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Medical Author:

William C. Shiel Jr., MD, FACP, FACR

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.

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Medical Editor:

Melissa Conrad Stöppler, MD

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.

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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?
• Patient Comments: Connective Tissue Disease - Experience
• Patient Comments: Connective Tissue Disease - Treatments
• Patient Comments: Connective Tissue Disease - Diagnosis
• Find a local Rheumatologist in your town
• Connective Tissue Disease Index

The autoimmune connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. These are considered classic connective tissue diseases. Each of these diseases has a "classic" presentation with typical findings that doctors can recognize during an examination. Each also has various typical blood test abnormalities and a variety of abnormal antibodies that are commonly found in blood. However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis.

Sometimes, in the early stages, doctors simply refer to the "undifferentiated" condition as a collagen vascular disease or undifferentiated connective tissue disease (UCTD) until more defined symptoms appear. The change into a more definable disease may occur over years or never happen. Furthermore, the undifferentiated features may, themselves, disappear at which point there is no disease at all.

When more than one autoimmune connective tissue disease is present in the same person their condition is often referred to as an “overlap” syndrome of connective tissue disease. One particular overlap syndrome is characterized by features of scleroderma, lupus, and polymyositis and is referred to as mixed connective tissue disease (MCTD), also known as Sharp's syndrome.

REFERENCE:

Klippel, John H., et al., eds. Primer on Rheumatic Diseases. 13th ed. New York: Springer, 2008.