Connective Tissue Disease

  • Medical Author:
    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.

  • Medical Editor: Melissa Conrad Stöppler, MD
    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.

Symptoms of Rheumatoid Arthritis

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 autoimmune diseases are associated with connective tissue disease?

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.

Medically reviewed by Kirkwood Johnston, MD;American Board of Internal Medicine with subspecialty in Rheumatology

REFERENCE:

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

Last Editorial Review: 11/6/2015

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Reviewed on 11/6/2015
References
Medically reviewed by Kirkwood Johnston, MD;American Board of Internal Medicine with subspecialty in Rheumatology

REFERENCE:

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

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