Mixed connective tissue disease (MCTD) is an uncommon autoimmune disorder that causes overlapping features of primarily three connective tissue diseases — lupus, scleroderma and polymyositis. Mixed connective tissue disease also may have features of rheumatoid arthritis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease.
Indications of these diseases usually don't appear all at once, which complicates the diagnosis of mixed connective tissue disease. People with mixed connective tissue disease often are first diagnosed with lupus. As the disease progresses and other signs and symptoms become apparent, the diagnosis is updated.
Mixed connective tissue disease occurs most often in women and is usually diagnosed in their 20s and 30s. Occasionally children are diagnosed with mixed connective tissue disease.
Early indications of mixed connective tissue disease typically are nonspecific and may be mistaken for any of the three connective tissue diseases — lupus, scleroderma and polymyositis. Signs and symptoms include:
- Raynaud's disease — blood vessel spasms that interrupt blood flow to the fingers, toes, ears and nose
- Fatigue
- General feeling of being unwell (malaise)
- Muscle pains (myalgias)
- Joint pains (athralgias)
- Mild fever
- Joint swelling
- Swollen hands and puffy fingers
For me, it all began with Raynaud's phenomenon. I remember as early as middle school dealing with "cold hands". My symptoms began in college and since then the big symptoms that I suffer from are: Raynaud's, joint pain, joint swelling and swollen hands. Fortunately it has not affected my other major organ systems yet however my doctors are constantly checking my lab work for any signs that something might be going on.
My condition is managed through medication. The big medication that I take is methotrexate, in the DMRD family or Disease Modifying Rheumatic Drug. It functions by suppressing my immune system so that my body will stop attacking the connective tissues in my body. The big side effect is that I am vulnerable to illness- hence the case of chronic bronchitis I have been fighting since November! Other medications include medications for hypertension (both inherited as well as part of the condition), anti-inflammatory drugs for swelling, medication for pain (both narcotic and non-narcotic-depending on the pain), and steroids as needed for a flare up. Occasionally I have problems sleeping so sometimes I use Ambien. Sleep is very important for me as exhaustion sure fire way to a flare up for me. Sleep is also when the body can heal and restore itself. I strive for 7-9 hours of sleep every night. One or two days with less than 7 hours, and things can go downhill fast!
My current doctor (who ROCKS! He is a triathlete as well!!) has told me that about 50% of people with UCTD go on to a definitive diagnosis of rheumatoid, lupus, scleroderma, etc and the other 50% just remain UCTD their whole lives. Knowing my mother has rheumatoid and her father did as well, I have a feeling I know where my diagnosis is headed. The good news is I have been on treatments for over 10 years so hopefully my joint damage is minimal however I know this is something I will have to deal with for my entire life.
