Since I was 17, I have some underlying problem that has waxed and wane over the years including joint, muscle and neuropathic pains, fatigue. Now 45, my symptoms are increasing and worsening. At 17 and during my 20's, I had an ANA 1:640 speckled pattern and was positive for Anti-histones on several occasions, but never had any other postive subsets for the various autoimmune diseases. When I was 26, they wanted to rule out scleraderma because my sister had CREST syndrome and therefore I had a skin biopsy. The biopsy showed increased collagen consistent with lupus, scleraderma and others, but it was nonspecific. A specialist did a nailfold capillary microscopy and concluded that I didn't have scleraderma, but wondered about Sjogren's, although I was negative for those antibodies. I do have dry mouth and eyes and frequent costipation now. Over the years, I have been getting more and more neurological involvement during my flare-ups and the pain has become unbearable. At 43, I saw a rheumatologist who did a complete work-up and my result were normal including, to my surprise, my ANA. He sent me to a neurologist who gave me a skin biopsy that revealed idiopathic small fiber neuropathy. It is diffuse and doesn't spare any part of me. I am simply being treated symptomatically. I am concerned because I know it is progressively getting worse and nothing is being done to find or treat the cause. I suspect that all along, I have had some undiagnosed autoimmune disease. Anyone have an opinion or advice?

Welcome CoachT.

Are you saying that you might have diffuse systemic scleroderma? Just curious.

No, I don't believe I do, although my sister does. I saw Dr. Legerton at the University of South Carolina in '96. He said I had a normal nailfold capillary microscopy. That, along with my lack of a typical history, findings on the physical exam and my speckled ANA lead him away from that diagnosis. However, he did believe there was some autoimmune process going on.

Thanks very much for your reply. I hope everything turns out fine for you and for your sister. A good doctor who knows this disease is important. It sounds like you have one. Take care.

My mom had CREST. I have neurological issues that are idiopathic, but with my family history an autoimmune cause is suspected. I had low positive results in my early 30's for ANA & antiphospholipid antibodies, now those are negative. My point is, trying to diagnose autoimmune disease through bloodwork alone is often a long and frustrating process. Maybe work with a rheumatologist who looks at the big picture, not just labwork. Have you had an EMG/NCS to look at long nerve fibers?

As you know, Scleroderma is an autoimmune disease. Body attacking itself. Interesting subject.

I have had an EMG and it is mostly fine although there is some evidence of having had damage to a compressed nerve at C5/C6. I had a pretty bad compression fracture of C5 playing high school football and had to wear a halo. Now I have a reverse curve of my neck. Virtually my entire spine is arthritic from the Cs to the Ls. I just had a epidural injection from sciatica and I will have surgery this Summer to remove C5, replace it with a cadaver's fibula and then fuse it with C4 and 6. Who knows what role all that might play with my "Pain Syndrome"?

Hi Coach,

Sorry to hear you have not been able to determine the underlying cause of your polyneuropathy and your neuropathy is getting worse. I can relate! I also have small nerve fiber polyneuropathy, confirmed by biopsy, CRPS and Erythromelalgia. Many, many tests later, I am where you are, idiopathic. My Neurologist, Rheumatologist and even a consult with a Hematologist have been unable to find an underlying disease/condition for the polyneuropathy. We know the CRPS was the result of surgery. I also failed the sweat test portion of Autonomic System Testing which helped to make this diagnosis.

The Neurologist who I see told me that she sees others in her practice who have idiopathic small nerve fiber polyneuropathy and it's common to have Erythromelalgia along with it. Disappointed and frustrated, right now, what she can offer is pain management and periodic blood tests to see if anything changes. Some patients eventually find the cause but not all she cautioned. This Doc has been researching these conditions for several years and this is all we have right now, I have tough pain in both feet, up to knees and pain in each hand, up to my elbow. One or all of my conditions are spreading with the top of my foot and front of toes now involved.

My eye Doc questions that I may have Sjogrens but I think I had testing with my Rheumatologist last year that was normal but I think I've heard that you can still have it with normal tests. Over the counter products as well as RX toothpaste for dry mouth and Restasis and plugs for my dry eyes are what I'be tried. Nothing has helped as of yet but the plugs are relatively new.

Coach, I'm sorry you have this diagnosis and I hope you get some answers
soon. Please write if I can help in any way. Folks here will help too!

Deb

I too am sorry that you have to suffer like that and hope you will find some underlying cause that you can treat. It is amazing how similar and yet different many of our symtoms are. No wonder it is so hard to diagnose. Perhaps we are suffering from the same condition, but it is manifesting itself in a differnt way.

I always hear that my symptoms are non-specific and don't fit any one known disease. As one of my many doctors put it, "There are more things we don't know than we do and, therefore, we try to eliminate the relatively few known diseases and then treat symptomatically when there is no identifialble cause." As you are well aware, it is very frustrating because, in the meantime, many of us continue to get worse. Not knowing how it will progress, I think, is the scariest part.