Anti–Melanoma Differentiation–Associated Protein 5–Associated Dermatomyositis: Expanding the Clinical Spectrum

Hall, John C.; Casciola‐Rosen, Livia; Samedy‐Bates, Lesly‐Anne; Werner, Jessie L.; Owoyemi, Kristie; Danoff, Sonye K.; Christopher‐Stine, Lisa

doi:10.1002/acr.21992

Cited by 269 publications

(262 citation statements)

References 33 publications

Supporting

Mentioning

218

Contrasting

Unclassified

Order By: Relevance

“…The anti-MDA5 autoantibodies are specific for dermatomyositis, and may be found in 7-13% of adult dermatomyositis patients (table 2) [34][35][36]. Clinically significant myositis is present in only 20% of patients with anti-MDA5 autoantibodies [37].…”

Section: Classification Based On Autoantibodiesmentioning

confidence: 99%

“…The detection of anti-MDA5 autoantibodies identifies dermatomyositis patients with a high risk of developing rapidly progressive ILD, with a pooled sensitivity of 77% and a specificity of 86% in a meta-analysis of 631 dermatomyositis or polymyositis patients [64,65]. Fulminant presentations with ILD, CADM and anti-MDA-5 autoantibodies may be especially frequent in Japanese patients compared with other east Asian or non-Asian patients [35,64], although a publication bias cannot be excluded. In a Japanese retrospective series of 54 patients with JDM [66], 10 had rapidly progressive ILD and 19 had chronic ILD, illustrating the particularly frequent pulmonary involvement in the Asian population.…”

Section: Rapidly Progressive Ildmentioning

confidence: 99%

See 1 more Smart Citation

Idiopathic inflammatory myopathies and the lung

et al. 2015

View full text Add to dashboard Cite

Idiopathic inflammatory myositis (IIM) is a group of rare connective tissue diseases (CTDs) characterised by muscular and extramuscular signs, in which lung involvement is a challenging issue. Interstitial lung disease (ILD) is the hallmark of pulmonary involvement in IIM, and causes morbidity and mortality, resulting in an estimated excess mortality of 50% in some series. Except for inclusion body myositis, these extrapulmonary disorders are associated with the general and visceral involvement frequently found in other CTDs including fever, Raynaud's phenomenon, arthralgia, nonspecific cutaneous modifications and ILD, for which the prevalence is estimated to be up to 65%. Substantial heterogeneity exists within the spectrum of IIMs, and each condition is associated with various frequencies and subtypes of pulmonary involvement. This heterogeneity is partly related to the presence of various autoantibodies encompassing anti-synthetase, anti-MDA5 and anti-PM/Scl. ILD is present in all subsets of IIM including juvenile myositis, but is more frequent in dermatomyositis and overlap myositis. IIM can also be associated with other presentations of respiratory involvement, namely pulmonary arterial hypertension, pleural disease, infections, drug-induced toxicity, malignancy and respiratory muscle weakness. Here, we critically review the current knowledge about adult and juvenile myositis-associated lung disease with a detailed description of therapeutics for chronic and rapidly progressive ILD. @ERSpublications Interstitial lung disease is a leading cause of morbidity in dermatomyositis/polymyositis

show abstract

Section: Classification Based On Autoantibodiesmentioning

confidence: 99%

Section: Rapidly Progressive Ildmentioning

confidence: 99%

Idiopathic inflammatory myopathies and the lung

et al. 2015

View full text Add to dashboard Cite

show abstract

“…14,16 ANA and anti-Jo1 antibodies are frequently negative. 6,7,12,17 This patient presented with markedly elevated ferritin, normal CK, mildly elevated aldolase, and negative ANA and anti-Jo1 antibodies. There is currently no commercially available test to detect anti-MDA5 antibodies, though testing can be done in specialized research laboratories.…”

Section: Discussionmentioning

confidence: 99%

Anti-MDA5-Positive Dermatomyositis Presenting as Fever of Unknown Origin

et al. 2016

View full text Add to dashboard Cite

Dermatomyositis is a chronic systemic autoimmune disease characterized by inflammatory infiltrates in the skin and muscle. The wide variability in clinical and serologic presentation poses a diagnostic challenge for the internist. Appreciation of the clinical variants of dermatomyositis allows for expedient diagnosis and avoidance of diagnostic error. We illustrate these challenges with the case of a 51-year-old VietnameseAmerican man who initially presented with fever of unknown origin in the absence of overt skin and muscle manifestations. The diagnosis of dermatomyositis was not evident on several clinical encounters due to the absence of these hallmark symptoms. We review the variable clinical manifestations of a subtype of dermatomyositis associated with an autoantibody against melanoma differentiation-associated protein 5 (anti-MDA5) and suggest consideration of dermatomyositis as a diagnosis in patients presenting with systemic illness and markedly elevated ferritin, even in the absence of elevated muscle enzymes and classic autoantibodies. CASE PRESENTATIONA 51-year-old Vietnamese-American male industrial engineer was admitted to the medical ward for evaluation of fever of unknown origin (FUO). He reported 3 weeks of fever, fatigue, generalized weakness, and dyspnea. His past medical history included a remote 10-pack-year history of cigarette smoking and latent tuberculosis treated with 9 months of isoniazid treatment, completed 5 years prior. He had moved from Vietnam to the United States 30 years earlier and denied any recent travel, sick contacts, or insect bites. Physical examination revealed a fatigued man, with a temperature of 38.1°C, pulse of 108 beats/minute, respiratory rate of 28 breaths/minute, and room air oxygen saturation of 96 %. Oropharyngeal, neurologic, pulmonary, cardiac, musculoskeletal, and skin evaluation were otherwise normal.A complete blood count (CBC) revealed anemia (hemoglobin 12.3 g/dL, hematocrit 38.5 %). White blood cell counts, platelet counts, and the basic metabolic panel were normal. Erythrocyte sedimentation rate (ESR) was 97 mm/hr and C-reactive protein (CRP) was 5.7 mg/dL. Muscle enzymes, sent to evaluate his weakness in the setting of elevated inflammatory markers, showed normal creatine kinase (CK) at 44 units/liter and mildly elevated aldolase to 9.4 U/L (normal: < 7.7 U/L). Blood, urine, and sputum cultures had no growth. Chest x-ray (CXR) demonstrated low lung volumes with increased reticular markings, small bilateral pleural effusions, and bibasilar opacities. During the hospitalization, he continued to have intermittent fevers as high as 39.1°C, generalized weakness, and dyspnea. Additionally, he developed bibasilar crackles on pulmonary exam and flat, diffuse, slightly hyperpigmented patches on his arms and chest that faded over several days. Extensive workup for infectious, inflammatory, and malignant causes of fever was unrevealing, including negative viral hepatitis serologies, human immunodeficiency virus antibody, anti-nuclear antibody (ANA), and anti-...

show abstract

“…[25][26][27][28] After the application of strict inclusion and exclusion criteria, the prevalence of anti-PM/SCl in the present study was 5.9% and 6.3% in DM and PM patients, respectively.…”

Section: ■ Discussionmentioning

confidence: 64%

Patients with pure dermatomyositis/polymyositis and anti-PM/Scl autoantibody resembling anti-synthetase syndrome

Alves¹,

Silva²,

Borges³

et al. 2018

Medical Express

View full text Add to dashboard Cite

OBJECTIVE:The anti-PM/Scl autoantibody has been described in patients with scleromyositis. However, there are scant studies evaluating its prevalence and reactivity in dermatomyositis and polymyositis. METHOD: A cross-sectional, single center study evaluating the anti-PM/Scl autoantibody in 85 dermatomyositis and 32 polymyositis patients, without overlapping syndrome, was conducted between 2000 and 2016. Clinical data and complementary examinations were reviewed from electronic medical records with pre-parameterized information. RESULTS:The mean age of dermatomyositis and polymyositis patients was 41.1 and 42.8 years, respectively. The presence of anti-PM/Scl was observed in 5 (5.9%) dermatomyositis and 2 (6.3%) polymyositis patients. Two of these patients also had the anti-Ku antibody. The relevant clinical manifestations of these 7 patients were constitutional symptoms (100% of cases), muscular (100%), pulmonary (85.7%) and joint (71.4%) involvement, "mechanic hands" (85.7%), Raynaud phenomenon (85.7%) and plantar hyperkeratosis (85.7%). The 7 patients had relapses of disease activity, but at conclusion of the present study, 5 had complete clinical response and 2 complete remission of the disease. CONCLUSION: There is a low frequency of the anti-PM/Scl autoantibody in dermatomyositis and polymyositis patients. In addition, patients with this autoantibody exhibit a similar pattern of manifestations to that of antisynthetase syndrome.

show abstract

Anti–Melanoma Differentiation–Associated Protein 5–Associated Dermatomyositis: Expanding the Clinical Spectrum

Cited by 269 publications

References 33 publications

Idiopathic inflammatory myopathies and the lung

Idiopathic inflammatory myopathies and the lung

Anti-MDA5-Positive Dermatomyositis Presenting as Fever of Unknown Origin

Patients with pure dermatomyositis/polymyositis and anti-PM/Scl autoantibody resembling anti-synthetase syndrome

Contact Info

Product

Resources

About