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Autoimmune Disease
n. (ô′tō-ĭ-myo̅o̅n′ dĭ-zēz′)

      A disease in which impaired function and the destruction of tissue are caused by an immune reaction in which abnormal antibodies are produced and attack the body's own cells and tissues. Autoimmune diseases include a wide variety of disorders, including many disorders of connective tissue, such as systemic lupus erythematosus and rheumatoid arthritis...

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Autoimmune Diseases

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Signs & Symptoms Of
Autoimmune Diseases

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   A wide variety of disorders are classified as autoimmune diseases, ranging from systemic lupus erythematosus to type I diabetes, and many other disorders are suspected of having an autoimmune component. Autoimmune diseases can thus affect a wide variety of bodily tissues and processes, such as the skin, liver, kidneys, or other organs, or the chemical reactions essential to metabolism. Each disease has a characteristic set of auto-antibodies, antibodies that attack normal cells or structures in the body itself. In some of these diseases, the auto-antibodies that are produced actually cause the tissue and organ damage. In other cases, the antibodies are considered to be characteristic markers of the disease but do not cause disease themselves. 

     It is thought that the auto-antibodies are generated by an immunologic reaction with bodily proteins, but the reasons that a specific set of bodily proteins should provoke an immune response that results in disease remain obscure. The genetic makeup of the individual, environmental influences, and infectious disease organisms may all contribute to a person's susceptibility to autoimmune disease. For reasons that are not clear, the prevalence of many autoimmune diseases is much higher in women than in men. Recently there have been dramatic improvements in the diagnosis and treatment of autoimmune disorders. 

      New tests for diagnostically important auto-antibodies have been discovered. Corticosteroids are used to reduce inflammation, and anticancer drugs that kill rapidly dividing cells are used to deplete activated cells in the immune system. The most promising new drugs consist of genetically engineered monoclonal antibodies that block just one part of the immune system. By selectively shutting down the part of the immune system involved in the autoimmune response, the drugs allow some people to see dramatic improvement in their symptoms with minimal side effects.

Definitive Facts About Rare Diseases

  • There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
  • In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", or about 1 in 1,500 people. This definition is essentially like that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.
  • In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people. However, the European Commission on Public Health defines rare diseases as "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them." The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.
  • The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.
  • Rare diseases are usually genetic and are therefore chronic. EURORDIS estimates that at least 80% of them have identified genetic origins. Other rare diseases are the result of infections and allergies or due to degenerative and proliferative causes.
  • Symptoms of some rare diseases may appear at birth or in childhood, whereas others only appear once adulthood is reached.
  • Research publications emphasize rare diseases that are chronic or incurable, although many short-term medical conditions are also rare diseases.

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The modification date for all health, and medical content on this page was last updated, and checked on May 2nd, 2017 PST U.S.A.