Vol 8, No 2 (2022)
Review paper
Published online: 2022-06-23

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Difficulties in the diagnosis of antisynthetase syndrome

Aleksandra Opinc1, Joanna Makowska1
Rheumatology Forum 2022;8(2):84-90.

Abstract

Antisynthetase syndrome is a rare subtype of idiopathic inflammatory myopathies, characterised by co-ocurrence of myositis, arthritis, interstitial lung disease, Raynaud phenomenon, fever and mechanic’s hands. Symptoms frequently appear asynchronously. The presence of antisynthetase antibodies in a patient’s serum is considered an immunological hallmark of the disease. Arriving at a proper diagnosis of antisynthetase syndrome remains a considerable challenge, and the diagnosis is often delayed. The manuscript discusses possible obstacles in the diagnostic process of antisynthetase syndrome.

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References

  1. Anquetil C, Benveniste O. Antisynthetase syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=81 (6 February 2022).
  2. Lilleker JB, Vencovsky J, Wang G, et al. all EuroMyositis contributors. The EuroMyositis registry: an international collaborative tool to facilitate myositis research. Ann Rheum Dis. 2018; 77(1): 30–39.
  3. Opinc AH, Makowska JS. Antisynthetase syndrome - much more than just a myopathy. Semin Arthritis Rheum. 2021; 51(1): 72–83.
  4. Ghirardello A, Doria A. New insights in myositis-specific autoantibodies. Curr Opin Rheumatol. 2018; 30(6): 614–622.
  5. Gelpí C, Kanterewicz E, Gratacos J, et al. Coexistence of two antisynthetases in a patient with the antisynthetase syndrome. Arthritis Rheum. 1996; 39(4): 692–697.
  6. Bottai M, Tjärnlund A, Santoni G, et al. International Myositis Classification Criteria Project consortium, the Euromyositis register and the Juvenile Dermatomyositis Cohort Biomarker Study and Repository (JDRG) (UK and Ireland). EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report. RMD Open. 2017; 3(2): e000507.
  7. Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med. 1975; 292(7): 344–347.
  8. Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med. 1975; 292(8): 403–407.
  9. Greco M, García de Yébenes MJ, Alarcón I, et al. Idiopathic inflammatory myopathies and antisynthetase syndrome: contribution of antisynthetase antibodies to improve current classification criteria. Ann Rheum Dis. 2019; 78(9): 1291–1292.
  10. Solomon J, Swigris JJ, Brown KK. Myositis-related interstitial lung disease and antisynthetase syndrome. J Bras Pneumol. 2011; 37(1): 100–109.
  11. Connors G, Christopher-Stine L, Oddis C, et al. Interstitial Lung Disease Associated With the Idiopathic Inflammatory Myopathies. Chest. 2010; 138(6): 1464–1474.
  12. Cavagna L, Castañeda S, Sciré C, et al. AENEAS Collaborative Group Members. Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria. Ann Rheum Dis. 2018; 77(8): e50.
  13. Castañeda S, Cavagna L, González-Gay MA. New Criteria Needed for Antisynthetase Syndrome. JAMA Neurol. 2018; 75(2): 258–259.
  14. Cavagna L, Trallero-Araguás E, Meloni F, et al. Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course. J Clin Med. 2019; 8(11).
  15. Cavagna L, Nuño L, Scirè CA, et al. AENEAS (American, European NEtwork of Antisynthetase Syndrome) collaborative group.. Clinical Spectrum Time Course in Anti Jo-1 Positive Antisynthetase Syndrome: Results From an International Retrospective Multicenter Study. Medicine (Baltimore). 2015; 94(32): e1144.
  16. Masiak A, Marzec M, Kulczycka J, et al. The clinical phenotype associated with antisynthetase autoantibodies. Reumatologia. 2020; 58(1): 4–8.
  17. Fischer K. Autoprzeciwciała w codzienne praktyce klinicznej. Rheumatology Forum. 2016; 2(1): 39–50.
  18. Baccaro AC, Behrens Pinto GL, Carboni RCS, et al. The clinical manifestations at the onset of antisynthetase syndrome: A chameleon with multiple faces. Reumatismo. 2020; 72(2): 86–92.
  19. Trallero-Araguás E, Grau-Junyent JM, Labirua-Iturburu A, et al. IIM Study Group and Autoimmune Diseases Study Group (GEAS) of the Spanish Society of Internal Medicine (SEMI). Clinical manifestations and long-term outcome of anti-Jo1 antisynthetase patients in a large cohort of Spanish patients from the GEAS-IIM group. Semin Arthritis Rheum. 2016; 46(2): 225–231.
  20. Lefèvre G, Meyer A, Launay D, et al. Club Rhumatismes, Inflammation. Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients. Rheumatology (Oxford). 2015; 54(5): 927–932.
  21. González-Gay MA, Montecucco C, Selva-O'Callaghan A, et al. AENEAS (American and European NEtwork of Antisynthetase Syndrome) collaborative group.. Timing of onset affects arthritis presentation pattern in antisyntethase syndrome. Clin Exp Rheumatol. 2018; 36(1): 44–49.
  22. Cavagna L, Nuño L, Scirè CA, et al. AENEAS (American and European NEtwork of Antisynthetase Syndrome) Collaborative Group. Serum Jo-1 Autoantibody and Isolated Arthritis in the Antisynthetase Syndrome: Review of the Literature and Report of the Experience of AENEAS Collaborative Group. Clin Rev Allergy Immunol. 2017; 52(1): 71–80.
  23. Ide V, Bossuyt X, Blockmans D, et al. Prevalence and clinical correlates of rheumatoid factor and anticitrullinated protein antibodies in patients with idiopathic inflammatory myopathy. RMD Open. 2018; 4(2): e000661.
  24. Meyer A, Lefevre G, Bierry G, et al. Club Rhumatismes et Inflammation. In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome. Medicine (Baltimore). 2015; 94(20): e523.
  25. Fischer A, Antoniou KM, Brown KK, et al. “ERS/ATS Task Force on Undifferentiated Forms of CTD-ILD”. An official European Respiratory Society/American Thoracic Society research statement: interstitial pneumonia with autoimmune features. Eur Respir J. 2015; 46(4): 976–987.
  26. Graney BA, Fischer A. Interstitial Pneumonia with Autoimmune Features. Ann Am Thorac Soc. 2019; 16(5): 525–533.
  27. Levi Y, Israeli-Shani L, Kuchuk M, et al. Rheumatological Assessment Is Important for Interstitial Lung Disease Diagnosis. J Rheumatol. 2018; 45(11): 1509–1514.