A Clinical Case of Anti-synthetase Syndrome: Polysymptomatic and Underdiagnosed

Antisynthetase syndrome (ASSD) encompasses a group of autoimmune diseases associated with the formation of antibodies against aminoacyl-tRNA synthetases (ARS). The medical literature describes a constellation of symptoms, including myositis, arthritis, Raynaud's phenomenon, interstitial lung disease (ILD), fever, skin rash, or "mechanic's hands." We present a case of a 51-year-old man admitted with SAS with a consumptive clinical picture, rhabdomyolysis, ILD, and myositis. Positive anti-PL-7 and anti-nuclear antibodies (ANA) were detected. After diagnostic confirmation, the patient was treated with high doses of methylprednisolone and subsequently with cyclophosphamide, with a good response to immunosuppressive therapy. This clinical case is of great importance given the rarity of the pathology and the diagnostic difficulty of a disease with such a wide range of clinical manifestations.

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Publication Details

Journal
Cureus
Published
2025-11-12
DOI
https://doi.org/10.7759/cureus.96690
Primary Topic
Inflammatory Myopathies and Dermatomyositis
Type
article
Field-Weighted Citation Impact
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article

A Clinical Case of Anti-synthetase Syndrome: Polysymptomatic and Underdiagnosed

Francisco San Martin, Rosa Amorim, Nuno Oliveira
Cureus
Inflammatory Myopathies and Dermatomyositis
article

A Clinical Case of Anti-synthetase Syndrome: Polysymptomatic and Underdiagnosed

Francisco San Martin, Rosa Amorim, Nuno Oliveira
article en

Abstract

Antisynthetase syndrome (ASSD) encompasses a group of autoimmune diseases associated with the formation of antibodies against aminoacyl-tRNA synthetases (ARS). The medical literature describes a constellation of symptoms, including myositis, arthritis, Raynaud's phenomenon, interstitial lung disease (ILD), fever, skin rash, or "mechanic's hands." We present a case of a 51-year-old man admitted with SAS with a consumptive clinical picture, rhabdomyolysis, ILD, and myositis. Positive anti-PL-7 and anti-nuclear antibodies (ANA) were detected. After diagnostic confirmation, the patient was treated with high doses of methylprednisolone and subsequently with cyclophosphamide, with a good response to immunosuppressive therapy. This clinical case is of great importance given the rarity of the pathology and the diagnostic difficulty of a disease with such a wide range of clinical manifestations.

CureusVol. 17(11)
Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
Openalex Percentile: Top 55%
Inflammatory Myopathies and Dermatomyositis
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A Clinical Case of Anti-synthetase Syndrome: Polysymptomatic and Underdiagnosed — Francisco San Martin, Rosa Amorim, et al. · Cureus (2025) | TGRS Research Map | TGRS