Journal of Medical Case Reports (Jul 2023)

Unusual presentation of antisynthetase syndrome: a case series and review of the literature

  • Juan Estrada-Maya,
  • María de los Ángeles Cuellar,
  • Lina Patricia Vargas,
  • Carmen Cecilia Gómez,
  • Andrés Bonilla,
  • Pedro Felipe Burgos,
  • Sergio Alejandro Bedoya,
  • María Valentina Oliver,
  • Nicolás Molano,
  • Juan Sebastián Linares

DOI
https://doi.org/10.1186/s13256-023-04040-7
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 7

Abstract

Read online

Abstract Background Antisynthetase syndrome is an inflammatory myopathy that is characterized by the presence of anti-aminoacyl-tRNA synthetase antibodies. Only 30% of those who suffer from the disease can be identified. We present three Hispanic cases of antisynthetase syndrome with unusual clinical pictures were extended myositis panel results enable disease diagnosis and treatment. Case presentation A 57-year-old Hispanic/Latino female with an erythematous scaly plaque, unresolved fever and non-immune haemolytic anaemia in whom inpatient work-up for fever of unknown origin was positive for anti-PL12 positive myositis extended panel. A 72-year-old Hispanic/Latino male with amyopathic weakness syndrome and mechanic hands in whom impatient work-up was relevant for proximal muscle uptake and anti-PM75 and AntiPL-12 myositis extended panel. And a 67-year-old Hispanic/Latino male with progressive interstitial lung disease and unresolved fever ended in myositis extended panel positive for antiPL-7. After systemic immunosuppressor treatment, patients had favourable clinical and paraclinical responses during outpatient follow-up. Conclusions The high variability of the antisynthetase syndrome in these cases demonstrates the importance of identification through an expanded panel and highlights the probability that this is a variable disease and that we need to include emerging molecular tests to promote the timely treatment of patients.

Keywords