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Diseases

Genetic and Rare Diseases Information Center (GARD)

Antisynthetase syndrome


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Your Question

I have been recently diagnosed with antisynthetase syndrome, acute interstitial lung disease, muscle weakness, skin involvement, scleroderma, and dermatomyositis. Could you please provide me with information on antisynthetase syndrome?  I am also interested in learning about prognosis, treatment, and clinical trials.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is antisynthetase syndrome?

Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.[1][2][3]
Last updated: 8/10/2015

What are the signs and symptoms of antisynthetase syndrome?

The signs and symptoms of antisynthetase syndrome vary but may include:[4][1][2]

Some studies suggest that affected people may be at an increased risk for various types of cancer, as well.[1]

Last updated: 8/9/2015

What causes antisynthetase syndrome?

The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known.[1][2]
Last updated: 8/9/2015

What is the long-term outlook for people with antisynthetase syndrome?

The long-term outlook (prognosis) for people with antisynthetase syndrome varies based on the severity of the condition and the associated signs and symptoms. Although the condition is considered chronic and often requires long-term treatment, those with muscle involvement as the only symptom are generally very responsive to treatment with corticosteroids and/or immunosuppressive medications. When the lungs are affected, the severity and type of lung condition generally determines the prognosis. For example, patients with a progressive course of interstitial lung disease generally have a worse prognosis than those with a nonprogressive course.[1][2][3]

Older age at onset (greater than 60 years), presence of malignancy, and a negative antibody test are all associated with a worse prognosis.[1][3]
Last updated: 8/10/2015

What treatment is available for antisynthetase syndrome?

Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.[1][3]
Last updated: 8/10/2015

Are there any clinical trials for antisynthetase syndrome?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, several clinical trials are identified as enrolling individuals with antisynthetase syndrome. To find these trials, click on the link above. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to contact PRPL and provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov

You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Last updated: 8/10/2015

References
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.