Mixed connective tissue disease (patient information)

Mixed connective tissue disease
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
Diagnosis
When to seek urgent medical care?
Treatment options
Where to find medical care for Mixed connective tissue disease?
Prevention
What to expect (Outlook/Prognosis)?
Possible complications
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

Overview

Symptoms of mixed connective tissue disease include cold and numb fingers or toes, swollen fingers or hands, muscle and joint pain and rash. Mixed connective tissue disease is an autoimmune disorder that your immune system mistakenly attacks healthy cells In connective tissue diseases. Your immune system attacks the fibers that provide the framework and support for your body. MCTD can occur in people of any age. However, it appears to be most common in women under the age of 30. There's no cure for mixed connective tissue disease. Corticosteroids are commonly used to manage the signs and symptoms of mixed connective tissue disease. In MCTD, prognosis depends on the type of organ involvement and the worst prognosis and high mortality rate are associated with the presence of pulmonary involvement. It can lead to serious complications, including high blood pressure in the lungs (pulmonary hypertension), Interstitial lung disease, Heart disease, Kidney damage, digestive tract damage, Anemia, tissue death (necrosis), hearing loss. 

What are the Symptoms of mixed connective tissue disease?

Symptoms of mixed connective tissue disease include:

• General feeling of being unwell: This malaise may be accompanied by increased fatigue and a mild fever.
• Cold and numb fingers or toes (Raynaud's phenomenon): In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red.
• Swollen fingers or hands: Some people experience swelling to the point where the fingers resemble sausages.
• Muscle and joint pain: Joints may become deformed, similar to what occurs with rheumatoid arthritis.
• Rash: Red or reddish brown patches may appear over the knuckles.

What Causes mixed connective tissue disease?

• The precise cause of mixed connective tissue disease is not known.
• Mixed connective tissue disease is an autoimmune disorder. In autoimmune disorders, your immune system (responsible for fighting off disease) mistakenly attacks healthy cells.
• In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Researchers are working to identify proteins produced by the immune system that might cause mixed connective tissue disease.
• Some people with MCTD have a family history of the condition. But the role of genetics in causing the disease remains unclear.

Who is at Highest Risk?

• Mixed connective tissue disease can occur in people of any age. However, it appears to be most common in women under the age of 30.

Diagnosis

• Mixed connective tissue disease has signs and symptoms of a combination of disorders — primarily lupus, scleroderma and polymyositis.
• An x-ray may be helpful in the diagnosis of complications of mixed connective tissue disease.
• Computed tomography may be helpful in diagnosis of interstitial lung disease and the presence of esophageal dilatation.

When to Seek Urgent Medical Care?

See your doctor if you have signs and symptoms that interfere with your daily routine — particularly if you've already been diagnosed with lupus or another connective tissue disease.

Treatment Options

• There's no cure for mixed connective tissue disease. The signs and symptoms are usually treated with certain medications, such as prednisone.
• Corticosteroids are commonly used to manage the signs and symptoms of mixed connective tissue disease. These medications are effective, but they carry risks.

Where to find Medical Care for mixed connective tissue disease?

Medical care for mixed connective tissue disease can be found here.

Prevention

There are no established measures for the prevention of MCTD.

What to Expect (Outlook/Prognosis)?

• In MCTD, prognosis depends on the type of organ involvement.
• The worst prognosis and high mortality rate are associated with the presence of pulmonary involvement.

Possible Complications

Mixed connective tissue disease can lead to serious complications, including:

• High blood pressure in the lungs (pulmonary hypertension): This condition is the main cause of death in people with mixed connective tissue disease.
• Interstitial lung disease: This large group of disorders can cause scarring in your lungs, which affects your ability to breathe.
• Heart disease: Parts of the heart may become enlarged, or inflammation may occur around the heart. Heart disease is the cause of death in about 20 percent of people with mixed connective tissue disease.
• Kidney damage: About one-fourth of people with mixed connective tissue disease develop kidney problems. Sometimes, that damage can lead to kidney failure.
• Digestive tract damage: You may develop abdominal pain and problems with digesting food.
• Anemia: About 75 percent of people with mixed connective tissue disease have iron deficiency anemia.
• Tissue death (necrosis): People with severe Raynaud's phenomenon can develop gangrene in the fingers.
• Hearing loss: Often unrecognized, hearing loss may occur in as many as half the people with mixed connective tissue disease.

Sources

"Symptoms and causes - Mayo Clinic".