Mixed connective tissue disease

Diagnosis of mixed connective tissue disease involves a physical exam, a medical history and tests. During the physical exam, your healthcare professional may check you for puffy fingers and painful, swollen joints.

Tests

You also might need the following tests:

• Blood tests. A complete blood count, also called a CBC, checks for anemia and overall health. And blood tests can measure the degree of inflammation in the body.

  A blood test can check for antibodies that are linked with mixed connective tissue disease. These are antinuclear antibodies, also called ANAs, and antiribonucleoprotein antibodies, also called anti-RNP antibodies. These antibodies must be present for the diagnosis. But not all people with the antibodies have the condition.

• Urine tests. These can help show whether the kidneys are affected and how badly.

There's no cure for mixed connective tissue disease. Medicines can help manage the symptoms.

The type of medicine you take depends on how bad your condition is and what organs it affects. Medicines may include:

• Corticosteroids. Medicines such as prednisone can help keep the immune system from attacking healthy cells and ease swelling and irritation. Long-term use can lead to serious side effects. Side effects may include mood swings, weight gain, high blood sugar, increased blood pressure, higher risk of infection, weakened bones and cataracts.
• Medicines that treat malaria. Hydroxychloroquine (Plaquenil, Sovuna) can treat mild mixed connective tissue disease. It might prevent flares of the condition.
• Calcium channel blockers. These medicines, including nifedipine (Procardia) and amlodipine (Norvasc), help relax the muscles in the walls of blood vessels. They can help treat Raynaud's phenomenon.
• Other medicines to keep the immune system from attacking healthy cells, called immunosuppressants. Your healthcare professional might prescribe other medicines based on your symptoms. For instance, if your symptoms are like those of lupus, you might try medicines most often given to people with lupus.
• Medicines to treat high blood pressure in the lungs. Your healthcare professional might prescribe bosentan (Tracleer) or sildenafil (Revatio, Viagra) to treat this condition, which also is called pulmonary hypertension.
• Medicines to treat interstitial lung disease. If you already have lung scarring, treatment won't reverse it. But treatments may stop the condition from getting worse.

  Treatments can ease symptoms for a time or slow the worsening of the condition. Your healthcare professional may prescribe corticosteroids and other medicines to help ease symptoms.

Other ways to manage symptoms of mixed connective tissue disease include the following:

• Take nonsteroidal anti-inflammatory medicines. These medicines, such as ibuprofen (Advil, Motrin IB, others) or naproxen sodium (Aleve), might help ease pain and swelling if your condition is mild.
• Protect hands from cold. Wear gloves and use hand warmers, if needed. Keeping your hands warm can help prevent Raynaud's phenomenon.
• Don't smoke. Smoking causes blood vessels to narrow. This can make Raynaud's disease worse.
• Lower stress. Stress can make Raynaud's disease worse. Find ways to lower your stress level. For instance, try deep breathing or meditation.

You might start by seeing your main healthcare professional. You then might see a doctor who specializes in joint diseases, called a rheumatologist.

What you can do

Have a friend or family member go with you to your appointment to help you remember all the information you can.

Make a list of:

• Your symptoms, including any that may not seem related to the reason you scheduled the appointment, and when they began.
• Key medical information, including other conditions you have and whether anyone in your family has had symptoms like yours.
• All the medicines, vitamins and other supplements you take, including dosages.
• Questions to ask your healthcare professional.

Some basic questions you might ask include:

• What's the most likely cause of my symptoms?
• What tests do I need?
• What treatments are there?
• I have other health conditions. How can I best manage them together?

Be sure to ask all the questions you have.

What to expect from your doctor

Be ready to answer questions, such as:

• Do you always have symptoms, or do they come and go?
• How bad are your symptoms?
• What, if anything, seems to make your symptoms better?
• What, if anything, seems to make your symptoms worse?