Mixed connective tissue disease
Mixed connective tissue disease
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 may begin years before other symptoms. As the disease progresses, it can affect any of the major organ systems, including skin, joints, muscles, heart, lungs, gastrointestinal tract, kidneys, central nervous system and blood cells.
When to see a doctor
Doctors don't know what causes mixed connective tissue disease. The disease is part of a larger group of diseases known as autoimmune disorders. When you have an autoimmune disorder, your immune system — responsible for fighting off disease — mistakes normal, healthy cells for intruders. As a result, healthy tissue in your body is damaged, causing signs and symptoms of disease. In connective tissue diseases, your immune system mistakenly attacks healthy connective tissue.
It isn't clear what causes your immune system to attack your body. Doctors believe a complex mix of viruses, chemicals and genetic factors may be involved.
Doctors don't know what puts you at risk of mixed connective tissue disease. Some research shows the disease may occur more frequently in people with a family history of connective tissue diseases. Other findings show an increased risk in people exposed to certain chemicals, including vinyl chloride and silica. More research is needed to confirm these findings.
Mixed connective tissue disease and its treatment can lead to serious complications, including:
Preparing for your appointment
You're likely to start by seeing your family doctor or a general practitioner. However, in some cases when you call to set up an appointment, you may be referred immediately to a rheumatologist.
Here's information to help you prepare for your appointment and make the most of your time with your doctor.
What you can do
Preparing a list of questions for your doctor will help you make the most of your time together. List your questions from most important to least important. For mixed connective tissue disease, some basic questions to ask your doctor include:
Don't hesitate to ask other questions during your appointment anytime you don't understand something or need more information.
What to expect from your doctor
What you can do in the meantime
Tests and diagnosis
Your doctor may suspect mixed connective tissue disease based on your signs and symptoms. A physical exam may reveal signs such as swollen hands and painful, swollen joints.
A blood test can determine whether you have a certain antibody in your blood that indicates mixed connective tissue disease. The presence of this specific antibody — called U1-RNP — can help confirm your doctor's suspicions.
Mixed connective tissue disease usually develops slowly, making it difficult to diagnose. As your symptoms evolve — sometimes over many years — your diagnosis may change. Many people are first diagnosed with lupus and later re-diagnosed with mixed connective tissue disease. Others begin with a diagnosis of undifferentiated connective tissue disease — which means it's unclear which connective tissue disease you have — that later becomes mixed connective tissue disease or, possibly, lupus.
Treatments and drugs
There's no cure for mixed connective tissue disease, but medication can help manage the signs and symptoms of the disease. Mild forms of mixed connective tissue disease may not require treatment. You may require treatment only during flares or, if you have a more serious form of the disease, you may require continuous medication.
Few studies of alternative medicine have been done on people with mixed connective tissue disease, and no alternative therapy has been proved to work. However, alternative treatments may help you cope with signs and symptoms of mixed connective tissue disease. Talk to your doctor if you're interested in trying:
Coping and support
Living with a chronic disease that has no cure can affect your life in a number of ways. To help cope with your condition, you can:
Last Updated: 2010-02-20
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