scholarly journals Anti-SAE1 Antibodies and Dermatomyositis: A Case Series of Three Patients

2020 ◽  
Vol 4 (6) ◽  
pp. 578-584
Author(s):  
Claire Wilson ◽  
Brandon Roman ◽  
Kurt Ashack ◽  
Iris K Aronson
Keyword(s):  
Interstitial Lung Disease ◽  
Cohort Studies ◽  
Lung Disease ◽  
Patient Population ◽  
Case Series ◽  
Response To Treatment ◽  
Laboratory Findings ◽  
Cutaneous Manifestations ◽  
Associated Symptoms ◽  
Life Threatening

To date, few patients with anti-SAE1 dermatomyositis (DM) have been described, and usually in large descriptive cohort studies including all DM subtypes. Thus, it is increasingly important to further describe this rare subtype to solidify cutaneous findings, associated symptoms, and potential therapeutic options. Herein, this case series describes three patients with anti-SAE1 DM with respect to their clinical and laboratory findings, and also their response to treatment. All three patients eventually presented with classic cutaneous manifestations of dermatomyositis, however, Case 2 presented initially with cutaneous manifestations not described in the literature. Furthermore, two patients presented with dysphagia, with Case 2 experiencing a life-threatening dysphagia not typically described in the literature. Two of three patients also presented with early signs of interstitial lung disease. Lastly, cutaneous disease was only responsive to immunosuppressants in one patient. Unfortunately, this observational case-series consisted of only three patients, limiting the generalizability of our results. However, this study provides further support of the recalcitrant nature of this DM subtype, and commonly affected extracutaneous systems including the gastrointestinal and pulmonary systems. Larger studies of this patient population are needed to further confirm our associated findings. 

scholarly journals Interstitial Lung Disease and Myositis in a Patient With Antisynthetase Syndrome and PL12 and Ro52 Co-positivity in a Retired Medical Officer

2020 ◽  
Author(s):  
Michael F Loncharich ◽  
Caleb W Anderson ◽  
Jeannette Collins ◽  
Jess Edison
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Inflammatory Myopathy ◽  
Medical Officer ◽  
Response To Treatment ◽  
High Dose ◽  
Rapid Progression ◽  
Antisynthetase Syndrome ◽  
Disease Phenotype ◽  
Cutaneous Manifestations

Abstract Antisynthetase syndrome (ASS) is an idiopathic inflammatory myopathy characterized by myositis, arthritis, interstitial lung disease (ILD), Raynaud’s phenomenon, and distinctive cutaneous manifestations. Anti-PL12 is a rare myositis-specific autoantibody classically associated with an amyopathic presentation and rapidly progressive ILD. Anti-Ro52 is a myositis-associated antibody that has been postulated to be directly pathogenic in inflammatory myopathy patients. The disease phenotype, course, and response to treatment associated with anti-PL12 and anti-Ro52 co-positivity is not well described. A 58-year-old man with anti-PL12 and anti-Ro52 ASS presented with rapidly progressive ILD and myositis refractory to high-dose prednisone. He ultimately required a dexamethasone burst with intravenous immunoglobulin and mycophenolate mofetil for disease control. Severe and rapidly progressive myositis is infrequently reported in anti-PL12 ASS. This case suggests that concurrent anti-Ro52 positivity predicts a more aggressive disease phenotype and may require more initial immunosuppression. If rapid progression of this disease were to occur in an active duty service member, it would have significant implications for readiness and potentially catastrophic outcomes in the deployed setting. Early identification and treatment of the disease are imperative. The question must also be raised of an occupational exposure from military service.

scholarly journals Patients with monogenic immune dysregulation show improvement in childhood interstitial lung disease following targeted therapy -- a case series and single center approach

2021 ◽  
Author(s):  
Holly Wobma ◽  
Ryan Perkins ◽  
Lisa Bartnikas ◽  
Fatma Dedeoglu ◽  
Janet Chou ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Immune Dysregulation ◽  
Monogenic Disorders ◽  
Life Threatening ◽  
Medical Histories ◽  
Regulatory Disorders ◽  
Childhood Interstitial Lung Disease

In recent years, a number of monogenic disorders have been described that are characterized by immune dysregulation. A subset of these ‘primary immune regulatory disorders’ can cause severe interstitial lung disease, often recognized in late childhood or adolescence. Patients presenting to pulmonary clinic may have long and complex medical histories but lack a unifying genetic diagnosis. It is crucial for pulmonologists to recognize features suggestive of multisystem immune dysregulation and to initiate genetic workup, since targeted therapies based on underlying genetics may halt or even reverese pulmonary disease progression. Through such an approach, our center has been able to diagnose and treat a cohort of patients with interstitial lung disease from gene defects that affect immune regulation. Here we present representative cases related to pathogenic mutations in three distinct pathways and summarize disease manifestations and treatment approaches. We conclude with a discussion of our perspective on the outstanding challenges for diagnosing and managing these complex life-threatening and chronic disorders.

scholarly journals Fast-Onset Diffuse Interstitial Lung Disease in Anti-MDA5 Antibodies-Associated Amyopathic Dermatomyositis

2021 ◽  
Vol 11 (2) ◽  
pp. 235-240
Author(s):  
Houari Aissaoui ◽  
Kinan Drak Alsibai ◽  
Naji Khayath
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Distress Syndrome ◽  
Early Stage ◽  
Immunosuppressive Treatment ◽  
Amyopathic Dermatomyositis ◽  
Pulmonary Manifestations ◽  
Life Threatening ◽  
Adequate Management ◽  
Chest Ct Scan

Anti-MDA5 antibodies-associated amyopathic dermatomyositisis a rare autoimmune disease that involve polyarthritis, cutaneous and pulmonary manifestations. The development of rapidly progressing interstitial lung disease is a life-threatening complication. We report the case of a 45-year-old woman without medical history, who was addressed to the Pulmonary Department for a polyarthritis with dry cough and hypoxemic dyspnea. Initially there was neither cutaneous manifestation nor interstitial lung disease on chest CT scan. After a few days, the patient developed fatal acute respiratory failure with diffuse ground glass opacities. Identification of anti-MDA5 antibodies allowed establishing diagnosis, despite the fact that the first immunological assessment was negative. Corticosteroid bolus of 1 g for three days and immunosuppressive treatment by cyclophosphamide was only initiated at the acute respiratory distress syndrome stage. Given the rapidly unfavorable prognosis of this entity of amyopathic dermatomyositis, the testing for anti-MDA5 antibodies should be recommended in case of progressive pulmonary symptoms associated with joint signs in order to identify this disease at an early stage and to begin rapid and adequate management.

scholarly journals POS0645 RITUXIMAB THERAPY IN THE INTERSTITIAL LUNG DISEASE OF RHEUMATOID ARTHRITIS: A SYSTEMATIC REVIEW

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 560.3-561
Author(s):  
E. F. Vicente-Rabaneda ◽  
J. De la Macorra ◽  
J. P. Baldivieso ◽  
F. Gutiérrez-Rodríguez ◽  
A. García-Vadillo ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Interstitial Lung Disease ◽  
Lung Function ◽  
Adverse Events ◽  
Lung Disease ◽  
Statistical Significance ◽  
Connective Tissue Diseases ◽  
Case Series ◽  
Original Research ◽  
Case Control Studies

Background:Interstitial lung disease (ILD) is a severe manifestation of rheumatoid arthritis (RA), linked to increased mortality. There is still no consensus on the best therapeutic strategy as there aren’t yet randomized controlled trials.Objectives:To analyze the available scientific evidence on the efficacy and safety of rituximab (RTX) treatment of interstitial lung disease (ILD) associated with rheumatoid arthritis (RA).Methods:A systematic search was carried out in PubMed until April 2020 following the PRISMA recommendations. Studies were selected according to the following inclusion criteria: (1) original research, including case series, case/control studies, cohort studies, and clinical trials; (2) population with RA and associated ILD, either monographically or together with other connective tissue diseases (CTD), provided that individualized data on patients with RA were provided; (3) patients treated with RTX; (4) objective and quantifiable results on the evolution of ILD after treatment with available data of FVC, DLCO and/or HRCT.Results:Of the 64 papers identified, 9 articles were selected. The studies showed great heterogeneity in design, both in the sample selection criteria and in the objectives of the analysis. Most were observational, retrospective (n = 6) or prospective (n = 2) studies, with only one open prospective experimental study. Those focused on RA predominated, but 3 of them also included patients with other CTDs. The mean age of the patients in the different studies ranged between 52 and 70 years, predominantly women. 40-79% had a history of smoking and were mostly positive for rheumatoid factor (83-100%) and anti-CCP (82-100%). The most frequent radiological patterns were NSIP, UIP and undefined. The outcome measures were diverse: changes in respiratory function tests (LTF) and HRCT, incidence of pulmonary dysfunction, mortality rates, effect on glucocorticoid deprivation, delay in inclusion in the lung transplant list and/or serious adverse events. The initiation of RTX was motivated by pulmonary and/or joint pathology, in patients with failure to other synthetic or biological DMARDs. A total of 393 treatment cycles were collected in 114 patients, with a mean of 3.45 cycles per patient. The RTX regimen was 2 infusions of 1g 2 weeks apart in all patients, except for 1 who received the lymphoma-like regimen. With regard to the efficacy of the treatment with RTX, improvement and especially stabilization of HRCT and LFT predominated, with numerically greater improvement for DLCO than for FVC. There was also a favorable trend in the evolution of patients treated with RTX compared to controls, although it did not reach statistical significance, and a lower risk of deterioration of lung function in patients treated with RTX versus those who had received other DMARDs. The mortality rate found at 5 years was lower than that previously described for the disease and half for the patients treated with RTX compared to those treated with anti-TNF. The adverse events described in the studies did not show additional safety alerts to those already described for RTX.Conclusion:RTX seems to be postulated as a promising therapy for patients with ILD associated with RA, showing a stabilizing effect on the lung function, with an acceptable safety profile. However, further research of higher methodological quality prospective studies is needed to confirm these favorable preliminary results.Disclosure of Interests:None declared

scholarly journals Effectiveness and safety of tocilizumab for the treatment of refractory systemic sclerosis associated interstitial lung disease: a case series

2018 ◽  
Vol 78 (11) ◽  
pp. e123-e123 ◽  
Author(s):  
Javier Narváez ◽  
Judit LLuch ◽  
Juan José Alegre Sancho ◽  
Maria Molina-Molina ◽  
Joan Miquel Nolla ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Case Series
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