What Is Mixed Connective Tissue Disease?

Mixed connective tissue is a rare autoimmune disease, in which a person’s immune system attacks parts of their body. Learn the symptoms and how medication can help.

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder, in which a person’s immune system attacks parts of their body. MCTD got its name because it has symptoms and signs of several different autoimmune diseases that affect connective tissue, including lupus, scleroderma, and polymyositis.

In addition, some people diagnosed with mixed connective tissue disease also have symptoms of rheumatoid arthritis, the National Institute of Health’s (NIH) Genetic and Rare Diseases Information Center (GARD) points out.

So far, while looking for the answer to “what is mixed connective tissue disease,” scientists have been unable to identify the exact reason or trigger causing the immune system to attack the body’s tissues in MCTD. Some studies, however, suggest there may be a genetic factor because mixed connective tissue disease seems to occur more often in people who have family members with the disease. The Arthritis Foundation also points out exposure to certain viruses or chemicals may possibly cause MCTD.

Cases of mixed connective tissue disease have been diagnosed in all ethnic groups and races, and no one group seems to be more likely to develop the disease — with one exception. Women have more than three times the risk of developing mixed connective tissue disease than men, GARD notes.

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Symptoms of mixed connective tissue disease

MCTD can develop at any age, but symptoms of mixed connective tissue disease are more likely to begin between the ages of 15 and 25.

Early symptoms of mixed connective tissue disease may include fatigue, muscle and joint pain, and mild fever. Fingers can feel cold and numb and may swell until they have a sausage-like shape, according the Arthritis Foundation.

GARD points out some or all of these additional symptoms of mixed connective tissue disease may occur:

• Skin changes, such as lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, and dilation of small blood vessels around the fingernails
• Dysfunction of the esophagus, causing problems with swallowing
• Hair loss (alopecia)
• Abnormal lung function, sometimes leading to breathing difficulties or pulmonary hypertension
• Heart involvement (less common in MCTD than lung problems), including inflammation in parts of the heart and a leaking of the aortic valve
• Lymphadenopathy (swollen lymph glands)
•  Kidney disease
• Neurologic abnormalities (affecting about 10 percent of people with MCTD) including seizures, vascular headaches, cerebral thrombosis (a blood clot blocking blood flow to the brain), and a variety of neuropathies — various sensory disturbances in multiple areas of the body
• Anemia (too few red blood cells) and leukopenia (unusually low counts of infection fighting white blood cells) in 30 to 40 percent of those with MCTD
• Splenomegaly (enlargement of the spleen)
• Hepatomegaly (enlargement of the liver)

Treatment and outcomes for people with MCTD

If you are diagnosed with MCTD, you’ll likely ask your doctor several questions — including what is mixed connective tissue disease, is there a cure, and is mixed connective tissue disease deadly?

While research continues to search for what causes MCTD and a possible cure, certain medications have been found to relieve and manage mixed connective tissue disease symptoms. Non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunosuppressive drugs can help control pain, inflammation, and other symptoms. Additional treatments may be prescribed depending on what organs and areas of your body are affected.

Some people with MCTD need continuous treatment, but others need medication only when they experience flares — periods of heightened disease activity.

Although the experts at the NIH’s GARD report the long-term outlook for people with MCTD is favorable, the prognosis for individuals primarily depends on the signs and symptoms of mixed connective tissue disease that each person experiences.

When it comes to the question is mixed connective tissue disease deadly, the good news is that, in fact, the overall 10-year survival rate for people with the disease is high — about 80 percent. In fact, symptoms disappear in some people, without treatment, for many years.

The disease does progress in about 13 percent of those with MCTD, and complications can potentially be fatal. The best way to stay as healthy as possible and live a long life with mixed connective tissue disease is to work with your doctor on treatments. Healthy lifestyle changes — including reducing stress, stopping smoking, and protecting your hands from cold weather — can also help manage the disease.

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