What is Antisynthetase Syndrome?
Antisynthetase Syndrome (AS) is a rare genetic disorder characterized by lung disease and scarring (interstitial lung disease), skin and muscle inflammation (dermatomyositis, polymyositis), reduced blood flow (Raynaud’s phenomenon) and autoimmune disorders.
What is the prevalence of AS?
AS occurs in 1 of every 100,000 people, and occurs more frequently in women than in men. It is a rare disease.
How is Antisynthetase Syndrome diagnosed?
Diagnostic criteria for AS is poorly defined, requiring the presence of only one of three antibody proteins targeting a specific enzyme in conjunction with at least one of the aforementioned conditions. For undiagnosed patients, disease progression includes increased production of antigens against aminoacyl-tRNA synthetase, which is crucial for DNA translation and protein production.
Is there any specific gene/pathway in AS that has been identified?
A specific genetic pathway and cause has still not been discovered. The most prevalent antibodies that are under investigation include Anti-Jo-1, -Anti-PL-7 -Anti-PL-12 -Anti-EJ -Anti-OJ -Anti-KS -Anti-Zo -Anti-Ha-YRS and -Anti-SRP.
How is Antisynthetase Syndrome treated?
AS is most commonly treated with immunosuppresive drugs such as glucocorticoids and metabolic inhibitors.
Are there any clinical trials underway for AS?
Yes, NIH is currently recruiting patients to study the environmental risk factors causing AS. The details of the drug trial can be found in here.
How can RareShare be helpful to AS patients and families?
The AS RareShare community has 127 members and is one of the top 10 most active communities on RareShare. There are currently 117 active discussions underway, helping to connect patients, health workers, caregivers and families interested in AS and providing them continual access to community resources.