Bedeutung von Myositis-spezifischen Autoantikörpern bei der Dermatomyositis und Lungenbeteiligung

2021 ◽  
Vol 3 (1) ◽  
pp. 17-18
Author(s):  
Michael Sticherling
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Subcutaneous Emphysema ◽  
Poor Prognosis ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Imaging Features ◽  
Amyopathic Dermatomyositis ◽  
Serological Tests ◽  
Medical University

<b>Objective:</b> To investigate the clinical characteristics of patients positive for anti-melanoma differentiation-associated gene 5 (MDA5) antibodies, and to analyse the potential pathogenesis of anti-MDA5 antibodies. <b>Methods:</b> The clinical manifestations, serological tests, imaging features, treatments, and prognoses of 32 anti-MDA5 antibody-positive patients diagnosed in the Rheumatology and Immunology Department of the Second Affiliated Hospital of Chongqing Medical University from September 2015 to August 2018 were analysed. <b>Results:</b> Of the 32 anti-MDA5 antibody-positive patients, eleven patients were clinically diagnosed with interstitial pneumonia with autoimmune features (IPAF), ten patients were diagnosed with clinically amyopathic dermatomyositis (CADM), six patients were diagnosed with dermatomyositis (DM) and five patients were diagnosed with anti-synthetase syndrome (ASS). Thirty patients had various degrees of pulmonary interstitial changes. The incidence of mortality, subcutaneous emphysema, hoarseness and dysphagia in patients who were positive for both anti-MDA5 and anti-Ro52 antibodies was significantly higher than in patients positive for only anti-MDA5 antibodies. The anti-MDA5 antibody-positive IPAF patients had a very poor prognosis, and mortality in these patients was as high as 54.55%. <b>Conclusion:</b> Anti-MDA5 antibodies are closely related to interstitial lung disease (ILD). The presence of both anti-MDA5 and anti-Ro52 antibodies indicates poor prognosis.

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.

scholarly journals Interstitial Lung Disease in Connective Tissue Disease: A Common Lesion With Heterogeneous Mechanisms and Treatment Considerations

2021 ◽  
Vol 12 ◽  
Author(s):  
Tihong Shao ◽  
Xiaodong Shi ◽  
Shanpeng Yang ◽  
Wei Zhang ◽  
Xiaohu Li ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Connective Tissue ◽  
Lung Disease ◽  
Blood Vessels ◽  
Connective Tissue Disease ◽  
Clinical Manifestations ◽  
Respiratory Muscles ◽  
Diagnostic Process ◽  
Imaging Features ◽  
Laboratory Assessment

Connective tissue disease (CTD) related interstitial lung disease (CTD-ILD) is one of the leading causes of morbidity and mortality of CTD. Clinically, CTD-ILD is highly heterogenous and involves rheumatic immunity and multiple manifestations of respiratory complications affecting the airways, vessels, lung parenchyma, pleura, and respiratory muscles. The major pathological features of CTD are chronic inflammation of blood vessels and connective tissues, which can affect any organ leading to multi-system damage. The human lung is particularly vulnerable to such damage because anatomically it is abundant with collagen and blood vessels. The complex etiology of CTD-ILD includes genetic risks, epigenetic changes, and dysregulated immunity, which interact leading to disease under various ill-defined environmental triggers. CTD-ILD exhibits a broad spectra of clinical manifestations: from asymptomatic to severe dyspnea; from single-organ respiratory system involvement to multi-organ involvement. The disease course is also featured by remissions and relapses. It can range from stability or slow progression over several years to rapid deterioration. It can also present clinically as highly progressive from the initial onset of disease. Currently, the diagnosis of CTD-ILD is primarily based on distinct pathology subtype(s), imaging, as well as related CTD and autoantibodies profiles. Meticulous comprehensive clinical and laboratory assessment to improve the diagnostic process and management strategies are much needed. In this review, we focus on examining the pathogenesis of CTD-ILD with respect to genetics, environmental factors, and immunological factors. We also discuss the current state of knowledge and elaborate on the clinical characteristics of CTD-ILD, distinct pathohistological subtypes, imaging features, and related autoantibodies. Furthermore, we comment on the identification of high-risk patients and address how to stratify patients for precision medicine management approaches.

scholarly journals COVID-19 Disease and Dermatomyositis: A Mini-Review

2022 ◽  
Vol 12 ◽  
Author(s):  
Jie Qian ◽  
Hui Xu
Keyword(s):  
Immune System ◽  
Interstitial Lung Disease ◽  
Inflammatory Response ◽  
Lung Disease ◽  
Inflammatory Cytokines ◽  
Early Identification ◽  
Poor Prognosis ◽  
Clinical Manifestations ◽  
Immunosuppressive Drugs ◽  
Interstitial Pulmonary Disease

The pandemic of coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 has caused a large number of deaths, and there is still no effective treatment. COVID-19 can induce a systemic inflammatory response, and its clinical manifestations are diverse. Recently, it has been reported that COVID-19 patients may develop myositis and interstitial pulmonary disease similar to dermatomyositis (DM). This condition is similar to the rapidly progressive interstitial lung disease associated with MDA5+ DM that has a poor prognosis and high mortality, and this poses a challenge for an early identification. Suppression of the immune system can protect COVID-19 patients by preventing the production of inflammatory cytokines. This article attempts to explore the possibility of a relationship between COVID-19 and DM in terms of the potential pathogenesis and clinical features and to analyze the therapeutic effect of the immunosuppressive drugs that are commonly used for the treatment of both DM and COVID-19.

Interstitial Lung Disease Associated with Anti-PM/Scl or Anti-Aminoacyl-tRNA Synthetase Autoantibodies: A Similar Condition?

2010 ◽  
Vol 37 (5) ◽  
pp. 1000-1009 ◽  
Author(s):  
JEAN-CHRISTOPHE LEGA ◽  
VINCENT COTTIN ◽  
NICOLE FABIEN ◽  
FRANÇOISE THIVOLET-BÉJUI ◽  
JEAN-FRANÇOIS CORDIER
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Manifestations ◽  
Trna Synthetase ◽  
Imaging Features ◽  
High Resolution Computed Tomography ◽  
Trna Synthetases ◽  
Ground Glass Attenuation ◽  
Pulmonary Manifestations ◽  
Cutaneous Rash

Objective.To compare anti-PM/Scl autoantibody-associated interstitial lung disease (ILD) with anti-aminoacyl-tRNA synthetases (anti-ARS) autoantibody-associated ILD.Methods.We retrospectively studied 21 patients with ILD from a department of respiratory medicine, including 9 with anti-PM/Scl autoantibodies (6 women, median age 55 yrs, followup 5.5 yrs) and 12 with anti-ARS autoantibodies (6 women, median age 59 yrs, followup 2.3 yrs).Results.Pulmonary manifestations in patients with anti-PM/Scl autoantibody-associated ILD usually followed the extrapulmonary manifestations of the connective tissue disease (CTD) (7/9 cases). The predominant imaging features on initial high resolution computed tomography were ground-glass attenuation and reticular opacities, and mainly suggested nonspecific interstitial pneumonia in both groups. CTD was classified as dermatomyositis (DM; 2), undifferentiated CTD (2), cutaneous limited systemic sclerosis (2), rheumatoid arthritis (RA; 1), and overlap syndrome (1) in the anti-PM/Scl group; and polymyositis (4), undifferentiated CTD (5), DM (1), amyopathic DM (1), and RA (1) in the anti-ARS group. Frequencies of arthralgia, Raynaud phenomenon, cutaneous rash, and mechanic’s hands were comparable in both groups. Myalgia or muscle weakness was present in 0/9 PM/Scl and 5/12 ARS patients (p < 0.05). More than 1 autoantibody was present in 11 patients. ILD worsened despite treatment in 4 patients with anti-PM/Scl autoantibodies and 2 with anti-ARS autoantibodies, and included 1 death.Conclusion.Anti-PM/Scl and anti-ARS antibodies are associated with similar clinical manifestations, with the exception only of more overt myositis in the latter, therefore challenging the clinical specificity of the antisynthetase syndrome.

scholarly journals Clinical characteristics associated with occurrence and poor prognosis of interstitial lung disease in rheumatoid arthritis

2019 ◽  
Vol 34 (2) ◽  
pp. 434-441 ◽  
Author(s):  
Ji Ae Yang ◽  
Jeong Seok Lee ◽  
Jin Kyun Park ◽  
Eun Bong Lee ◽  
Yeong Wook Song ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Poor Prognosis ◽  
Clinical Characteristics

scholarly journals COVID-19 or clinical amyopathic dermatomyositis associated rapidly progressive interstitial lung disease? A case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mengke Cao ◽  
Shuangshuang Zhang ◽  
Dejie Chu ◽  
Ming Xiao ◽  
Xiaohong Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Poor Prognosis ◽  
Chest Ct ◽  
Lung Damage ◽  
Ct Scans ◽  
Amyopathic Dermatomyositis ◽  
Case Presentation ◽  
Case Diagnosis

Abstract Background Coronavirus disease 2019 (COVID-19) has reach pandemic proportions globally. For patients with symptoms of fever and cough accompanied by rapid lung damage progression, COVID-19 needs to be distinguished from interstitial lung disease (ILD) attributed to connective tissue disease (CTD), especially dermatomyositis (DM)/clinical amyopathic dermatomyositis (CADM) associated rapidly progressive interstitial lung disease (RP-ILD). Case presentation We report a case of a woman observed with fever, cough, and rapid lung damage during the epidemic. The patient had a suspicious epidemiological history, and her chest CT scans showed lung damage similar to that caused by COVID-19, but anti-Ro52 antibody was strongly positive. She was diagnosed with CADM associated RP-ILD and died 1 month later. Conclusions During the COVID-19 epidemic, it is critical to carefully assess patients with CTD related ILD, especially RP-ILD associated with CADM. Repeated nucleic acid tests for COVID-19 are necessary to achieve accurate case diagnosis. High-resolution CT (HRCT) of the chest is presently deemed an inefficient technique to distinguishing between COVID-19 and CADM associated RP-ILD. The characteristic rashes of dermatomyositis require careful observation and can often provide diagnostic clues. For patients with CADM, a high titers of anti-Ro52 antibody may be related to the pathogenesis of RP-ILD, suggesting a poor prognosis.

Interstitial pneumonia with autoimmune features in a patient with melanoma differentiation-associated gene 5 (MDA5) antibody

2020 ◽  
Vol 13 (11) ◽  
pp. e234946
Author(s):  
Lih En Hong ◽  
Susanna Proudman ◽  
Vidya Limaye
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Interstitial Pneumonia ◽  
Serum Ferritin ◽  
Poor Prognosis ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
High Serum ◽  
Amyopathic Dermatomyositis ◽  
Lung Infiltrates

Melanoma differentiation-associated gene 5 (MDA5) antibody, also known as anti-CADM140 antibody is recognised to be associated with rapidly progressive interstitial lung disease, which can be fatal within 3 months. It is also known to be associated with amyopathic dermatomyositis. We report a case of MDA5 antibody-associated interstitial pneumonia with autoimmune features, without cutaneous features of dermatomyositis, in a Sudanese patient with dual positive antibodies to Ro52. The patient notably had several features associated with poor prognosis, including age, high serum ferritin level, anti-Ro52 antibodies and progressive lung infiltrates during treatment.

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.

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