Clinical experience in anti-synthetase syndrome: a monocentric retrospective analytical study

Abstract

ABSTRACT OBJECTIVES: Anti-synthetase syndrome (ASS) is a rare autoimmune disorder combining autoantibodies and specific clinical manifestations. One of the particularities of ASS is the pleiomorphic radiological presentation seen at the initial work-up. Evaluating treatment response can also be challenging and requires specific clinical, functional, biological and radiological monitoring. For these reasons, it is fundamental to identify specific radiological and clinical features of ASS for improved diagnosis and therapeutic approaches. METHODS: We retrospectively studied all patients suffering from ASS in the CHU of Liège from 2008 to 2019. We analysed the clinical features, pulmonary function tests (PFTs), computed tomography (CT), and longitudinal evolution with regard to patient treatment. RESULTS: In the whole cohort of 30 patients, we identified 19 with anti-JO1 antibodies, 5 with anti-PL12 antibodies and 6 with anti-PL7 antibodies. The sex ratio was slightly in favour of males. Interestingly, PL-12 syndrome was more likely to be present in younger patients than those associated with other antibodies. Overall, 77% of the overall cohort exhibited specific pulmonary involvement without any significant difference with regard to the severity assessed by PFT at diagnosis. In contrast, the radiological presentation was pleomorphic for anti-JO1 syndrome, and anti-PL12 syndrome exhibited mainly ground-glass opacities (GGOs) and reticular abnormalities, while those with anti-PL7 antibodies showed reticulations and bronchiectasis. Longitudinal CT analysis mainly showed a reduction in consolidations and GGOs with specific therapies. CONCLUSION: In our single-centre retrospective study, we found different profiles for different autoantibodies according to age and radiological appearance.