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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 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.
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.
ArthritisArthritis is inflammation of one or more joints. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of arthritis, including osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout, and pseudogout.
Fatigue can be described in various ways. Sometimes fatigue is described as feeling a lack of energy and motivation (both mental and physical). The causes of fatigue are generally related to a variety of conditions or diseases, for example, anemia, mono, medications, sleep problems, cancer, anxiety, heart disease, and drug abuse.Treatment of fatigue is generally directed toward the condition or disease that is causing the fatigue.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Peripheral Vascular Disease
Peripheral vascular disease (PVD) refers to diseases of the blood vessels (arteries and veins) located outside the heart and brain. While there are many causes of peripheral vascular disease, doctors commonly use the term peripheral vascular disease to refer to peripheral artery disease (peripheral arterial disease, PAD), a condition that develops when the arteries that supply blood to the internal organs, arms, and legs become completely or partially blocked as a result of atherosclerosis. Peripheral artery disease symptoms include intermittent leg pain while walking, leg pain at rest, numbness in the legs or feet, and poor wound healing in the legs or feet.
Treatment for peripheral artery disease include lifestyle measures, medication, angioplasty, and surgery.
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.
Rheumatoid ArthritisRheumatoid arthritis (RA) is an autoimmune disease that causes chronic inflammation of the joints, the tissue around the joints, as well as other organs in the body. Because it can affect multiple other organs of the body, rheumatoid arthritis is referred to as a systemic illness and is sometimes called rheumatoid disease.
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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.
Sjogren's SyndromeSjögren's syndrome is an autoimmune disease involving the abnormal production of extra antibodies that attack the glands and connective tissue. Sjögren's syndrome with gland inflammation (resulting dry eyes and mouth, etc.) that is not associated with another connective tissue disease is referred to as primary Sjögren's syndrome. Sjögren's syndrome that is also associated with a connective tissue disease, such as rheumatoid arthritis, systemic lupus erythematosus, or scleroderma, is referred to as secondary Sjögren's syndrome. Though there is no cure for Sjögren's syndrome, the symptoms may be treated by using lubricating eye ointments, drinking plenty of water, humidifying the air, and using glycerin swabs. Medications are also available to treat dry eye and dry mouth.
Systemic LupusSystemic lupus erythematosus is a condition characterized by chronic inflammation of body tissues caused by autoimmune disease. Lupus can cause disease of the skin, heart, lungs, kidneys, joints, and nervous system. When only the skin is involved, the condition is called discoid lupus. When internal organs are involved, the condition is called systemic lupus erythematosus (SLE).
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