Connective-Tissue-Disease

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.

Symptoms

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 Fatigue 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 Causes

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.

Complications

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.


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