Mixed Connective Tissue Disease (MCTD)

What is mixed connective tissue disease (MCTD)?

Mixed connective tissue disease (MCTD) is a rare systemic inflammatory rheumatic disease that has the signs and symptoms of a combination of disorders: lupus, scleroderma, and polymyositis. The symptoms of these diseases usually don’t appear all at once, but rather in a sequence over a number of years. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease. MCTD appears to be the most common in women under the age of 30.

What causes mixed connective tissue disease (MCTD)?

The exact cause of MCTD is still largely unknown, but MCTD is considered an autoimmune disorder in which the immune system, responsible for fighting off disease, attacks healthy cells by mistake. Some people with MCTD have a family history of the disease, but still the role of genetics is unclear.

What are the symptoms of mixed connective tissue disease (MCTD)?

Early indications of MCTD can include:

General feeling of being unwell
Cold and numb fingers or toes
Swollen fingers or hands
Muscle and joint pain
Rash consisting of red or brownish patches on the knuckles

How is mixed connective tissue disease (MCTD) diagnosed?

Because the symptoms of MCTD do not occur all at once, diagnosis is more complicated. After a clinical examination and review of patient and family history, a doctor will conduct the following tests to help confirm a diagnosis of MCTD:

Physical exam to check for swollen hands and painful, swollen joints
Blood tests to determine any antibodies that are associated with MCTD

What are the available treatments for mixed connective tissue disease (MCTD)?

There is no cure for MCTD, but the signs and symptoms can usually be treated with certain medications, most commonly prednisone. Other medications can include:

Other corticosteroids
Antimalarial drugs
Calcium channel blocks
Immunosuppressants
Pulmonary hypertension medications

In addition to these, over-the-counter anti-inflammatory drugs, protecting from severe cold, ceasing smoking, and reducing stress will also control the symptoms of MCTD. Patients may only need treatment during flare-ups.

Where can I find out more about mixed connective tissue disease (MCTD)?