Diagnosis of Antisynthetase syndrome

Diagnosis

A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and assist with determining treatment. This testing varies based on the signs and symptoms present in each person, but may include:^{[1, 3]}

• Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase
• Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome
• High resolution computed tomography (HRCT) of the lungs
• Electromyography (EMG)
• Muscle biopsy
• Pulmonary function testing
• Magnetic resonance imaging (MRI) of affected muscles
• Evaluation of swallowing difficulties and aspiration risk
• Lung biopsy

Not all patients with antisynthetase antibodies or even those classified as having the antisynthetase syndrome have all manifestations of this syndrome. The syndrome is generally considered present in patients with an antisynthetase antibody plus two of the following features: interstitial lung disease (ILD), inflammatory myopathy, and inflammatory polyarthritis. Also, patients with antisynthetase antibodies generally have more severe myositis and ILD compared with similar conditions.^[5]

Last updated: 5/26/2016

Source: GARD (NIH)¹

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References

1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 735/ antisynthetase-syndrome

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