Disease: Connective Tissue Disease

    What is a connective tissue disease?

    Connective tissue diseases are actually a group of medical diseases. A connective tissue disease is any disease that has the connective tissues of the body as a primary target of pathology. 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 protein molecules, collagen and elastin. There are many different types of collagen protein that vary in amount in each of the body's tissues. Elastin has the capability of stretching and returning to its original length, like a spring or rubber band. Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. In patients with connective tissue diseases, it is common for collagen and elastin to become injured by inflammation.

    Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).

    Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases. Collagen vascular disease is a somewhat antiquated term used to describe diseases of the connective tissues that typically include diseases that can be (but are not necessarily) associated with blood vessel abnormalities.

    What causes connective tissue disease?

    The specific causes of most connective tissue diseases are not known. However, there are genetic patterns that are considered to increase the risk for developing connective tissue diseases. It is likely that a combination of genetic risks and environmental factors are necessary for the development of connective tissue disease.

    What are symptoms and signs of a connective tissue disease?

    A common symptom of a connective tissue disease is nonspecific fatigue. Depending on which connective tissue disease is present, and how active it is, a wide variety of symptoms may occur. These include fevers, muscle and joint pain and stiffness, weakness, and many other symptoms. Please refer to our articles on each particular disease (see below) for more information about symptoms.

    How are connective tissue diseases diagnosed?

    The doctor can sometimes detect a particular connective tissue disease simply by the physical examination. Frequently, blood testing, X-ray examination, and other tests can help in making a diagnosis of connective tissue disease.

    What are genetic risk factors for developing connective tissue disease?

    Connective tissue diseases that are strictly due to genetic inheritance include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (many types may have loose, fragile skin or loose [hyperextensible] joints depending on type).

    Other diseases of connective tissue cannot be regularly defined by selected gene abnormalities, such as systemic lupus erythematosus or scleroderma. These connective tissue diseases occur for unknown reasons but may have weaker genetic factors that predispose to their development. They are characterized as a group by the presence of spontaneous overactivity of the immune system that results in the production of extra antibodies into the circulation.

    What are symptoms and signs of a connective tissue disease?

    A common symptom of a connective tissue disease is nonspecific fatigue. Depending on which connective tissue disease is present, and how active it is, a wide variety of symptoms may occur. These include fevers, muscle and joint pain and stiffness, weakness, and many other symptoms. Please refer to our articles on each particular disease (see below) for more information about symptoms.

    How are connective tissue diseases diagnosed?

    The doctor can sometimes detect a particular connective tissue disease simply by the physical examination. Frequently, blood testing, X-ray examination, and other tests can help in making a diagnosis of connective tissue disease.

    What are genetic risk factors for developing connective tissue disease?

    Connective tissue diseases that are strictly due to genetic inheritance include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (many types may have loose, fragile skin or loose [hyperextensible] joints depending on type).

    Other diseases of connective tissue cannot be regularly defined by selected gene abnormalities, such as systemic lupus erythematosus or scleroderma. These connective tissue diseases occur for unknown reasons but may have weaker genetic factors that predispose to their development. They are characterized as a group by the presence of spontaneous overactivity of the immune system that results in the production of extra antibodies into the circulation.

    Source: http://www.rxlist.com

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