MS or something more systemic?

[Pinky61]

Hello,

I'm a 25 year old female who's generally been in good health except for the past year or so. The first sign that something was wrong was April of last year when I developed two nodules on my ankle. One was the size of a quarter, the other was a bit smaller. The skin on them was thick, scaly, and slightly pink. They weren't in areas rubbed on by my shoes.  I went to a dermatologist where I was seen by a physician's assistant who said it was just "thick skin". They went away after a couple of months and didn't scar.

In August, I developed the first of my red eye episodes. They weren't painful, itchy, watery, or full of pus and would go away after a couple of days. One eye at a time was affected at a time but my left eye was affected more often. This was happening at least once a month. I went to an opthamologist and had the Schirmer's test which was very abnormal.  I use drops frequently which helps a bit but doesn't entirely solve the problem.

The worst thing happened in December. I developed fever, a really large mouth ulcer, arthritis, painfull sore throat and numbness on the right side of my body from the shoulder down. Most of the symptoms went away except for the numbness which stayed for a few weeks. I went to a neurologist where I had a MRI that showed a lesion at C3-C4 and lesions in the brain. Neurologist called it MS even though such an episode has happened only once. I had a CSF analysis that was unremarkable and normal visual evoked potentials which would be a bit unsual for MS but the neuro insisted on putting me on Copaxone.

A couple weeks later, I developed a systemic rash that consisted of small, pinpoint, red dots that was on my forearms, legs in the area on the inside of the knees, abdomen, and face. The rash lasted about 2 days. I also developed low grade fevers (101-103 using an ear thermometer) and mouth ulcers that would come and go. This lasted for a month or so and I'm now asymptomatic.

I've had losts of blood tests including CBC, ANA, lyme, VRDL, chest x-ray, and B12 that were all negative. I still feel like my symptoms would be better explained by a more systemic disease than MS with the skin and eye involvement. My questions are:

1) Could I still have a rheumatologic illness even with a negative ANA?

2) Would you advise a rheumatology consult in my case?

3) I realize that you can't diagnose me over the internet, but are there any other tests you would recommend? Can anything account for the symptoms I have?

Thank you and I apologize if this is so long. I just haven't been able to find a doc yet who is willing to consider my whole clinical picture.

[missmellie]

please be tested for the HLA 27B gene. this is a systemic rheumatic disease, i am 36 was diagnoed this year after ten years of misery with fatigue pain numbness tingling etc and blurry vision, really thought is was MS but was diagnosed by a brilliant doctor after only the third visit, he included that one test for the gene and boom there it was, after evaluating my sympoms etc i had a diagnosis, yeah its a chronic disease but now i am not going out of my mind, by the way most docotrs don't test fro it in women, do you have hip, calf leg pain at all it can be on one side or both in the heels of you feet, it can basically affect any joint ligament in the body especailly in women the chest wall and ribcage.  don't think that it just affects the spine it doesn't.. it can casue inflammation of the eyes, soory i can't think of it at the moment. and in As pain is amplified 10 worse than the ordinary person as this is what the faulty gene does make you feel pain a lot worse than most that is why my doctor labels it the whiner disease.
women are so often misdignosed with fibro, of course you can have this as a overlapping illness but generally if you have the HLA 27B gene AS is the culprit.
i had the butterfly rash across my face and down by arms. on my arms it has never gone away, no wonder they thought it was lupus ms etc. this disease is not caused by injury accident, but most of the time normal aches and pains that you associate with an accident don'rt seem to get better, so most of the time people are lead up the garden path so to speak thinking that is is the injury when in fact they probably have a systemic disease that haflared up.  

please be aware that any medications you could be taking could also be causing your ailments, it always amazes me that after reading some posts on here the amount of meds some people are on complaining of tingling fatique etc when all along it probably the meds that are causing it all

you sound though that you are quite ill, another thing for you is to go to an allergy and asthma clinic to see if you are allergic to something in your enviroment. i would take nightly showers so if there is something you are reacting to its not living in you when you go to bed
good luck and gos bless i hope you find out soon waht is ailing you

[holisticone]

I've been seeing alot of "unexplained" symptoms like this - consider viral possibilities.  Important to build your immune system.  Check into any environmental possibilities.

[Kevin Pho, MD]

To answer your questions:
1) A rheumatologic disease is still possible despite a negative AMA.

2) If there is concern or suspicion about a systemic rheumatological disease, a rheumatology evaluation is advised.

3) You have had a pretty comprehensive evaluation.  Rheumatological disease like Sjogren's can be considered given the eye symptoms.  Rheumatoid factor, anti-Ro/SSA, anti-La/SSB, and protein electrophoresis can all be added to the workup.  A referral to another neurology opinion and a dermatologist to evaluate the rash can also be considered.  

These options can be discussed with your personal physician.

Followup with your personal physician is essential.

This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.

Kevin, M.D.
kevinmd_

[MLWTR]

It might be worth seeing a rheumatologist, if you haven't already. As you say, you have quite a few systemic symptoms, and there are plenty of rheumatological disorders aside from lupus to consider (you don't have to be ANA-positive). Perhaps some form of vasculitis?

Good luck and I hope you feel better.