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- What is a connective tissue disease?
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- 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 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.
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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
Klippel, John H., et al., eds. Primer on Rheumatic Diseases. 13th ed. New York: Springer, 2008.
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Klippel, John H., et al., eds. Primer on Rheumatic Diseases. 13th ed. New York: Springer, 2008.
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Top Connective Tissue Disease Related Articles
Antinuclear AntibodyAntinuclear antibodies (ANAs), unusual antibodies that can bind to certain structures within the nucleus of the cells, are found in patients whose immune system may be predisposed to cause inflammation against their own body tissues. ANAs are indicative of the potential presence of an autoimmune illness.
Henoch-Schonlein PurpuraHenoch-Schonlein Purpura (HSP or anaphylactoid purpura), a type of blood vessel inflammation, results in rash, arthritis, and occasional abdominal cramping. HSP often resolves on its own. Joint pain may be treated with anti-inflammatory and cortisone medications.
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics:
- Dislocation of one or both lenses of the eye
- A protruding or indented breastbone
- Flat feet
- Aortic dilatation
- Dural ectasia (a problem with the sac surrounding the spinal cord)
- Stretch marks
- Collapsed lung
Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Mixed Connective Tissue DiseaseConnective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. Connective tissue diseases that are strictly inheritable include Marfan syndrome and Ehlers-Danlos syndrome. The classic immune-related connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. Treatment is often directed at suppressing the inflammation present in the tissues by using anti-inflammatory and immunosuppressive medications.
Polyarteritis NodosaPolyarteritis nodosa is a rare autoimmune disease characterized by spontaneous inflammation of the arteries of the body. The most common areas of involvement include the muscles, joints, intestines (bowels), nerves, kidneys, and skin. Poor function or pain in any of these organs can be a symptom. Polyarteritis nodosa is most common in middle age persons. Polyarteritis is a serious illness that can be fatal. Treatment is focused on decreasing the inflammation of the arteries by suppressing the immune system.
PolymyositisPolymyositis is a disease of the muscle featuring inflammation of the muscle fibers. It results in weakness of the muscles which can be severe and when associated with skin rash, is referred to as dermatomyositis. Although the cause of this disease is unknown, diagnosis includes physical examination of muscle strength, blood tests for muscle enzymes, electrical tests of muscle and nerves, and conformation by a muscle biopsy. Treatment of polymyositis and dermatomyositis includes high doses of cortisone-related medications, immune suppression, and physical therapy.
Psoriatic ArthritisPsoriatic arthritis is a disease that causes skin and joint inflammation. Symptoms include painful, stiff, and swollen joints, tendinitis, and organ inflammation. Treatment involves anti-inflammatory medications and exercise.
Raynaud's PhenomenonRaynaud's phenomenon is characterized by a pale-blue-red sequence of color changes of the digits, most commonly after exposure to cold. Occurring as a result of spasm of blood vessels, the cause is unknown. Symptoms of Raynaud's phenomenon depend on the severity, frequency, and duration of the blood vessel spasm. Treatments include protection of the digits, medications, and avoiding emotional stresses, smoking, cold temperature, and tools that vibrate the hands.
Reactive ArthritisReactive arthritis is a chronic, systemic rheumatic disease characterized by three conditions, including conjunctivitis, joint inflammation, and genital, urinary, or gastrointestinal system inflammation. Inflammation leads to pain, swelling, warmth, redness, and stiffness of the affected joints. Non-joint areas may experience irritation and pain. Treatment for reactive arthritis depends on which area of the body is affected. Joint inflammation is treated with anti-inflammatory medications.
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Sedimentation RateA sedimentation rate is a common blood test that is used to detect and monitor inflammation in the body. It is performed by measuring the rate at which red blood cells (RBCs) settle in a test tube. The sedimentation rate is simply how far the top of the RBC layer has fallen in one hour, increasing with more inflammation.
Lupus Pictures 1A chronic inflammatory condition caused by an autoimmune disease. See a picture of Systemic Lupus Erythematosus (SLE) and learn more about the health topic.