Clinical characteristics of patients with anti-EJ antisynthetase syndrome associated interstitial lung disease and literature review

2020 ◽  
Vol 165 ◽  
pp. 105920
Author(s):  
Yin Liu ◽  
Xiaoqing Liu ◽  
Miaomiao Xie ◽  
Zhiyong Chen ◽  
Jian He ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Literature Review ◽  
Lung Disease ◽  
Clinical Characteristics ◽  
Antisynthetase Syndrome

scholarly journals AB0092 ANTISYNTHETASE SYNDROME: CLINICAL PROFILE, SEROLOGIC AND TREATMENTS USED IN A COHORT OF PATIENTS FOLLOWED AT THE VIRGEN MACARENA HOSPITAL

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1075.1-1075
Author(s):  
P. Muñoz Reinoso ◽  
I. García Hernández ◽  
M. Ferrer Galván ◽  
F. J. Toyos Sáenz de Miera ◽  
L. Fernández de la Fuente Bursón ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Biological Therapy ◽  
Diagnostic Delay ◽  
Respiratory Function Tests ◽  
Mean Value ◽  
Frequent Pattern ◽  
Antisynthetase Syndrome ◽  
Antisynthetase Antibodies ◽  
Classical Triad

Background:The antisynthetase syndrome (SAS) is characterized by the presence of antisynthetase antibodies, anti-JO1, PL7 y PL12 are the most common; and the classic triad of myositis, arthritis, and diffuse interstitial lung disease (ILD)1. Most patients present incomplete forms and the severity of the ILD determines the prognosis of the disease2.Objectives:to analyze epidemiological, clinical and serological characteristics and treatments used in a cohort of patients with SAS.Methods:descriptive study of review of medical records. Data were collected from 15 patients with SAS followed in the Rheumatology and Pneumology consultations of the Virgen Macarena Hospital (Seville) in the last 10 years. The analysis was carried out using the R software.Results:15 patients were included, 8 men and 7 women. The median age was 56 years (33-77). Seven patients (47%) used to smoke. Four patients (27%) met the classical triad. All of them presented ILD and 8 patients (53%) had arthritis and / or myositis. Five (33%) had mechanic’s hands and six of them (40%) presented Raynaud. Seven (47%) suffered from dyspnea before the SAS diagnosis. The median diagnostic delay was 1 month (0-43). Seven (47%) patients had anti-JO1, 1 (7%) anti-PL7, 2 (13%) anti-PL12 and 2 (13%) patients anti-Ro52. Radiological patterns detected by HRCT were: 5 (33%) NINE, 4 (37%) NIU and 6 (40%) others. The initial treatment included mostly (66%) glucocorticoids (GC) and one or more cFAME. In maintenance, mycophenolate was used in 7 patients (47%), cyclosporine 5 (33%), cyclophosphamide in 3 cases (20%), azathioprine in 3 patients (20%) and methotrexate in 3 of them (20%). Four (37%) patients required a combination of DMARDs and 2 cases needed (13%) biological therapy, Rituximab and Tocilizumab. Changes in the mean value of the initial respiratory function tests (FVC1 and DLCO1) and during follow-up (FVC2 and DLCO2) were not relevant (FVC1 81.5% [42-110], FVC2 81% [59-115]; DLCO1 83% [10-112], DLCO2 80.5% [47-108]). Nine patients (60%) remained clinically stable and 3 patients (20%) progressed radiologically. Four patients died from ILD progression.Conclusion:In this study, the incomplete diagnosis of SAS predominated. The most detected antibody was anti-JO1. ILD is present in all cases, with NINE being the most frequent pattern so multidisciplinary management is necessary. Most used treatments were GC and FAMES combined, some cases required biological therapy.References:[1]Irazoque F, et al. Epidemiology, etiology and classification. Reumatol Clin. 2009;5:2-5.[2]Johnson C, et al. Clinical and pathologic differences in interstitial lung disease based on antisynthetase antibody type. Respir Med. 2014; 108(10):1542-8.Disclosure of Interests:None declared

scholarly journals Clinicoserological features of antisynthetase syndrome (ASyS)-associated interstitial lung disease presenting to respiratory services: comparison with idiopathic pulmonary fibrosis and ASyS diagnosed in rheumatology services

2021 ◽  
Vol 8 (1) ◽  
pp. e000829
Author(s):  
Shaney L Barratt ◽  
Havra H Adamali ◽  
Caroline Cotton ◽  
Ben Mulhearn ◽  
Hina Iftikhar ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Idiopathic Pulmonary Fibrosis ◽  
Pulmonary Fibrosis ◽  
Lung Disease ◽  
Trna Synthetase ◽  
Musculoskeletal Symptoms ◽  
Antisynthetase Syndrome ◽  
Cytoplasmic Staining ◽  
Phenotypic Differences ◽  
Lung Physiology

IntroductionAntisynthetase syndrome (ASyS) is a rare autoimmune connective tissue disease (CTD), associated with autoantibodies targeting tRNA synthetase enzymes, that can present to respiratory (interstitial lung disease (ILD)) or rheumatology (myositis, inflammatory arthritis and systemic features) services. The therapeutic management of CTD-associated ILD and idiopathic pulmonary fibrosis (IPF) differs widely, thus accurate diagnosis is essential.MethodsWe undertook a retrospective, multicentre observational cohort study designed to (1) evaluate differences between ASyS-associated ILD with IPF, (2) phenotypic differences in patients with ASyS-ILD presenting to respiratory versus rheumatology services, (3) differences in outcomes between ASySassociated with Jo-1 versus non-Jo-1 autoantibodies and (4) compare long-term outcomes between these groups.ResultsWe identified 76 patients with ASyS-ILD and 78 with IPF. Patients with ASyS were younger at presentation (57 vs 77 years, p<0.001) with a female predominance (57% vs 33%, p=0.006) compared with IPF. Cytoplasmic staining on indirect immunofluorescence was a differentiating factor between ASyS and IPF (71% vs 0%, p<0.0001). Patients with ASyS presenting initially to respiratory services (n=52) had a higher prevalence of ASyS non-Jo-1 antibodies and significantly fewer musculoskeletal symptoms/biochemical evidence of myositis, compared with those presenting to rheumatology services (p<0.05), although lung physiology was similar in both groups. There were no differences in high-resolution CT appearances or outcomes in those with Jo-1 versus non-Jo-1 ASyS-ILD.ConclusionsExtended autoimmune serology is needed to evaluate for ASyS autoantibodies in patients presenting with ILD, particularly in younger female patients. Musculoskeletal involvement is common in ASyS (typically Jo-1 autoantibodies) presenting to rheumatology but the burden of ILD is similar to those presenting to respiratory medicine.

Rituximab-Induced Interstitial Lung Disease: Case Report and Literature Review

Pharmacology ◽  
2011 ◽  
Vol 87 (5-6) ◽  
pp. 318-320 ◽  
Author(s):  
Aymen Zayen ◽  
Henda Rais ◽  
Hela Rifi ◽  
Mouna Ouarda ◽  
Mehdi Afrit ◽  
...  
Keyword(s):  
Case Report ◽  
Interstitial Lung Disease ◽  
Literature Review ◽  
Lung Disease ◽  
Disease Case

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

2021 ◽  
Author(s):  
Mei-Xia Huang ◽  
Lu Qin ◽  
Fei-Zhou Zhang ◽  
Lei Wu ◽  
Jia-Hui Yu ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Surfactant Protein ◽  
Chinese Children ◽  
Common Mutation ◽  
Onset Age ◽  
Surfactant Dysfunction

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

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