Mixed Connective Tissue Disease
(MCTD)

Medical Author: William C. Shiel Jr., MD, FACP, FACR
Medical Editor: Dennis Lee, MD

• What are connective tissues?
• What diseases characteristically affect connective tissue?
• What is mixed connective tissue disease?
• How is mixed connective tissue disease diagnosed?
• How is mixed connective tissue disease treated?
• Mixed Connective Tissue Disease At A Glance

What are connective tissues?

The connective tissues are the structural portions of our body that essentially hold the cells of the body together. These tissues form a framework or matrix for the body. The connective tissues are composed of two major structural molecules, collagen and elastin. There are many different collagen proteins that vary in amount in each tissue of the body. Elastin is another protein that has the capability of stretching and returning to original length like a spring. Elastin is the major component of ligaments (tissues which attach bone to bone).

Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. Connective tissue diseases are often characterized by a variety of immune abnormalities that are common for each particular type of illness.

What diseases characteristically affect connective tissue?

Diseases of connective tissue that are strictly inheritable (due to genetic inheritance) include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (may have loose, fragile skin or loose [hyperextensible] joints). Pseudoxanthoma elasticum is an inherited disorder of elastin.

Other diseases of connective tissue do not have specific gene abnormalities as their sole cause. These connective tissue diseases occur for unknown reasons. They are characterized as a group by the presence of spontaneous over activity of the immune system, which results in the production of unusual antibodies into the blood.

The classic immune-related connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. Each of these diseases has a characteristic presentation with typical clinical findings that doctors can recognize during an examination. Each also has characteristic blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. When these conditions have not developed the classic features of a particular disease, doctors will often refer to the condition as "undifferentiated connective tissue disease." This implies that the characteristic features that are used to define the classic connective tissue disease are not present, but some symptoms or signs of connective disease exist. Individuals with undifferentiated connective tissue disease may never develop a fully definable condition or they may eventually develop a classic connective tissue disease.

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