Antisynthetase syndrome a rare and challenging diagnosis-case report and literature review
Vol. 30 No. 3 (2022), Case reports
Vol. 30 No. 3 (2022)

Antisynthetase syndrome a rare and challenging diagnosis-case report and literature review

Case reports
https://doi.org/10.35465/30.3.2022.pp73-80
Published October 15, 2022
Vlatko Jovica Karanfilovski
University Clinic of Nephrology, Skopje
O. G. Janev
Z. Nanovic
L. D. Krstikj
Karanfilovski et al. PDF (EN)

Keywords

Antisynthetase syndrome (ASS), interstitial lung disease (ILD), mechanic hands, autoantibody

How to Cite

Karanfilovski, V., Janev, O., Nanovic, Z., & Krstikj, L. (2022). Antisynthetase syndrome a rare and challenging diagnosis-case report and literature review. Rheumatology (Bulgaria), 30(3), 73-80. https://doi.org/10.35465/30.3.2022.pp73-80
ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver

Download Citation

Endnote/Zotero/Mendeley (RIS) BibTeX

Abstract

This case describes a 46-years old woman who initially presented with myopathy and arthropathy (i.e. musculoskeletal manifestations), which delayed the recognition of antisynthetase syndrome (ASS) and contributed for considering the condition as seronegative rheumatoid arthritis for several years. During the next few years, the patient was progressively worsening, with a disability to stand up from a sitting position, gradual onset of exertional dyspnea, difficult-to-control dry cough and thick, hyperkeratotic skin of both hands (mechanic’s hands). This constellation of symptoms was highly suspicious for ASS and additional serological and radiological examinations were done which confirmed the diagnosis of ASS. The need for further detailed investigation when an interstitial lung disease overlaps with a known rheumatoid condition is obligatory, as shown in this case. A multidisciplinary evaluation is highly recommended to evaluate the clinical, serological and radiological findings in each patient suspected for ASS in order to establish early diagnosis and timely management.

https://doi.org/10.35465/30.3.2022.pp73-80
Karanfilovski et al. PDF (EN)

References

  1. Badshah A, Haider I, Pervez S, Humayun M. Antisynthetase syndrome presenting as interstitial lung disease: a case report. J Med Case Rep. 2019 Aug 4; 13(1):241.
  2. Athansios GT. Antisynthetase syndrome. Orphanet encyclopedia. 2001 Nov; 1(2):1-5.
  3. Kumar N, Basetti B, Ramachandran R, Radhan P. Case Report Antisynthetase syndrome and its association with interstitial lung disease- a clinical and radiological review. Int J Med Case Reports. 2020 Jul; 3(3):8-12.
  4. Qureshi, M., Hoey, E., Fletcher, T., & Ahmed, Z. Antisynthetase syndrome: a case report. Quantitative Imaging In Medicine And Surgery, 2015; 6(2), 207-209.
  5. Solomon J, et al. Jornal brasileiro de pneumologia. 2011;37(1):100-109.
  6. Eltelbany M, Huang Y, Sandhu P, Akbaryeh A, Iloh N, Tran HD et al. Anti-synthetase syndrome in a patient with recurrent episodes of pulmonary embolism: a case report. Journal of Community Hospital Internal Medicine Perspectives. 2020; 10(3):255-257.
  7. Chartrand S, Swigris JJ, Peykova L, Chung J, Fischer A. A multidisciplinary evaluation helps identify the antisynthetase syndrome in patients presenting as idiopathic interstitial pneumonia. J Rheumatol. 2016; 43(5):887–892.
  8. Baratella E, Marrocchio C, Cifaldi R, Santagiuliana M, Bozzato AM, Crivelli P, Ruaro B, Salton F, Confalonieri M, Cova MA. Interstitial lung disease in patients with antisynthetase syndrome: a retrospective case series study. Jpn J Radiol. 2021; 39(1):40-46.
  9. DevI HG, PaSHa MM, Padmaja MS, Halappa S. Antisynthetase syndrome: A rare cause for ILD. Journal of Clinical and Diagnostic Research: JCDR. 2016; 10(3):OD08.
  10. Yehudina Y, Trypilka S, Isayeva A. Clinical Puzzles and Decision-Making in Antisynthetase Syndrome. Cureus. 2021;13(6).
  11. Alfraji, N., Mazahir, U., Chaudhri, M. et al. Anti-synthetase syndrome: a rare and challenging diagnosis for bilateral ground-glass opacities—a case report with literature review. BMC Pulm Med 2021; (11): 20-29.
  12. Emad Y, Ragab Y, Abd-Elsalam M, Rasker JJ. Antisynthetase syndrome complicating the course of established case with rheumatoid arthritis: a rare and under-recognized overlapping disease. Reumatologia Clinica. 2020; 16(5):419-22.
  13. Kawano-Dourado L, Costa AN, Carvalho CR, Kairalla RA. Environmental triggers of autoimmunity in anti-synthetase syndrome: the lungs under the spot light. Clin Exp Rheumatol. 2013; 31(6):950-953.
  14. Wuyts WA, Cavazza A, Rossi G, Bonella F, Sverzellati N, Spagnolo P. Differential diagnosis of usual interstitial pneumonia: when is it truly idiopathic? Eur Respir Rev. 2014; 23 (133):308–319.
  15. Debray M.-P., Borie R., Revel M.-P., et al. Interstitial lung disease in anti-synthetase syndrome: initial and follow-up CT findings. European Journal of Radiology. 2015; 81(3):516–523.
  16. Chawla A, Kumar T, Mukherjee P. Antisynthetase syndrome: Initial and follow-up imaging features. Lung India 2018 ; 3: :523-525.
  17. Doyle TJ, Dhillon N, Madan R, Cabral F, Fletcher EA, Koontz DC, Aggarwal R, Osorio JC, Rosas IO, Oddis CV, Dellaripa PF. Rituximab in the Treatment of Interstitial Lung Disease Associated with Antisynthetase Syndrome: A Multicenter Retrospective Case Review. J Rheumatol. 2018 ; 45(6):841-850.
  18. Rojas-Serrano J, Herrera-Bringas D, Mejía M, Rivero H, Mateos-Toledo H, Figueroa JE. Prognostic factors in a cohort of antisynthetase syndrome (ASS): serologic profile is associated with mortality in patients with interstitial lung disease (ILD). Clin Rheumatol. 2015; 34(9):1563-1569.
  19. Marie I, Josse S, Hatron PY, et al. Interstitial lung disease in anti-Jo-1 patients with antisynthetase syndrome: ILD in anti-Jo-1 patients. Arthritis Care Res. 2013; 65(5):800–808.
  20. American Thoracic Society. ATS/ERS international multidisciplinary consensus classification of idiopathic interstitial pneumonia. Am J Respir Crit Care Med. 2002; 165:277-304.
  21. Hwang J-H, Misumi S, Sahin H, Brown KK, Newell JD, Lynch DA. Computed tomographic features of idiopathic fibrosing interstitial pneumonia: comparison with pulmonary fibrosis related to collagen vascular disease. J Comput Assist Tomogr 2009; 33:410–415.
  22. Witt LJ, Curran JJ, Strek ME. The Diagnosis and Treatment of Antisynthetase Syndrome. Clin Pulm Med. 2016; (5):218-226.
  23. Zappa MC, Trequattrini T, Mattioli F, et al. G. Rituximab treatment in a case of antisynthetase syndrome with severe interstitial lung disease and acute respiratory failure. Multidiscip Respir Med. 2011; 6(3):183-188.
  24. Hervier B, Uzunhan Y. Inflammatory Myopathy-Related Interstitial Lung Disease: From Pathophysiology to Treatment. Front Med (Lausanne). 2020 ; 176:326.
  25. Chao R, Das M, Philip C, Efthimiou P. Oxygen-Dependent Patient with Antisynthetase Syndrome Associated Interstitial Lung Disease Responds Promptly to Rituximab with Rapid Pulmonary Function Improvement. Mediterr J Rheumatol 2017; 28(3):153-156.
  26. Fujiko Someya and Naoki Mugii. Limitations to the 6-Minute Walk Test in Dermatomyositis with Interstitial Lung Disease in Comparison with Idiopathic Interstitial Pneumonia Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine 2013:7 1–6.
  27. Antonelli A, Fallahi P, Elia G, Ragusa F, Paparo RS, Mazzi V et al. Effect of the COVID-19 pandemic on patients with systemic rheumatic diseases. The Lancet Rheumatology, 2021; E675-E676.
  28. Theilacker LR, Brandão FS, Goulart FV, Vaz JL, D'Almeida LO, da Fonseca Salgado MC. Antisynthetase Syndrome: two case report and literature review. Rev Bras Reumatol. 2015 ;55(2):177-180.
  29. Meyer A, Lefevre G, Bierry G, et al. In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome. Medicine (Baltimore) 2015; 94(20):523.
  30. V. Mohan, A. Maiti, S.V. Cherian, Mechanic’s hands lesions in antisynthetase syndrome, QJM: An International Journal of Medicine. 2017 ;110(6):395–396.
  31. Kuwana M, Azuma A. Nintedanib: New indication for systemic sclerosis-associated interstitial lung disease. Mod Rheumatol. 2020; 30 (2):225-231.
  32. European Medicines Agency: Ofev (nintedanib). https://www.ema.europa.eu/en/medicines/human/EPAR/ofev (accessed on 28.02.2022).
  33. Flaherty KR, Wells AU, Cottin V, et al. INBUILD Trial Invesfigators. Nintedanib in Progressive Fibrosing Interstitial Lung Diseases. N Engl J Med. 2019; 381:1718-1727.
  34. European Medicines Agency: MabThera (rituximab). https://www.ema.europa.eu/en/medicines/human/EPAR/mabthera.
  35. Murphy SM, Lilleker JB, Helliwell P, Chinoy H. The successful use of tocilizumab as third-line biologic therapy in a case of refractory anti-synthetase syndrome. Rheumatology 2016; 55 (12):2277-2278
  36. Kevin C. Wilson, Ganesh Raghu. The 2015 guidelines for idiopathic pulmonary fibrosis: an important chapter in the evolution of the management of patients with IPF.European Respiratory Journal 2015 ; 46: 883-886.
Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.