Connective Tissue Disease (cont.)
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
In this Article
- 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?
- Find a local Rheumatologist in your town
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.
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