Novel case of anti-synthetase syndrome.

Abstract

Anti-synthetase syndrome (AS) is a heterogeneous group of systemic autoimmune diseases associated with anti-aminoacyl-transfer RNA synthetases. These inflammatory myopathies present with a constellation of symptoms including myositis, arthritis, Raynaud’s phenomenon, and interstitial lung disease (ILD). We present a novel case of a 44-year-old female, who presented with Anti-OJ AS with severe myopathy and rhabdomyolysis without evidence of ILD, which, in our literature review and to the best of our knowledge, has not been previously reported. Furthermore, our patient was initially misdiagnosed, highlighting the paucity of cases and physicians’ unfamiliarity with this disease. After her diagnosis was confirmed, the patient was successfully treated with high-dose steroids and transitioned to azathioprine, and she continues to do well. This case report emphasizes a novel presentation of the rarely diagnosed AS. We also discuss the significant overlap between the inflammatory myopathies and consolidate relevant pathophysiology and current trends in the management of this disease.