Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Anti-Synthetase Syndrome (ASS) is a rare autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, fever, Raynaud's phenomenon, mechanic's hand, and inflammatory polyarthritis in the setting of antibodies against amino acyl-transfer RNA synthetases, with anti-Jo-1 antibody being the most common. It can sometimes present as interstitial lung disease without any other expression of the syndrome. Clinical and radiological features can be similar to atypical pneumonia and could be a challenge to diagnose at an early stage. Prognosis is generally poor, especially when there is associated ILD and delay in diagnosis can lead to increase in morbidity due to progression of pulmonary involvement. We report a patient of ASS presenting with ILD, diagnosed early and treated successfully with immunosupression.
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PMID:Antisynthetase Syndrome: A Rare Cause for ILD. 2713 16

Antisynthetase syndrome (anti-SS) is a rare systemic autoimmune disorder characterized by myositis, Raynaud's phenomenon, fever, interstitial lung disease (ILD), polyarthralgia, and presence of antibodies against tRNA synthetase, especially anti-Jo-1. Rarely, anti-SS can present as isolated ILD, with clinical features very similar to atypical pneumonia, making diagnosis extremely challenging. We report a patient originally diagnosed with atypical pneumonia, requiring oxygen supplementation, who failed treatment with antibiotics. Radiological findings were suspicious for ILD and a comprehensive rheumatological work-up revealed the diagnosis of anti-SS associated ILD. Prompt treatment was initiated with steroids and rituximab. Follow up pulmonary function tests showed an improvement in her diffusing capacity of the lung for carbon monoxide and forced vital capacity allowing her to resume her daily life without supplemental oxygen.
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PMID:Oxygen-Dependent Patient with Antisynthetase Syndrome Associated Interstitial Lung Disease Responds Promptly to Rituximab with Rapid Pulmonary Function Improvement. 3218 74