Possible MCTD??

[akjune22]

I am a 24 female on April 30th 2007 woke up to very sore thighs; within a week later I ended up in the ER unable to literally lift my legs to put one foot in front of the other and my hands and knuckles were bright burning red and very painful. Here are my labs: ANA was 1:1280 more than once with a speckled pattern. My EBV was 3.01, CPK has been 3 and also 21. My ESR has been 57. My adolase was 14.5, and my globulin was 4.4. CRP has been 2.66. My WBC;s were initally low. Until end of June my AST was as high as 354 and my ALT was as high as 428. Since then my LFT's has gone back to normal. I would run low grade fevers and then spike into the 101's about once a week. Extreme fatigue and my lymph in neck has been swollen since this started and has not subsided. I have pain in my muscles and joints and back of my neck is very sore. The ER put me on 20mg prednisone and sent me home telling me I had fibromyalgia. The first Rheumatologis diagnosed me with UCTD. I went for a second opinion and the second one told me he was not totally convinced I had an autoimmune disease; so of course I went with him as my treating doctor. After finding out only a month later that he was considering a diagnosis of fibromyalgia. I also lost about 15 lbs when this "attack" happened. I have gained 7  back since on Prednisone since May 12th. Both Rheumatologists agreed that I needed to be  on Imuran. Yesterday I seen the Neurologist for abnormal MRI  and although he couldn't view my films at the time, he thinks I have MCTD by looking at my labs. I also seen a Dermatologist and she thought maybe Dermatomyotosis but definitely a connective tissue disease. The Dermatologist ordered the RNP and now I am awaiting that test. I am down to 10mg, (Sept 27th) and am on 150 mg Imuran since Aug 13th. I have also been taking Lyrica 75mg bid which seems to be working wonders for the pain.

[Kevin Pho, MD]

I agree with the workup thus far.  

MCTD is also part of the differential.  There are generally four "levels" of diagnosis, with each level representing a more specific test:
    * Level 1 - Positive ANA
    * Level 2 - High titer, speckled ANA pattern
    * Level 3 - Anti-U1 RNP antibodies
    * Level 4 - Anti 68 kD and A' antibodies

I would obtain the aforementioned antibodies to help confirm the diagnosis.

There is some overlap between MCTD and other rheumatologic disorders.  If there continues to be questions about the diagnosis, I would obtain another opinion preferably at a major academic medical center.

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.
www.kevinmd.com

[SoStumped]

Im sorry to hear your going through so much.  I'm 21/f and have had alot of tests done because I was experiencing (still am at times though not as bad) symptoms like yours.  I was tested for everything from HIV to Lupus. Everything came back negative. My joints, muscles, low grade fevers...the whole bit was still there.kinda.like your symptoms.  I FINALLY found a doctor who tested for Celiac and B12 levels. My Celiac was OK but I found out I am anemic and my B12 level was less than 200 and it should be around 1100.  I know it sounds silly, and I didnt believe it at first, but B12 deficiecny can do ALOT to your body. I had to change my diet (no whole wheats, or dairy by choice) but the doc reccommended i get B12 shots 1x a week for a month. Then they are going to take me off the shots and see if my levels drop.   I was freaking out because of what was happening to my body at such a young age...but bare with your doctors and try not to give up. You may be suprised to find out that you were experiencing such aweful symptoms from lack of B12 or something not as serious as you may think. I know i was..and I was stressed which made EVERYTHING worse.  Maybe you should ask your doctor o check B12...  It may help you too.
Just a though---i'm no doctor though.

God Bless