Are there any definitive tests for connective tissue disorders?

Question

And if so, would a Rheumatologist be the one to diagnose such a thing?

Answer 1

Yes, a rheumatologist is the specialist to see. I have a CTD (lupus) and have had lots of tests. Some of the more common ones are ANA (positive in most people with a CTD), and anti-dsDNA (double stranded DNA).

The pattern of your ANA can also be tested, I think it's an addon test that's not done as much as the standard positive/negative. I believe that most people with CTD have a "speckled" pattern on the ANA - but could be mistaken.

Since there are so many types of CTDs, there are lots of tests. Some of them are very specific, but some are really hard to pin down (like Lupus). It took my rheumatologist about 8 months before I got a "firm" diagnoses; and I've heard that's not abnormal at all. The problem with CTDs is that many of them are similar and mimic the symptoms of others.

The symptoms you're having are also very important. If you have something like Reynaud's (fingers turning white/numb), that helps narrow it down a bit. Every little thing helps - so make sure to keep track and write down anything that's bothering you.

If you haven't already, I'd talk to your primary doctor. Then he/she can refer you to a rheumatologist if they think it is something likely.

While I can't say much about any of the other CTDs besides Lupus, I think most of them are treated more as a "management" type of ongoing treatment, rather than a cure. As I'm sure you're already aware, it's not like an infection that you can just take some antibiotics and get rid of. You may have to deal with the symptoms lifelong, but with the proper medication and doctor's help, they can be much less obtrusive. I personally take Plaquenil and Imuran, which suppress the immune system, which helps keep it from attacking itself even more. Depending on your diagnoses, you may take something similar, or something completely different. Rheumatology is a fairly new medical field compared to most others, so it's evolving pretty quick.

Good luck with it all, hopefully you won't have any major problems. If you do, just take it one day at a time.

Answer 2

yes, there are.