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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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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
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author 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
author_facet 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
author_sort Estrada-Maya, Juan
collection PubMed
description 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.
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spelling pubmed-103871982023-07-31 Unusual presentation of antisynthetase syndrome: a case series and review of the literature 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 J Med Case Rep Case Report 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. BioMed Central 2023-07-30 /pmc/articles/PMC10387198/ /pubmed/37516893 http://dx.doi.org/10.1186/s13256-023-04040-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
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
Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title_full Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title_fullStr Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title_full_unstemmed Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title_short Unusual presentation of antisynthetase syndrome: a case series and review of the literature
title_sort unusual presentation of antisynthetase syndrome: a case series and review of the literature
topic Case Report
url 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
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