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Connective Tissue Disease
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Connective Tissue Disease

My sister is 45 years old.  She was diagnosed with connective tissue disease in April of this year.  She has had two positive ANA tests.  Her DR is a well respected Dermatologist in North Louisiana.  He has treated her with four protocols each more aggressive.  The last was methotrexate which ended with a trip to the Emergency Room 2 weeks ago. Her symptoms are joint pain, extreme itching with hives (up to 20 episodes per day), intolerance of heat, sleeplessness, swelling in her extremities and overall depression.  I fear that she is to the point of being suicidal.  We desperately need to find a specialist that can treat her symptoms so that she can get some relief.  She does have good insurance and we can get enough money together to fly her where ever we can find a specialist to treat her. Who are the leading authorities in this field?
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483733_tn?1326802046
She should be treated by a good rheumatologist, not a dermatologist.  It sounds like she may even have fibromyalgia on top of the connective tissue disease.  They often go together and drugs such as Lyrica, Neurontin or Savella can help tremendously.  She absolutely needs to be treated for depression.  Many people with chronic pain suffer from it and it is essential to get treated.  Dealing with the pain is so much easier with the depression lifted.
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As stated previously, your sister must see a Rheumatologist who will order an ANA Titer. That will test positive or negative to an Autoimmune disease such as Connective Tissue Disease, Rheumatoid Arthritis, Lupus etc. All of which can be managed with treatment. This will then help with her depression, she will be without the chronic pain, better nights sleep etc. I too am experiencing the same symptoms and recently had a positive ANA titer, I just saw a wonderful Rheumatologist in New Orleans: Dr. Alfredo Vichot.
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745975_tn?1258964522
hmmm something is just not right here to me. Her dx was a connective tissue disorder (autoimmune).... which would be Mixed Connective Tissue Disease (MCTD) meaning she had more then one autoimmune condition typically being lupus, scleroderma and polymyositis. Or Undifferentiated Connective Tissue Disease (UCTD).... meaning she has symptoms of several autoimmune diseases with no clear indication of one particuar disease.


So it might help to know which one specifically her Dr. thinks she has.

I am guessing that she must have had more blood tests then just the ANA. And I would also assume that she must have had more then a couple testscome out positive if she ended up with a dx of MCTD. And with that thought in mind, i am quite surprised that her Derm did not also refer her to a Rheumy.

Now if it is UCTD, then perhaps a Rheumy might not be able to do much more then the Derm in terms of treatment, but he/she might be able to run some more diagnostic tests.

I'm not a Dr., but it just seems unlikely to be MCTD as from what i've heard, scleroderma is usually the more dominant of the disease in MCTD and although it, by definition, causes skin symptoms, they are nothing like you describe above.

Do you mind if i ask some more specific questions about the rash???  Can you describe the hives?

1.  Does it begin with a burning feeling under the skin and itch terribly? What does the rash look like? Are there ever blisters?  (Could then be Dermatitis Hepaformis from Celiac disease which can also cause joint pain and a sense of felling ill.... and is easy to cure by going Gluten Free for life.)

2.Does the swelling come and go? Is her skin dryer then normal? Is it becoming shiny around her fingers or thickening in patches? Is the pigment changing? (If yes, then it could indicate MCTD w/ Scleroderma). Heat intolerance is not at all typical of scleroderma nor are hives type rashes. This does not seem to fit the bill for what is going on.

By the way, sleeplessness and intolerance to heat are CLASSIC symptoms of an over-active thyroid.... the antibodies in autoimmune thyroid disease can sometimes cause a positive ANA as well.

FURTHERMORE, Patients with over-active thyroid..(Graves' disease) can "develop hypersensitivity reactions resulting in hives, urticaria (itching), and angioedema, a type of swelling that often occurs on the neck, face, or hands. A condition of urticaria-related angioedema can also occur."

Please see if your sister can seek a second opinion, particularly if she has good insurance!!! If connective tissue disease was her only dx but no other positive test other then ANA, I am confused as to why they are treating her with aggressive protocols and drugs!!!! I'd think that they would have to strongly suspect scleroderma to pet her on methotrexate.

We are either missing some big pieces of info, or something does not seem right about what her Dr. is doing. No wonder she is depressed. Bless her for hanging in there and try to make an appt with a top notch rheumatologist.

good luck & keep us updated on her please!
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