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- Patient Comments: Connective Tissue Disease - Diagnosis
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- Patient Comments: Connective Tissue Disease - Signs and Symptoms
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- What is a connective tissue disease?
- What causes connective tissue disease?
- What are symptoms and signs of a connective tissue disease?
- How are connective tissue diseases diagnosed?
- What are genetic risk factors for developing connective tissue disease?
- What autoimmune diseases are associated with 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.