Undiagnosed

Hello, I have had very elevated CRP, ESR and platelet counts for about 2 years. Elevated c3 and c4 negative ANA and low Vit D. They have suggested Undifferentiated Connective Tissue Disorder and now Spondolaropathy. I have light sensitivity, migraines, arthiritis, tendonitis, Raynards syndrom and several other joint problems. I was thinking it was lupus but have not tested positive for ANA. They have tried, sulfasalizine, methotrexate, and CellCept, nothing has improved my inflammatory markers or symptoms. The last few months I have had a skin rash that was diagnosed as Pruritis Nodulares. The doctors are at a lost to figure out the problem. The waiting and guessing has taken a serious toll on me and my previously diet controlled diabetes has gotten out of control. Now, I am on 3 meds just for that. I am at my wits end to what this could be.

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I think feeling uncertain about what is going on is the hardest thing to deal with of all so I’m very sympathetic to your situation.

But I’ve been hanging about various HU communities with some uncertainty for 7 years now despite several diagnosis. I’m now correctly diagnosed with at least 2 autoimmune diseases and it helps to have a name to blame - but not perhaps as much as I would have expected it to. The reason I still have uncertainty is because I’m seronegative and seronegative autoimmunity will be a slippery beastie and there’s no way around this.

The thing we really have in common however is the drugs we’ve tried and the fact that our inflammatory markers continue to be raised no matter what.

In my case I’m slowly becoming more reconciled to the idea that my numbers are raised (ESR/PV, C3 & 4, IgG and IgA plus CRP) in part because I have Sjögren’s. Apart from CRP - Sjögren’s uniquely causes the inflammation markers to be elevated, not because of inflammation, but because of concentration of antibodies such as IgG and ANA.

So my specialists say that these only tell us that I have an autoimmune disease/ CTD and not that I have high disease activity. So my specialists have stopped paying heed to these. Which I personally feel is wrong - particularly because my CRP (currently the lowest its ever been due to Mycophenolate/ Cellcept or maybe just a one off low reading of 7.5) is very reflective of pain for me.

I’m also hypothyroid and have a very neurological presentation of Sjögren’s. I was previously diagnosed with seronegative RA and had a year of being undiagnosed in between. This is how I know it’s a kind of hell - but I’m still always half expecting to have other diagnoses added in so the uncertainty prevails nonetheless.

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I have also been diagnosed with Sjogrens as well but only my SSA was indicative and not my SSB so my Rheumatologist doesn't think that is correct.

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No it’s the SSA that counts more - ie anti Ro positive - your rheum seems not to know nearly enough about Sjögren’s! Failing that there’s the lip biopsy which got me definitively diagnosed.

Arthritis Research UK - diagnosing Sjögren’s page:

“Blood tests – People with Sjögren’s syndrome often have high levels of antibodies in their blood. These can be measured with blood tests. High antibody levels can make your blood thicker than usual, and this is measured by an erythrocyte sedimentation rate (ESR) test. The ESR measures how fast the cells in a tube of blood settle. The thicker your blood, the faster the cells settle and the higher the ESR.

People with Sjögren’s syndrome often have very high ESR levels regardless of whether they feel well or ill. In Sjögren’s syndrome, the ESR or other measurements of inflammation such as C-reactive protein (CRP) aren't very useful in assessing how active the condition is – unlike in lupus or rheumatoid arthritis.

Two particularly important antibodies are called anti-Ro and anti-La antibodies. They’re found in 75% (anti-Ro) and 40–50% (anti-La) of people with primary Sjögren’s syndrome and can also be seen in patients with lupus. If you have anti-Ro and/or anti-La antibodies along with dry eyes and/or a dry mouth, it’s very likely that you have Sjögren’s syndrome.

Lip biopsy – Several tiny salivary glands may be removed from your lower lip under a local anaesthetic and examined under a microscope. This is increasingly being done to assess the future risk of lymphoma. If there are no early signs then the possibility of developing lymphoma in the future can almost be ruled out. And if the test does suggest a possible risk of lymphoma then this can be monitored and treated as appropriate.

Further specialised tests may be needed if you develop swelling in the lymph glands (in the neck, armpits or groin) or if you have complications involving the chest, kidney, liver or nervous system”

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Thanks for the information as my glands have been swollen as well

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Definitely worth pushing for proper diagnosis and investigations then!

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Hi MNJones76,

I'm sorry to hear that you are having difficulty getting a diagnosis for your symptoms. I'm glad to see that Twitchytoes has offered some good support and advice. If you are unsatisfied with your current diagnosis and treatment regimen then it may be worth asking your GP to refer you to another rheumatologist for a second opinion.

How long did you take the methotrexate and cellcept for? Have you been offered hydroxychloroquine at all?

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I took Methotrexate for about 10 months and CellCept for 6 months. I have not bee offered hydroxychloroquine at all...

I did go to another Rheumatologist and he believed that I had Osteoarthropathy and gave me a dose of Reclast intravenously. That cleared up the bone pain I was having but nothing else and my inflammatory markers never went down.

A muscle biopsy confirmed myositis (polymyositis). One suggestion was Spondyloarthropathy but, the two Rheumatologist do not agree. I am now seeking a 3rd opinion.....

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Have you requested a third opinion yet? Perhaps it would be helpful to request a referral to someone with a specialist interest in connective tissue diseases? If you'd like to let me know what area you are in I can tell you about any specialists who we may know nearby?

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You may have overlapping connective tissue diseases if you have Sjögren’s and Polymyositis? I met someone with Sjögren’s and Myositis confirmed by muscle biopsy same as you.

I’m thinking I have additional CTDs m because I’m starting to recognise signs of Vitiligo on my face and I have a strong suspicion that I have APS/ Hughes. I think this is called Multiple Autoimmune Syndrome? X

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I really hope they figure things out for you as well. I have many symptoms of Lupus, high titer but a negative ANA. They have not done the DS-DNA. Hopefully it all comes together and shows something they can confidently diagnose. I pray the same for you.

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