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

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 pictur...

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Detalles Bibliográficos
Autores principales: Estrada-Maya, Juan, de los Ángeles Cuellar, María, Vargas, Lina Patricia, Gómez, Carmen Cecilia, Bonilla, Andrés, Burgos, Pedro Felipe, Bedoya, Sergio Alejandro, Oliver, María Valentina, Molano, Nicolás, Linares, Juan Sebastián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387198/
https://www.ncbi.nlm.nih.gov/pubmed/37516893
http://dx.doi.org/10.1186/s13256-023-04040-7
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13256-023-04040-7.