Clinical manifestations of dermatomyositis and clinically amyopathic dermatomyositis patients with positive expression of anti–melanoma differentiation–associated gene 5 antibody

Cao, Hua; Pan, Meng; Kang, Yanqing; Xia, Qing; Li, Xia; Zhao, Xiaoqing; Shi, Ruihan; Lou, Jiatao; Zhou, Min; Kuwana, Masataka; Ding, Xiao-Yi; Zheng, Jie

doi:10.1002/acr.21728

Cited by 164 publications

(181 citation statements)

References 34 publications

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“…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]. In a large European cohort of 285 childhood-onset IIM patients, anti-MDA5 autoantibodies were found in 7% of patients (table 2) and were associated with a higher frequency of mild muscular involvement and of radiological evidence of ILD (19%) [38].…”

Section: Classification Based On Autoantibodiesmentioning

confidence: 99%

Idiopathic inflammatory myopathies and the lung

et al. 2015

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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

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Section: Classification Based On Autoantibodiesmentioning

confidence: 99%

Idiopathic inflammatory myopathies and the lung

et al. 2015

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“…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: 88%

“…[6][7][8][9][10][11] Anti-MDA5-positive-DM patients typically present with prominent skin manifestations, including heliotrope rash, Gottron's papules as well as cutaneous ulceration and tender palmar papules, the latter of which are unique to anti-MDA5-positive-DM (Table 1). 6,[12][13][14] Oral manifestations-including oral ulceration, mucosal pain, and hoarseness-are common, as are arthritis, arthralgia, and fever. 6,7,9,15 This patient initially • Mucosal pain • Alopecia had fever and later developed hoarseness, pharyngeal ulceration, arthritis, and arthralgia.…”

Section: Discussionmentioning

confidence: 99%

“…6,7,12,14,16 In comparison to other patients with dermatomyositis and ILD, anti-MDA5-positive-DM patients are more likely to have rapidly progressive disease. 7,8 The development and rapid progression of ILD may account for the significantly higher mortality observed in anti-MDA5-positive-DM patients as compared to serologically negative cohorts.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

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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-...

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“…50 Thus for example the MSA anti-MDA5 has been shown to be associated with an increased risk of lung involvement and ulceration, yet mild muscle involvement, in both juvenile and adult DM. 51,52 Identifying anti-MDA-5 positive patients can enable careful screening by CT scan to detect lung disease and allow early treatment of this devastating complication. Again this area of progress has been rapid in part due to the fact that the biological stability of the biomarker protein (antibody) in serum enables sharing and biomarker comparisons from a wide range of centres.…”

Section: Lessons From Biomarker Discoverymentioning

confidence: 99%