Features Of Antisynthetase Syndrome Research Articles

Atypical Presentation of Antisynthetase Syndrome: A Case Report

ABSTRACT Antisynthetase syndrome is characterized by autoantibodies against one of many aminoacyl transfer RNA synthetases. The clinical features include interstitial lung disease (ILD), non-erosive arthritis, Raynaud’s phenomenon, myositis, unexplained fever, and/or mechanic’s hands. There is higher incidence of ILD compared to polymyositis or dermatomyositis. Antisynthetase syndrome associated with Pl-7 and Pl-12 antibodies is rare and accounts for less than 10% of all cases. We present a case of 63-year-old lady who presented with only polymyositis without any ILD or other features of antisynthetase syndrome and was positive for anti Pl-7 and anti Pl-12 antibodies.

ANTI-PL 12 POSITIVE ANTISYNTHETASE SYNDROME PRESENTING AS SEVERE ILD- A CASE REPORT

Anti-synthetase syndrome (ASS) is a rare systemic autoimmune disease characterized by a combination of ILD , myopathy, fever and polyarthralgia and Raynaud's phenomenon and mechanic's hand . Hallmark of ASS is the presence of antibodies against aminoacyl tRNA synthetase enzyme. The most commonly encountered autoantibody is anti-JO 1 (around 80%), less commonly encountered are anti pl 7, anti-PL 12 anti E J. (1) Here we report the case of a 45 year old lady presenting with features of ASS where anti PL 12 was positive but with a negative anti JO 1.

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

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.

Clinical features of anti-synthetase syndrome associated interstitial lung disease: a retrospective cohort in China

BackgroundAnti-synthetase syndrome (ASSD) is a chronic autoimmune condition characterized by antibodies directed against an aminoacycl transfer RNA synthetase (ARS) along with a group of clinical features including the classical clinical triad: inflammatory myopathy, arthritis, and interstitial lung disease (ILD). ASSD is highly heterogenous due to different organ involvement, and ILD is the main cause of mortality and function loss, which presents as different patterns when diagnosed. We designed this retrospective cohort to describe the clinical features and disease behaviour of ASSD associated ILD.MethodsData of 108 cases of ASSD associated ILD were retrospectively collected in Beijing Chaoyang Hospital from December 2017 to March 2019. Data were obtained from the Electronic Medical Record system. Patients were divided into 5 groups according to distinct aminoacyl tRNA synthetase (ARS) antibodies.ResultsOverall, 108 consecutive patients were recruited. 33 were JO-1 positive, 30 were PL-7 positive, 23 were EJ positive, 13 were PL-12 positive and 9 were OJ positive. The JO-1 (+) group had a significant higher rate of mechanic’s hand (57.6%) than other 4 groups. Polymyositis/dermatomyositis (PM/DM) was diagnosed in 25 (23.1%) patients and no difference was observed among the 5 groups. The PL-7 (+) group had a higher frequency of UIP pattern (13.3%) than the other 4 groups but the difference was not significant, and the EJ (+) group had the most frequent OP pattern (78.2%), which was significantly higher than the PL-7 (+) (P < 0.001) and PL-12 (+) groups (P = 0.025). The median follow-up time was 10.7 months, during which no patients died. All received prednisone treatment, with or without immunosuppressants. At the 6-month follow-up, 96.3% of all patients (104/108) had a positive response to therapy, the JO-1 (+) and EJ (+) groups had a significantly higher improvement of forced vital capacity than the other 3 groups (P < 0.05), and the PL-7 group had the lowest FVC improvement (P < 0.05). The JO-1 (+) group and EJ (+) group had significantly higher anti-Ro-52 positive occurrence than the other 3 groups (P < 0.05).ConclusionAnti PL-7 antibody had the same frequency as anti-JO-1 in ASSD-ILD, in which the ILD pattern was different with distinct anti-ARS antibodies. Most ASSD-ILD had a positive response to steroid therapies, with or without immunosuppressants. The PL-7 (+) group had the highest occurrence of UIP pattern, and a significantly lower response to therapy.

Painful myositis in the anti-synthetase syndrome with anti-PL12 antibodies

The idiopathic inflammatory myopathies (IIMs) are characterized by muscle weakness, electromyography (EMG), histological and biochemical features of muscle inflammation. Their classification is evolving due to the myositis-associated autoantibody panel. Anti-aminoacyl-tRNA synthetase (ARS) antibodies are detected in 25-30% patients and define the anti-synthetase syndrome (ASS), a spectrum of interstitial lung disease (ILD), arthritis, fever, Raynaud’s phenomenon and mechanic’s hands. Anti-Jo1 antibodies are most common (20%), whereas anti-PL12 antibodies (alanyl-tRNA synthetase) occur in <3% cases. We report a 58-year-old male with IIM associated with anti-PL12 antibodies, who presented with a three-week history of severe widespread muscle pain, without overt muscle weakness. He also reported polyarthralgia, exertional dyspnoea, dry cough and weight loss. Examination revealed low-grade pyrexia, bi-basal crepitations and exquisitely tender muscles. Notably, there was no proximal muscle weakness or neurological deficit. Investigations revealed marked acute phase response (CRP 121 mg/l, ESR 79 mm/hr), polyclonal hypergammaglobulinaemia and raised ALT 276 U/l (0-40). Serology demonstrated high-titre anti-nuclear antibodies (1:1280, speckled). Serum Western blotting revealed anti-PL12 antibodies. No other autoantibodies were detected. Creatinine kinase was elevated 936 U/l (0-200), EMG was consistent with myositis. MRI thighs demonstrated high signal within the semitendinosis muscle. Muscle histology confirmed a florid inflammatory myopathy with disruption, oedema and considerable macrophage and lymphocytic infiltrate of perimysial connective tissue – typical features of ASS. Spirometry was restrictive with reduced corrected gas transfer. CT chest showed non-specific interstitial pneumonia. Prednisolone 60mg daily, resulted in improvement of dyspnoea and normalisation of CRP and CK. Significant muscle pain (requiring morphine) was steroid-responsive, but only to high doses, with recurrence on dose reduction. Pulsed cyclophosphamide was commenced, with improvement in muscle pain after the first dose. Severe muscular pain and tenderness in the absence of weakness, is atypical of ASS and has not been previously reported. Anti-PL12 antibodies are rare, therefore their associated clinical features are not well-described, unlike the Jo-1 syndrome. ILD is common, usually precedes muscle involvement and may occur in isolation. Previous reports suggest that muscle involvement is uncommon and mild (often subclinical). Further reports and prospective studies will help refine the clinical phenotype of anti-PL12 antibody-positive ASS subtype.

Anti-synthetase syndrome in ANA and anti-Jo-1 negative patients presenting with idiopathic interstitial pneumonia

To describe the clinical features of patients presenting with "idiopathic" interstitial pneumonia that were diagnosed with anti-synthetase syndrome based on clinical features and positive anti-PL-7 or PL-12 antibodies. Over a 24-month period, we evaluated 37 patients who presented with clinical features of anti-synthetase (AS) syndrome, negative anti-Jo-1 antibodies, and who were assessed for other anti-tRNA synthetase (anti-tRS) antibodies. All data were abstracted from the medical record. Nine (24%) were confirmed to have non-anti-Jo-1 positive AS syndrome based on clinical features and the presence of other anti-tRS antibodies (seven with anti-PL-7, two with anti-PL-12 antibodies). All presented with dyspnea as the initial symptom and with ILD as the first manifestation. Elevated CPK was identified in three patients but only two had muscle weakness. Pulmonary physiology revealed restriction (forced vital capacity 60% of predicted) and impaired gas transfer (diffusing capacity for carbon monoxide 40% of predicted). All had similar findings on thoracic HRCT scans, with basilar predominance of abnormalities and patterns suggestive of non-specific interstitial pneumonia and organizing pneumonia. Immunomodulatory therapies were used to treat the ILD-responses were variable, but some subjects clearly improved. Anti-PL-7 and PL-12 antibodies may be more common among patients presenting with "idiopathic" interstitial pneumonia than formerly considered and should be checked in patients with features of AS syndrome despite a negative screen for anti-nuclear or anti-Jo-1 antibodies. Further research is needed to advance understanding of anti-PL-7 or anti-PL-12-positive AS syndrome, including its prognosis and optimal approaches to therapy.