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Mixed Connective Tissue Disease


Disease: Mixed Connective Tissue Disease Mixed Connective Tissue Disease
Category: Other Diseases
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Disease Definition:

The rare autoimmune disorder that causes signs and symptoms of several other connective tissue diseases is called mixed connective tissue disease (MCTD). Features of three other diseases; scleroderma, polymyositis and lupus, are experienced by people with mixed connective tissue disease. That's why sometimes they refer to mixed connective tissue disease as an overlap disease.

The signs and symptoms of these three other diseases usually don't appear all at once. This makes diagnosing mixed connective tissue disease kind of complicated. In the beginning, people with mixed connective tissue disease are often diagnosed with lupus. However, the diagnosis is corrected as the disease progresses and other signs and symptoms become apparent.

Mixed connective tissue is usually diagnosed in young adults in their 20s and 30s, and it occurs most often in women. Occasionally, children have also been diagnosed with mixed connective tissue disease.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


There is no unique set of signs and symptoms for mixed connective tissue disease. Instead of that, signs and symptoms of scleroderma, polymyositis and lupus appear in people with mixed connective tissue disease; these signs and symptoms include:


  • Mild fever
  • Joint pain
  • Muscle weakness
  • Raynaud's phenomenon, a condition that interrupts blood flow to the nose, fingers, ears and toes due to blood vessel spasms.
  • Joint swelling
  • Fatigue
  • Swollen fingers


What causes mixed connective tissue disease is still not known. This disease is part of a larger group of diseases known as autoimmune disorders. The immune system that is responsible for fighting off disease mistakes healthy, normal cells for intruders when someone has an autoimmune disorder. This will damage healthy tissue in the body, resulting in signs and symptoms of disease.  

What causes the immune system to attack the body is not understood. A complex mix of chemicals, viruses and genetic factors are believed to play a role.

What puts people at risk of mixed connective tissue disease is not known. Research has shown that in people with a family history of connective tissue diseases, this disease may occur more frequently. People exposed to certain chemicals including silica and vinyl chloride are also shown to have an increased risk. To confirm these findings, more research is needed.



Serious complications may be caused by mixed connective tissue disease and its treatment; these complications include:

Pregnancy complications:
Flares during pregnancy may be experienced by women with mixed connective tissue disease. The risk of being born with a low birth weight is increased in babies born to women with mixed connective tissue disease. A woman should talk to her doctor if she has this condition and is planning to become pregnant.

Heart disease:
There is a risk of developing heart conditions such as inflammation around the heart (pericarditis) and enlargement of parts of the heart in people with mixed connective tissue disease. With an electrocardiogram, the doctor may routinely monitor the patient's heart.

Pulmonary hypertension:
The most common cause of death in people with mixed connective tissue disease is high blood pressure affecting the arteries in the lungs (pulmonary hypertension). When having pulmonary hypertension, one may experience chest pain or difficulty breathing. To control pulmonary hypertension, people with mixed connective tissue disease usually need to take medications.

Side effects of long-term corticosteroid use:
To manage the signs and symptoms of mixed connective tissue disease, corticosteroids are commonly used. But these medications don't come without risks despite the fact that they're effective. The patient will likely be monitored for adverse effects such as muscle weakness, infection and bone loss due to osteoporosis or avascular necrosis when taking corticosteroids.


Although treatments can help manage the signs and symptoms of the disease, mixed connective tissue disease has no cure. Because the signs and symptoms of the condition may be different in each patient, the treatment may vary as well.

The most common treatment for mixed connective tissue disease is corticosteroids such as prednisone, but there’s no standard treatment. Based on the signs and symptoms of the patient, other treatments may be used. For example, trying medications typically prescribed for people with lupus may be suggested if the signs and symptoms the patient is experiencing are very similar to those of lupus.

A person may require constant medication, or he/she may require them only during flares.
Treatment may not be needed for people with mild forms of mixed connective tissue disease. To ensure that the signs and symptoms are adequately controlled, the patient should work with the doctor.


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