma and not very close to Lupus. Don't get me wrong, I don't really want to have either, however, I am worried that the sclerodera is going to be overlooked. I also understand that the GERD could be completely separate issue and not related to scleroderma, however, I can't seen this symptom for Lupus.

I wanted to reach out and ask whether anyone has had similar test results to mine but has been diagnosed with scleroderma. I will have my second set of results tomorrow and have to see a rheumatologist.

Has anyone had a similar experience? All feedback would be welcomed.

Many thanks



#2 Jeannie McClelland

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Posted 09 February 2009 - 04:12 AM

Hi TOB,

Welcome to the Forum! I'm sorry you needed to find it, but I know how you felt when you did. I'd been searching for information all over the place and when I hit this site, whew, I felt like I could turn in my library card!

I have Systemic Sclerosis sine Scleroderma. (I've never tested positive for the Scl-70 and my ANA is nucleolar at 1:1280.) It was a whole cluster of things, confirmable by testing, that got me my diagnosis, that and having been lucky enough to have been referred to a great doctor who is familiar with this form of scleroderma.

I have to agree, your symptoms sound much like mine did at the time of diagnosis. The dry cough and shortness of breath make me wonder if they've offered chest HRCT or pulmonary function testing to you? I was also diagnosed with pulmonary fibrosis and pulmonary hypertension during the work-up for the sclero diagnosis.

We do have a page on Difficult Diagnosis as well as one on Lupus. If you check out the section on Diffuse Scleroderma, you'll find a subsection on the 'sine' form.

I think what I'd do is make myself a list with lupus on one side, sclero on the other, followed by signs and symptoms and then check them off. You might also find some exclusionary things that you could ask your doctor about. I once had a doctor tell me "oh, it couldn't be that - it is unbelievably rare" - well, rare doesn't mean non-existent. (Huh, since I won that lottery, maybe I ought to start buying sweepstakes tickets!!) :lol:

Best wishes and warm hugs to you. Let us know how you get on, won't you?
Jeannie McClelland
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#3 Sweet

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Posted 09 February 2009 - 06:04 AM

Hi TOB,

Welcome to the Sclero Forums! I'm really glad you've joined us, and as you can see from the terrific information you've gleaned from Jeannie, you've found the right place. On top of that you'll have people that truly understand what you are going through to support you and some become very close friends.

With that being said, I think Jeannie's links are terrific. Check them out, do a lot of reading, ask more questions, and be patient. Sometimes diagnosis can be a long and frustrating process. Be your own advocate, keep track of all symptoms, on paper, any questions etc., that way when you get to the doctor you are prepared. If you are not satisfied with answers from the doctor or don't' understand them, keep pushing until you are.

Again, I'm so glad you are here, I look forward to hearing more about your upcoming labs etc.
Warm and gentle hugs,

Pamela
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#4 Stef

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Posted 09 February 2009 - 09:31 AM

TOB,

Welcome! I have to say, I feel like I am living your experience! I found this forum here a short time ago, and must say it is incredible!

A few months ago I was diagnosed with Systemic Lupus, but have recently been to a Scleroderma Specialist to investigate whether or not I have an "autoimmune overlap" type of disease.

I did test positive for SCL 70 and have a positive ANA, but did not test positive for other Lupus-specific auto-antibodies. I have features of both Lupus and Scleroderma. The Scleroderma Specialist has retested ALL of my auto-antibodies at a "more consistent and dependable" (his words, not mine!) laboratory as there have been inconsistencies. I, too, would have Scleroderma sine Sclerosis as I lack the skin involvement.

I still have at least a week to wait for the latest auto-antibody results, and hope to have more answers. I, like many others here, have not felt well for years and have been a "diagnosis in progress"!

You'll find great info and support here!

Stef

#5 debonair susie

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Posted 09 February 2009 - 09:36 AM

TOB, I would like to welcome you here, where you will find many caring and supportive folks!

From the information you posted in your thread, you seem quite savvy!

I truly believe you are going about this the right way and being your own health advocate gives you a wonderful edge!

Because knowledge is power, you can feel confident that partnering with your dr, concerning your care...
will definitely forge a more comfortable dr/patient relationship!

The links Jeannie posted for you should help alot...(She's so good about that)!

Please DO keep us posted? In the meantime...don't be a stranger!
Special Hugs,

Susie Kraft
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#6 Amanda Thorpe

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Posted 09 February 2009 - 12:15 PM

Hello TOB

Welcome and sorry you're in the difficult stage of not having a firm diagnosis.

With scleroderma it's best diagnosed using a combo of info as bloodwork alone can't. I have diffuse SSc with a negative ANA and no idea about the SCL 70, I never asked and don't even know what it is!

I do think that with no skin involvement it's even harder for you and the medical profession to nail it down. Jeannie's suggestion of a list is a great one and remember that you know best what's going on in your body. Challange what doctors tell you if it doesn't seem right and ask why not if they dismiss the sclero diagnosis.

As you say you want neither sclero or lupus but which ever one you have, or overlap, you want to be diagnosed correctly so you can be treated correctly.

Oh yes I forgot to say, get a lung function and echo done asap if you have not already. A dry cough and shortness of breath can indicate heart/lung involvement (although not necessarily!) so it's best to get it checked to be on the safe side.

I'll be having both tests done shortly so get yours done and we can compare notes! :lol:

Keep us posted and take care.

Amanda
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#7 TOB

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Posted 09 February 2009 - 10:37 PM

Thanks you all so much for your posts. It really is great to know that there are people out there to act as 'sounding boards' for newly diagnosed or those awaiting diagnosis.

I definitely have Raynaud's but have not been tested as to whether it is primary or secondary. All I know is that today the weather in Sydney dropped to 21c degrees (it has been in the 30'sc for the last couple of days) and I had an attack of Raynaud's. I am sitting here now and my feet are freezing, time to get some socks on! Do you think I should request a nail fold test? Can this test determine whether it is Primary or Secondary Raynaud's?

I forgot to add yesterday that apparently my Rheumatoid blood test had come back higher than normal too. I don't have any joint pain but do feel very tight in my muscles, has any one else had the same result back?

Jeannie, can I ask what other tests you had to confirm the sine scleroderma? Our symptoms sound very similar. Do you also suffer with irritable bowels after eating and bloating? I haven't had any lung tests yet but had an ECG last week (I happened to have palpitation whilst at my general practitioner) and my ECG was regular but the beats per minute were raised.

I am awaiting the other tests I mentioned in my previous post and they aren't due for another few days. I have booked an appointment to see the Rheumatologist that my general practitioner recommended but can't get in until April. My general practitioner has given me another name so I am going to try her to see if I can get an appointment soon. Although I feel fine (other than the constant GERD) I am just really anxious.

Can any of you recommend any tests I should request or questions I should ask the rheumatologist? I am quite a quite person and often take the answers from doctors as the end of the line. If I get a rheumatologist that isn't familiar with scleroderma or states 'it's so rare' I want to be string and push back. I just want to be thoroughly tested for scleroderma and my symptoms are so close and the symptoms of Lupus and Sjogrens (is that how you spell it!) are so different.

Thanks again for all your great replies. I just feel very anxious and want to just get to the bottom of it all.

I will keep you all posted.

Many, many thanks to you all.

#8 janey

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Posted 10 February 2009 - 07:59 AM

TOB,
I'd like to join the others in welcoming you to the ISN forums. You have received some great advice and links! Please visit the links and review some of the abstracts. I'm going to give you a couple more links if you don't mind. You asked if the nailfold Capillaroscopy can tell the difference between primary and secondary Raynaud's. The answer is Yes based on an article you'll find at this link:

Nailfold Capillaroscopy

Other articles even describe how this test can be used to possible identify connective tissue disease such as scleroderma. You might print out the one's you find interesting and take them with you to the rheumatologist. I do that all of the time. My rheumatologist appreciates it, however - beware - some won't.

You also ask about other tests. Here is a link to our common medical tests for scleroderma page. Like Jeannie, I too have no skin involvement and my bloodtests for scleroderma were negative. My diagnosis of sclero and polymyositis was made primarily from symptoms, the capillaroscopy, and my CK bloodtest (test for polymyositis another connective tissue tissue).

I hope your rheumatologist has some knowledge of scleroderma. If he or she doesn't, then you might ask for a recommendation. Please let us know what you find out and keep us informed on how you are doing.

Big Hugs,
Janey Willis
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#9 jefa

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Posted 10 February 2009 - 10:57 PM

Hello, TOB. You have received a wealth of good advice already and there is nothing I can add at the moment, but I do want to extend a warm welcome to the ISN Sclero Forums. I look forward to getting to know you better.
Warm wishes,
Jefa

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#10 TOB

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Posted 17 February 2009 - 06:59 PM

Hi again everyone,

Well I have just received my second batch of blood tests back and have not idea what they mean! I am not sure if anyone on this site can give me an indication of what they are or relate to.

Test 1 - Lupus Anticoagulant

APPT 1:1 Mix 29.5 secs

Dilute Russell Viper Venom Negative

There is no evidence to indicate Lupus anticoagulant

Test 2 - Anti-DNA

3.4 IU/mL (<7.5)

Test 3 - Cardiolipin Antibodies

Cardiolipin IgG (EIA) Low Positive 8 GPL (<5)

Cardiolipin IgM (EIA) Low Positive 10 MPL (<5)


Test 4 - Serum Complement Fration

Complement C3 0.96 g/l (0.84-1.84)

Complement C4 0.18* g/l (0.20-0.59)

So the first test appears to be negative, the second test seems ok as it is less than 7 but the 3rd test is Low Positive. Does anyone know what this means? Is it a positive normally found in Scleroderma.

If anyone has any guidance on the final test, that would be great.

There you go, that's me all blood tested until I see the Rheumatologist in April for the first time. I am sooo anxious to know what's going on, what all the positive tests mean and whether my rheumatoligist is going to be clued up on scleroderma, lupus etc, etc!

I just wish we didn't have to wait so long for a diagnosis.

I will keep you posted.

Thanks again.

#11 Amanda Thorpe

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Posted 18 February 2009 - 02:37 AM

Hello TOB

Firstly sorry but I can't help with the results but that you don't have lupus is a bonus.

Are you able to see your doctor with the results for an opinion rather than having to wait until April? Like you I would not want to wait that long for a decision. I don't know where you're based, my hospital in London has a sclero advise line manned by the sclero nurses so we can get ad hoc advice, I don't know if anything like this is available to you.

I hope you are able to get some info/advice well before April. I know it's easy to say and harder to so but try not to worry as it won't change the outcome.

Take care.

Amanda
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#12 Jeannie McClelland

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Posted 20 February 2009 - 11:38 AM

Hi TOB,

Sorry it took me so long to get back to you, I've just gotten back from a trip.

OK, the tests I had were a bazillion blood tests, not only to check for common markers in autoimmune disease, but also to rule out the other non-autoimmune diseases that can cause the same symptoms; nailfold capillaroscopy; several x-rays; various swallow studies, which showed esophageal dysmotility; extended HRCT of the chest, which showed lung fibrosis of a particular pattern and esophageal wall thickening; a lot of pulmonary function tests, one of which ruled out things like asthma; allergy testing; 24 hour pH study (GERD and plenty of it); Laryngoscopy; a nuclear study to rule out blood clots in the lungs and demonstrate any pruning of the blood vessels; maximal exercise testing; normal and bubble echocardiograms; right heart catheterization; and I've forgotten what else. Posted Image

It was a full month of tests several days a week. I saw a pulmonologist first, who ordered all the tests, then a rheumatologist who specializes in scleroderma joined the team. A GI who has knowledge of sclero came next, as well as a pulmonary hypertension specialist.

Yes, I do have GI tract involvement. Bloating? Mmmm, well, I keep several different sizes of jeans around, if that answers your question. Posted Image I don't have irritable bowel syndrome, per se, but I do have a regular cycle of constipation, horrible gassiness, and then diarrhea. You might check out the page on Bowel Involvement

It seems like the rule of thumb as far as diagnosis of systemic sclerosis sine scleroderma goes, the more of the common symptoms you can demonstrate that you have without any other explanation for them will get you the grand prize - a diagnosis! Whoohoo!

Best wishes and warm hugs,
Jeannie McClelland
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#13 blonzee

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Posted 23 June 2012 - 03:14 PM

Hello! This will be quick until all my test results come back. The doctor thinks I have systemic scleroderma, but I'm still wondering if it could be lupus. The symptoms both sound like me. I enjoyed reading all the posts and will let you know what I find out when all my tests are done. Glad to be a part of this!! Take care all!

#14 Joelf

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Posted 23 June 2012 - 11:42 PM

Hi Blonzee,

Welcome to these forums!

I'm sorry to hear that there is a possiblity that you may have Scleroderma or Lupus. I hope that you will soon receive your blood test results but I would just point out that the blood tests are by no means conclusive and we have members who have had negative blood tests and yet most definately have Scleroderma and vice versa. A full diagnosis should be made by symptoms and clinical tests as well as blood tests.

I've included a link to our ISN Guide to Scleroderma Experts and Centers as we do recommend that if possible you consult a Scleroderma expert.

Do post again and let us know the results of your tests.

Kind regards,

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#15 Sweet

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Posted 24 June 2012 - 08:46 PM

Hi Blonzee! Welcome.

Please do keep us posted!
Warm and gentle hugs,

Pamela
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#16 Shelley Ensz

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Posted 02 July 2012 - 05:56 PM

Hi Blonzee,

Welcome to Sclero Forums! I'm sorry you have concerns about having scleroderma or lupus. Many of us have been in that boat in the past. Since they are both closely related, with many overlapping symptoms, it can sometimes take many years to sort out a proper diagnosis. I don't want to discourage you with the idea that it can take so long, but I also don't want you to get your hopes high that a diagnosis might be easy, or even eminent.

Regardless of how your next appointment(s) go, we are here for you. Most of us have had the hardest time of all while waiting for a diagnosis. Here are some warm, welcoming hugs for you. See our page on Difficult Diagnosis for some tips to help you during this time.

: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.

#17 Amanda Thorpe

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Posted 03 July 2012 - 08:26 AM

Hello Blonzee

Welcome to the forums! I am a rarity in that I was a quick diagnosis, misdiagnosed by dermatologists mid and late 2006 and again Feb 2007 but diagnosed with diffuse systemic scleroderma in August 2007. Mind you I had about 60-70% skin involvement that affected my ability to walk, sit,stand, move etc, I like to think misdiagnosis would have been impossible! I did also have a biopsy confirmation but negative ANA & SCL-70 as I still do!

Shelley is right it can be a long road to diagnosis for some but the important thing is you have your foot in the door so it's only a matter of time and irrespective of that we're all here!

Take care.
Amanda Thorpe
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#18 Lauren23

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Posted 24 September 2012 - 06:10 AM

Hi all,

I am very worried as I have had loads of blood tests done in the last 2 months as I went to my doctors because of pains and pins and needles in my legs. One blood test came back with low vitamin B12 and low folic acid which I am having injections for and tablets for the folic acid.

Another one came back with positive RO52 speckled pattern. I was tested for a lot of other ANA and ENA antibodies and all were negative. The only positive in the list was RO52. At the bottom of my test results it said negative and that it is not specific to Lupus and Sjogrens. I don't know what this means? I am so scared. My doctor has made me an appointment for me to see a rheumatologist at the hospital. I am so scared. I really do not want to have Lupus. I had negative RO60 and negative LA and loads of other negatives. RO52 was the only positive, but then it said negative at the bottom of the list. What else could it be?

I would really appreciate it if someone could please reply as I still have 2 weeks to wait to go to the hospital and I am going out of my mind having to wait and am getting loads of panic attacks and anxiety because of worrying.

Thanks,

Lauren

#19 Shelley Ensz

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Posted 24 September 2012 - 12:49 PM

Hi Lauren,

Welcome to Sclero Forums! I'm sorry you have concerns about possible connective tissue disease. :emoticons-i-care:

While you are waiting for your rheumatology appointment, it is important to try to keep some sort of perspective so that your worry points don't go off the chart, as you have so aptly identified it as your main concern at the moment.

The first thing that you will encounter in the field of rheumatology is that your blood tests mean absolutely nothing unless they correlate with your symptoms, and when it comes to symptoms, you typically need a whole bunch of very specific ones to add up to any particular autoimmune or arthritis disease. Odds are almost enormous that your doctor will repeat the tests, only to find they are all entirely negative or even that new, and possibly even more meaningless ones, pop up.

I would like to gently suggest that you try to pull out every trick in the book that you've ever learned about how to relax, both mentally and physically, before your appointment. That's because stress of this sort (the unknowing, the 'dying of curiousity') could be more damaging to you than any type of antibody, and because anxiety could also derail your appointment with the rheumatologist. You want to be able to calmly discuss your health and symptoms, and be able to comprehend what they are saying, as well.

Odds are really good that you have something that can be easily remedied, like a vitamin or mineral deficiency,as they have already found. Plus remember that about 20% of all lab tests are wrong, and who knows what (high) percentage are just transient things that will never even show up again.

However, Panic and Anxiety (P&A) can be lifelong friends, if we invite them to the party, so let's see what you can do to dis-invite them, and we can instead invite some old friends to visit you, like Hope, Faith, and Optimism (HF&O). HF&O aren't much fun to party with but the next day they aren't even half as likely to leave us with a hangover, either. So I will be sending a whole bunch of them your way, in hopes that they provide some comfort to you until you get some ANSWERS.

I'm sure you can handle any news, good or bad, it is usually the not knowing that drives most of us right up the wall.

:emoticons-group-hug:
Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

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

#20 Joelf

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Posted 25 September 2012 - 12:18 AM

Hi Lauren,

Welcome to these forums!

I'm sorry to hear that you're suffering such anxiety over your blood test results. As Shelley has said, taken on their own out of context, blood tests can throw up any manner of peculiarities, many of which can be irrelevant. I can understand how worrying it is, especially when you're awaiting an appointment and all manner of scary thoughts are going through your mind and I can remember vividly feeling very worried and anxious in a similar situation.

I'm hoping that when you see your rheumatologist, the results of your blood tests will not be as bad as you feared and as Shelley mentioned, they'll probably re test you again(I had numerous blood tests before they were able to diagnose me, in conjunction with the symptoms I was experiencing.)

Please do let us know how you get on with your rheumatologist's appointment.

:emoticons-group-hug:

Kind regards,

Jo Frowde
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