|CASE BASED REVIEW
|Ahead of print publication
Antisynthetase syndrome with anti-oj antibody: A Case report and review of literature
Nayan Patel Sureja1, Sandeep Nandamuri2
1 Department of Rheumatology and Clinical Immunology, Star Hospitals, Hyderabad, Telangana, India
2 Department of Radiology and Imaging, Star Hospitals, Hyderabad, Telangana, India
|Date of Submission||09-Dec-2020|
|Date of Acceptance||01-Jan-2021|
Nayan Patel Sureja,
Department of Rheumatology and Clinical Immunology, Star Hospitals, Banjara Hills, Hyderabad - 500 034, Telangana
Source of Support: None, Conflict of Interest: None
Antisynthetase syndrome (ASS) is a rare autoimmune disease characterized by the presence of an anti-aminoacyl transfer RNA synthetase antibody with one or more clinical features. The prevalence of anti-OJ antibodies in ASS is 2%–5%. Information regarding the clinical presentation and evolution of these patients is limited. We report a case of ASS with anti-OJ antibody in a 45-year-old female from India, who presented with arthritis and interstitial lung disease (ILD). She was managed with corticosteroids and intravenous cyclophosphamide. We also described the clinical details of 69 previously reported ASS patients with anti-OJ antibody. Data from these patients including our patient showed that isolated ILD was the most common form of presentation (24%) followed by myositis with ILD (16%), isolated arthritis (15%), and isolated myositis (13%). The prevalence of arthritis, myositis, and ILD, at the disease onset, was 33%, 42%, and 70%, respectively, whereas the overall prevalence was 44%, 77%, and 83%, respectively.
Keywords: Antisynthetase syndrome, arthritis, interstitial lung disease, myositis
| Introduction|| |
Antisynthetase syndrome (ASS) is a rare autoimmune disease characterized by the presence of an anti-aminoacyl transfer RNA (tRNA) synthetase (anti-ARS) antibody with clinical features, including arthritis, myositis, interstitial lung disease (ILD), Raynaud's phenomenon (RP), mechanic's hand (MH), and/or fever. The presence of any one of the clinical features satisfies the Connors' criteria for ASS. For Solomen criteria, two major (myositis and ILD) or one major and two minor features (RP, MH, and fever) are required. A total of eight classes of anti-ARS antibodies have been described, of which anti-Jo-1 (anti-histidyl-tRNA synthetase) is the most common and well-described antibody. The non-Jo-1 antibodies include anti-PL-7 (anti-threonyl-tRNA synthetase), anti-PL-12 (anti-alanyl-tRNA synthetase), anti-EJ (anti-glycyl-tRNA synthetase), anti-OJ (anti-isoleucyl-tRNA synthetase), anti-KS (anti-asparaginyl-tRNA synthetase), anti-Ha (anti-tyrosyl-tRNA synthetase), and anti-Zo (anti-phenylalanyl-tRNA synthetase). The prevalence of anti-OJ antibodies in ASS is 2%–5%., Only one case with anti-OJ antibody is reported from India in a cohort of 250 patients with idiopathic inflammatory myositis. Thus, information regarding the clinical presentation and disease evolution in these patients is limited. Here, we report a patient of ASS with anti-OJ antibodies from Southern India.
| Case Report|| |
A 45-year-old female presented with 6 months of symmetrical inflammatory polyarthritis and nonprogressive dyspnea of Medical Research Council (MRC) grade 2. She denied a history of rash, myalgia, muscle weakness, RP, or fever. On examination, multiple joints were tender and swollen, and fine crepitations were heard in both the lungs. Evaluation revealed normal erythrocyte sedimentation rate, C-reactive protein, and creatine phosphokinase. Rheumatoid factor was negative, and anti-cyclic citrullinated peptide antibodies were positive (six times above normal limit). High-resolution computed tomography (HRCT) scan of the chest showed diffuse ground-glass opacities in the bilateral upper and lower lobes with interstitial thickening, fibrosis, and cystic changes, suggestive of ILD [Figure 1a and b]. Forced vital capacity on spirometry was 51%. Antinuclear antibody test showed fine speckled nuclear staining. Line immunoassay for myositis-specific and myositis-associated antibodies detected anti-OJ (1+) and anti-Ro-52 (2+) antibodies. Other anti-extractable nuclear antigen antibodies were negative. With a diagnosis of ASS, she received 1 mg/kg oral corticosteroid along with mycophenolate mofetil (MMF) 2 g/day. MMF was later replaced with monthly infusions of intravenous cyclophosphamide in view of gastrointestinal intolerance. After 2 months of therapy, her respiratory symptoms relatively improved and arthritis subsided.
| Discussion|| |
Although patients with anti-ARS antibodies share common clinical features, there is a degree of heterogeneity within ASS. It is not uncommon for these patients to present with a single clinical feature, thus receiving a different diagnosis (idiopathic ILD and rheumatoid arthritis) in the beginning. The clinical presentation and disease evolution in these patients depend on the type of anti-ARS antibodies.
PubMed search with terms “anti-OJ,” “anti-isoleucyl-tRNA synthetase,” “myositis AND anti-OJ,” and “antisynthetase syndrome AND anti-OJ” identified 69 patients of ASS with anti-OJ antibodies published in English literature, with adequate clinical data.,,,,,,,,,,,,,, Clinical characteristics of these patients including our patient are summarized in [Table 1]. Cavagna et al. described the clinical features of 828 ASS patients from the American and European NEtwork of ASS Collaborative Group Cohort. Eighteen patients (2%) had anti-OJ antibodies. Incomplete ASS (one/two triad features: arthritis, myositis, and ILD) was seen in 17/18 patients, and seven of these developed all triad features at a median of 12 months (interquartile range 3–13) after the disease onset. The prevalence of arthritis, myositis, and ILD, at the disease onset, in these 18 patients was 41%, 50%, and 44%, respectively, whereas it was 33%, 42%, and 70%, when derived from the available data of previously reported cases including our patient [Table 1]. One or more additional clinical features (fever [6%]; MH [39%]); and RP [22%]) were seen in 9/18 (50%) patients. The most common presentation pattern was isolated arthritis in anti-Jo-1; isolated ILD in anti-PL-7, anti-PL-12, and anti-EJ; and isolated myositis in anti-OJ patients. In contrast to this, the data from [Table 1] show that isolated ILD (24%) was the most common presentation followed by myositis with ILD (16%), isolated arthritis (15%), and isolated myositis (13%). The subset of patients presenting with isolated ILD are important to recognize, as early diagnosis of ASS-associated ILD is associated with a better prognosis than idiopathic pulmonary fibrosis.
|Table 1: Clinical characteristics of the patients with anti-OJ antibodies|
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Hamaguchi et al. described 165 patients with anti-ARS antibodies, of which eight (5%) had anti-OJ antibodies. Arthritis was most common in anti-Jo-1 group (58%) and infrequently observed in anti-OJ patients (13%). Patients with anti-Jo-1, anti-PL-7, and anti-EJ had a higher frequency of muscle weakness (78%, 76%, and 55%, respectively) than the anti-OJ group (25%). However, the prevalence of myositis was 100% in 14 patients reported by Nagochi et al. The overall prevalence of arthritis, myositis, and ILD in seventy patients with anti-OJ antibodies was 44%, 77%, and 83%, respectively [Table 1].
The cystic changes on HRCT [Figure 1b] in our patient were unusual for nonspecific interstitial pneumonia pattern and have not been described in ASS patients with anti-OJ antibodies. Such cystic changes usually suggest lymphoid interstitial pneumonia (LIP), a pattern commonly encountered in Sjögren's syndrome (SS). Although SS was ruled out in our patient based on the absence of anti-SSA/SSB antibodies and clinical features, the possibility of LIP cannot be completely excluded without histopathological examination of the lung tissue.
The mechanisms responsible for these differences in clinical features and disease course associated with each of the anti-ARS autoantibodies are largely unknown. Further observations from large number of cases are required to explore the association of anti-OJ antibodies with clinical features of ASS.
Consent for publication
Written informed consent for publication was obtained from the patient.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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