By Mayo Clinic staff
Original Article:

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
General feeling of being unwell (malaise)
Muscle pains (myalgias)
Joint pains (athralgias)
Mild fever
Joint swelling
Swollen hands and puffy fingers

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
Make an appointment with your doctor if:

You have signs and symptoms that are bothersome or interfere with your daily routine
You’ve been diagnosed with lupus or other connective tissue disease and you begin developing new signs and symptoms


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.
Risk factors

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:

Pulmonary hypertension. High blood pressure affecting the arteries in your lungs (pulmonary hypertension) is the most common cause of death in people with mixed connective tissue disease. You might experience difficulty breathing or chest pain if you have pulmonary hypertension. People with mixed connective tissue disease usually need to take medications to control pulmonary hypertension.
Heart disease. Mixed connective tissue disease puts you at risk of developing heart conditions, including enlargement of parts of the heart and inflammation around the heart (pericarditis). Your doctor may routinely monitor your heart with an electrocardiogram.
Side effects of long-term corticosteroid use. Corticosteroids are commonly used to manage the signs and symptoms of mixed connective tissue disease. These medications are effective, but they carry risks. If you take corticosteroids, your doctor will likely monitor you for adverse effects, such as bone loss due to osteoporosis or avascular necrosis, muscle weakness, and infection.
Pregnancy complications. There are conflicting studies, some of which suggest that women with mixed connective tissue disease may experience flares during pregnancy. Babies born to women with mixed connective tissue disease are at risk of being born with a low birth weight. If you’re planning to become pregnant, talk with your doctor about this risk.

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

Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there’s anything you need to do in advance, such as restrict your diet.
Write down symptoms you’re experiencing, including any that seem unrelated to the reason for which you scheduled the appointment.
Write down key personal information, including any major stresses or recent life changes.
Make a list of all medications, vitamins or supplements you’re taking.
Take a family member or friend along, if possible. Sometimes it can be difficult to soak up all the information you get during an appointment. Someone who accompanies you may remember something that you missed or forgot.
Write down questions to ask your doctor.

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:

What is likely causing my symptoms or condition?
Other than the most likely cause, what are other possible causes for my symptoms or condition?
What kinds of tests do I need?
Is my condition likely temporary or chronic?
What is the best course of action?
What are the alternatives to the primary approach you’re suggesting?
I have these other health conditions. How can I best manage them together?
Are there any restrictions that I need to follow?
Should I see a specialist?
Is there a generic alternative to the medicine you’re prescribing?
Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend?

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
Your doctor is likely to ask you a number of questions, including:

When did you begin experiencing symptoms?
Have your symptoms been continuous or occasional?
How severe are your symptoms?
What, if anything, seems to improve your symptoms?
What, if anything, appears to worsen your symptoms?

What you can do in the meantime
To ease discomfort, take over-the-counter nonsteroidal anti-inflammatory drugs (NSAIDS), such as ibuprofen (Advil, Motrin, others) or naproxen sodium (Aleve), according to package directions.
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.

The type of medication prescribed depends on the severity of your disease and the symptoms you have. Medications may include:

Corticosteroids. These are the most common treatment for moderate mixed connective tissue disease. Corticosteroids such as prednisone help control your immune function, keeping it from attacking healthy cells, and suppress inflammation. However, corticosteroids carry significant risk, especially if you take high doses or continue taking them over time, such as mood swings, weight gain, high blood sugar, increased blood pressure and cataracts.
NSAIDS. Nonsteroidal anti-inflammatory drugs (NSAIDs) can relieve pain and reduce inflammation. Over-the-counter NSAIDs include ibuprofen (Advil, Motrin, others) and naproxen sodium (Aleve). Stronger versions of these NSAIDs and others are available by prescription. Oral NSAIDs can cause stomach upset, so some prescription NSAIDs come in a patch that you affix to your skin or in a gel form that you can rub on the painful joint. Other NSAID side effects include ringing in your ears, cardiovascular problems, and liver and kidney damage. The risk of major side effects is greatest if you use NSAIDs at high dosages for long-term treatment.
Other immunosuppressants. Other treatments may be based on your signs and symptoms. For instance, if the symptoms you’re experiencing are similar to those of lupus, your doctor may suggest trying medications typically prescribed for people with lupus.

Alternative medicine

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:

Acupuncture. An acupuncture practitioner inserts tiny needles into your skin at precise points on your body. Studies of acupuncture have found it may help relieve many types of pain. Acupuncture generally is safe when done by a certified practitioner. Ask your doctor for names of recommended practitioners in your community. Don’t undergo acupuncture if you’re taking blood thinners.
Fish oil supplements. Fish oil supplements have shown some promise in relieving inflammation, joint pain and stiffness. Don’t take fish oil supplements if you’re allergic to fish. Talk to your doctor first if you’re taking blood thinners. Fish oil supplements can cause an upset stomach and a leave a fishy aftertaste.
Hypnosis. During a hypnotherapy session, a therapist talks in a gentle voice that helps you relax into a state of altered consciousness. Hypnosis may help relieve pain and stress and is generally safe with a trained therapist.
Relaxation techniques. Relaxation techniques may help you take your mind off your discomfort and help you relax. Relaxation techniques include progressive muscle relaxation and guided imagery. You can learn relaxation techniques from a therapist, or you can do them on your own, using a book or a tape.

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:

Find out as much as you can about mixed connective tissue disease. Ask your doctor and other health care team members for assistance in finding reliable resources. The more you know about the disease, the easier it is to understand what’s happening to your body.
Take good care of yourself. Eat a balanced diet with plenty of fruits and vegetables. Exercise to the best of your ability. Find ways to relieve stress, such as meditating or listening to music. Staying healthy may ease your signs and symptoms or help you deal with them better.
Seek support from others. Social support helps you cope with the stress of mixed connective tissue disease. Ask your doctor about support groups in your area for people with chronic illnesses. Go online to connect with other people living with mixed connective tissue disease. If support groups aren’t for you, consider talking to a counselor who works with people with chronic disease.

DS00675 Feb. 20, 2010

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