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Newbie - undiagnosed but blood tests show possible?


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#1 fairylights

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Posted 27 June 2013 - 06:14 AM

Hi everyone,

 

Just stopped by to say hello and I hope this finds you all as well as can be.  :)

 

I am a young 57years old.  ;)   A brief history of my health: Brain Stem TIA 2003; Sjogrens' Syndrome diagnosis 2008; Confirmed diagnosis of AF (Atrial Fibrillation) 2009; Fibromyalgia diagnosed 2009; Asthma diagnosis 2010.

 

My Sjogren's was diagnosed due to history of symptoms but ANA was negative so I was told I was seronegative. I have never been completely convinced by this diagnosis and for the past couple of years, my main concerns have been my decline in my breathing, always breathless with no real explanation from GP. This isn't just a little, this affects my life considerably. I have also recently got over a long bout of bronchitis which was dreadful. Also suffered with 2 kidney infections, UTI and 2 sinus infections prior to the bronchitis.      

 

Now, I have always been a very fit lady with swimming and cycling 3 times a week, until 4 years ago when my health started deteriorating. I am now very unfit and struggling because my poor body is complaining so much. :tired:

 

I had another ANA blood test recently (always been negative) carried out by an Immunologist, and on her letter to my GP she wrote the results as follows:

 

ANA 1/160 nucleolar (ie weak XVE)

 

Can anyone help me with that result as when I googled it, Scleroderma shows as the most likely/possible explanation.

 

My query is, has anyone here been given a diagnosis based on this blood result or do ANA results change, ie could I be negative, then a weak positive for something? There is Lupus on my fathers side.

 

Many thanks.

 

 

 



#2 Shelley Ensz

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Posted 27 June 2013 - 08:17 AM

Hi Fairylights,

 

Welcome to Sclero Forums!

 

As it happens, scleroderma is not diagnosed based on blood tests; it is diagnosed based upon symptoms.

 

Yes, ANA results can change a lot, appearing and disappearing and changing titres and types. Some of the discrepancies may be due to using different labs and assays.  There are different methods used in tests, and some methods show a lot more false-positives than others. Another complication is that a lot of healthy people carry antibodies (all sorts of antibodies) so weakly positive ones are generally disregarded by doctors. Having a family member with lupus complicates things, because relatives can carry antibodies, and even have one or two symptoms of connective tissue disease, without ever developing full blown disease.

 

So, positive ANA turns out to be only a clue, and anyone who reads mysteries can tell you that many clues turn out to be very misleading. And some clues mean more than others. For example, it is more common for healthy people to have low positive ANAs, so high positive ANAs are considered to be more meaningful, but even then, only when combined with a person's symptoms and medical history.

 

I know you're probably hoping for us to jump up and down and say, eureka!, there's your diagnosis, signed, sealed and delivered, mystery solved!  That's how most of us felt with our first blood test that we thought would wrap everything up neatly and finally deliver us an accurate diagnosis of some sort. But unfortunately it is typically not that easy or straightforward. See our section on Difficult Diagnosis, which includes a video introduction by Amanda Thorpe, for some more info and comfort.

 

However, this might earn you the chance to have more screening tests done. For example, to make sure that your shortness of breath is not caused by pulmonary fibrosis or pulmonary hypertension or heart disease, which I'm hoping was all done before you were diagnosed with asthma.  My guess is you'd want to discuss your ANA results with your rheumatologist, and take it from there.

 

Please keep us in the loop as to what is happening, or not happening, as the case may be.

 

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Warm Hugs,

Shelley Ensz
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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.

#3 Joelf

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Posted 27 June 2013 - 12:45 PM

Hi Fairylights,

 

Welcome to these forums!

 

I'm sorry to hear that you've been having so many health problems. Unfortunately, as Shelley has advised, Scleroderma is notoriously difficult to diagnose, even after having blood tests, as it is quite possible to have positive blood tests and yet never go on to develop the full blown disease and vice versa, as many of our members can testify.  It does lead to an awful lot of anxiety and frustration as the diagnosis can take such a long time and sometimes never really reach an absolute conclusion. I've included a link to our medical page on Autoantibodies to give you some more information.

 

I would also advise that perhaps you should go back to your general practitioner or rheumatologist in order to arrange further tests and then once they have all the information they need it might be easier for a diagnosis to be made.

 

Do please keep posting and let us know how you get on.

 

Kind regards,


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#4 judyt

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Posted 27 June 2013 - 09:17 PM

Hi Fairylights,

 

Just one comment from me, in addition to heart disease or some other lung problem, breathlessness can be caused by low iron stores.  Presumably you have had a complete blood test but did it include Ferritin?  You never know, it could be as simple as that.

 

Judyt



#5 Amanda Thorpe

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Posted 28 June 2013 - 03:22 PM

Hello Fairylights

 

Welcome to the forums! As I have full blown scleroderma and negative blood work I can attest to the importance of history and clinical symptoms when it comes to getting a diagnosis and that they are more important that blood work.

 

Judy makes a good point about low iron, I was breathless when I had an iron deficiency, really breathless so it's worth having a blood test to check your haemoglobin levels.

 

As for a scleroderma diagnosis, it's back to the drawing board I'm afraid. That said, if you wanted you could try and get a referral to the Royal Free London the centre of excellence for scleroderma, bear in mind though that none of your symptoms listed are specifically scleroderma symptoms. Maybe that in itself is key?

 

Take care and keep posting your questions.


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#6 fairylights

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Posted 30 June 2013 - 02:29 AM

Thanks everyone for your experiences and suggestions. Sadly my breathlessness isn't  as simple as low iron, I've had more blood taken in the last few years, than most people have in their lifetime I think (healthy people, I mean). Definitely not low on iron or anything along those lines. general practitioner says heart condition is most likely the cause, but am told conflicting things by so many people, it gets kind of frustrating. From what I've read up on scleroderma, the lungs 'are' affected so again, more confusion. :unsure:

 

I've been up to the Louis Coote Lupus Clinic at St Thomas's a few years ago, but they didn't take my history of symptoms very seriously and again because at the time my ANA bloods were negative, I got discharged after 2 visits.

 

Appreciate any autoimmune diagnosis can take a long time to be confirmed, but in the mean time, because my blood tests don't confirm by 100% that I have this, or this, I am just dismissed by these consultants after a first visit. I've seen rheumatologists, Endo's, Immuno's, all to be dismissed due to bloods being borderline. Ah well, I'm having to move house and sell up for the second time in under 2 years, all because I cannot work. Will be moving out of the area to Devon so hopefully will get to see a consultant who actually listens!

 

I am again suffering with another kidney/urine infection, the fourth this year and I'm feeling absolutely dreadful. I've only been up an hour and want to sleep already.

 

Take care.



#7 Amanda Thorpe

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Posted 30 June 2013 - 07:18 AM

Hello Fairylights

 

Scleroderma can affect the heart as in my case, see my video about it, in fact heart irregularities can be one of the first symptoms of systemic scleroderma.

 

What I don't understand is your comment that your symptoms are not being treated because your blood work is negative? A doctor should treat a symptom whatever your blood tests say, they may not be able to state the cause but this should not prevent treatment. If you have been told by a doctor that your breathlessness is most likely being caused by heart problems they need to follow this up with tests don't you think? It's easy to get beat down when we think doctors are not interested or not doing all we think they should but unfortunately the only person who can address this is you. There's a phrase on these forums "be your own advocate" and you may have to be yours.

 

As far as blood tests go they should not be part of the diagnostic criteria, see difficult diagnosis, diagnosis of scleroderma and symptoms of scleroderma. You may wish to take this information to your doctor and discuss your symptoms and treatment thereof.

 

If you are going to seek a new referral why not make sure it's to a scleroderma expert?

 

Take care.


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#8 fairylights

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Posted 02 July 2013 - 03:43 AM

Hello Fairylights

 

Scleroderma can affect the heart as in my case, see my video about it, in fact heart irregularities can be one of the first symptoms of systemic scleroderma.

 

What I don't understand is your comment that your symptoms are not being treated because your blood work is negative? A doctor should treat a symptom whatever your blood tests say, they may not be able to state the cause but this should not prevent treatment. If you have been told by a doctor that your breathlessness is most likely being caused by heart problems they need to follow this up with tests don't you think? It's easy to get beat down when we think doctors are not interested or not doing all we think they should but unfortunately the only person who can address this is you. There's a phrase on these forums "be your own advocate" and you may have to be yours.

 

 

 

Thank you  :)

 

Yes, I'm aware of the heart being a major factor in scleroderma but interestingly you mentioned none of my symptoms were pointing to it?

 

I have of course I had a full work up of tests for my heart, recently and when I had my stroke in 2003 (my AF didn't show up then).  I have regular scans and I also have a murmur and two leaky valves. My present cardio is excellent and is aware of my breathlessness but HE says its nothing to do with my heart. Most AF sufferers I keep in contact with, DO have breathlessness though. I see him again in October so he will definitely carry out more tests to re-check everything.

 

I didn't say 'my symptoms' were not being treated; infections are always treated, I'm talking about when I'm feeling awful and clearly having some kind of flare, like when I have a facial rash (got one now) is that my GP doesn't put 2 and 2 together and link all of this to a possibility of it being an autoimmune problem, 'because' my ANA has always been negative. It is only this last one that has shown a change. Trust me, they poo poo any suggestion by me that I am certain there is something more going on. Getting a diagnosis confirmed is very important for me because I lost my job in the police because of my lack of, and 'symptoms' will not be taken into effect when you are trying to convince your employers that you cannot work because you feel ill all of the time.

 

I don't take any nonsense and I push all the way with my GP's. They know what I'm like :D, BUT, when you've had a stroke, any stress is unbearable and I have dreadful trouble with my recall when speaking, also explaining things and it makes life very very difficult. For instance, this has taken me an hour to write. :(



#9 Shelley Ensz

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Posted 02 July 2013 - 08:32 AM

Hi Fairylights,

 

There is a big difference between symptoms of scleroderma, and diagnosis of scleroderma. That is because systemic forms of scleroderma can affect literally every single part of the body, and of course there are thousands of other and far more common diseases that also affect various parts of the body.

 

That is why they have tried to sequester certain symptoms that are more unique to scleroderma to use as the diagnostic criteria. Although scleroderma can affect the heart, since zillions of people have heart disease, it is not 'specific' enough in itself to qualify as being a telling part of the diagnostic criteria. 

 

Symptoms that are most helpful for garnering a diagnosis of scleroderma include usually two or more of the following:  tight skin, pulmonary fibrosis, calcinosis, Raynaud's, certain esophageal issues, and telangiectasia. See our Systemic Scleroderma Symptom Checklist which is in our What in the World is Scleroderma? brochure.

 

I would recommend that you see a dermatologist, right now, about your facial rash. There are dozens of possible causes for a face rash and the sooner you know for sure the cause of yours, the better.  Also take photos of it today, because if it is decided to be a lupus malar rash, your rheumatologist would probably be quite happy to have a photo of it. When you make the appointment, let them know that you have a recurring face rash and want to be worked into the schedule quickly, if at all possible.

 

: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.

#10 fairylights

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Posted 04 July 2013 - 03:43 AM

Thanks for all the info and explanation on things Shelley. When I have had my cardiologist recheck things and confirm that breathlessness isn't linked to my AF etc, then I shall have to get GP to look into this further as it really is troublesome, so much so that some days i am puffing and panting going up the stairs at home.

 

Other problems I have are my right lower leg has tight shiny skin on the front shin, with areas/patches of red/purple spider like veins and ankle swollen. Could just be circulation problems?

 

I suffer with tendonitis in shoulders and painful muscles, especially in legs, but this could be my fibromyalgia?

 

I've recently had lots of infections/whitlow type painful splits/areas on my finger tips, which thankfully disappeared after a long course of antibiotics I was taking for a lung infection. 

 

I guess its just a wait and see situation and keep on at my GP.

 

Thanks again.



#11 Joelf

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Posted 04 July 2013 - 11:14 AM

Hi Fairylights,

 

Please bear in mind that I have no medical training (although I do get quite a lot of pleasure telling my long suffering doctors how to do their job ;))  but it's possible that the areas you describe in your legs could be Liver Reticularis and I've included a link to give you some more information and also a link to a previous thread Skin Marks Anyone? which I hope you'll find interesting.

 

Kind regards,

 

 

 

 

 

 


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#12 fairylights

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Posted 10 July 2013 - 01:32 PM

Quick update: Due to latest ANA and medical history/symptoms over a period of time, have been told possible Seronegative Antiphospholipid Syndrome (Hughes Syndrome) or Seronegative Lupus.

 

Have studied both and must say the Hughes Syndrome sounds very much like me, could almost have written it myself.

 

Good to know whats going on at last...phew!

 

Thanks again everyone for all your input...

 

Take care



#13 Joelf

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Posted 10 July 2013 - 10:53 PM

Hi Fairylights,

 

I'm pleased to hear that you're getting somewhere at last; uncertainty is one of the worse things!!

 

Here's a link to our medical page on Antiphospholipid Syndrome. I suffer with "sticky blood" and in fact did develop a DVT (long and rather tedious story, with which I won't bore you now!! ;))

 

Kind regards,


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#14 Amanda Thorpe

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Posted 15 July 2013 - 11:47 AM

Hello Fairylights

 

Now that's progress, no diagnosis to a possibly two! That said neither possibility is something you'd select off the shelf!

 

I hope you get more confirmation soon and that they can treat you.

 

Take care.


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