Anti-MDA5 Antibody-Associated Clinically Amyopathic Dermatomyositis: Case Report and Literature Review

Kersey, Cooper B.; Oshinsky, Charles; Wahl, Elizabeth; Newman, Thomas A.

doi:10.1007/s11606-021-07131-7

Cited by 3 publications

(6 citation statements)

References 8 publications

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“…2 Musculoskeletal involvement of anti-MDA5 dermatomyositis is uncommon or can even be absent clinically (i.e., amyopathic). 1,9 Extramuscular/ cutaneous manifestations, in particular pulmonary and hepatic involvement, are not uncommon. Severe cardiomyopathy has also been reported.…”

Section: Discussionmentioning

confidence: 99%

Increased histological severity and chronicity of interface inflammation in anti‐MDA5 dermatomyositis—A comparative dermatopathological analysis

et al. 2023

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Anti‐melanoma differentiation‐associated gene 5 (MDA5) dermatomyositis is characterized by serological detection of anti‐MDA5 antibody and rapidly progressive interstitial lung disease. In this study, the largest cohort of skin biopsies to date of anti‐MDA5 dermatomyositis was reviewed and compared with cases of dermatomyositis with negative serology. Findings contribute to the histological diagnosis and evaluation of the severity of cutaneous inflammation in anti‐MDA5 dermatomyositis. Skin biopsies collected over a 7‐year period from individuals with clinically and histologically confirmed dermatomyositis with anti‐MDA5 serology were reviewed. A total of 46 cases with 17 anti‐MDA5 positive cases were retrieved. Patients with positive antibody were younger (53.7 vs. 60.6 years, p = .013). No differences in epidermal changes (p > .05) were observed. Pertaining to interface changes, anti‐MDA5 dermatomyositis showed a higher degree of pigmentary incontinence (p = .014), suggesting increased and sustained cutaneous inflammation. Periodic acid–Schiff (PAS) stain demonstrated a greater degree of basement membrane thickening (p = .045). Other parameters, including dermal inflammation, dermal mucin deposition and vasculitic/vasculopathic features did not show statistical difference between anti‐MDA5 positive and negative dermatomyositis (p > .05). Findings suggest increased cutaneous inflammation for anti‐MDA5 dermatomyositis. In skin biopsies, marked pigmentary incontinence or basement membrane thickening should raise suspicion of anti‐MDA5 dermatomyositis.

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Section: Discussionmentioning

confidence: 99%

Increased histological severity and chronicity of interface inflammation in anti‐MDA5 dermatomyositis—A comparative dermatopathological analysis

et al. 2023

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“…CADM is associated with an increased risk of developing ILD and more specifically, RP-ILD, leading to increased morbidity and mortality in affected individuals [1]. One metaanalysis found that the presence of anti-MDA5 antibodies had a sensitivity of 77% and specificity of 86% for the development of RP-ILD, with an associated mortality of 59% [5].…”

Section: Discussionmentioning

confidence: 99%

“…Clinically amyopathic dermatomyositis (CADM) is a rare form of idiopathic inflammatory myositis that is frequently associated with autoantibodies against melanoma differentiation-associated protein 5 (MDA5) [1]. Other than its association with a myositis specific antibody, a major distinguishing feature of CADM is the lack of muscle involvement that is typically seen with other inflammatory myopathies [2].…”

Section: Introductionmentioning

confidence: 99%

“…Other than its association with a myositis specific antibody, a major distinguishing feature of CADM is the lack of muscle involvement that is typically seen with other inflammatory myopathies [2]. Furthermore, affected individuals are at an increased risk of developing rapidly progressive interstitial lung disease (RP-ILD), leading to significantly higher morbidity and mortality compared to other inflammatory myopathies [1]. Although not fully understood, the pathogenesis of CADM associated ILD (CAMD-ILD) is multifactorial, involving environmental, genetic, and immunological factors leading to compliment and macrophage activation [3,4].…”

Section: Introductionmentioning

confidence: 99%

“…Although not fully understood, the pathogenesis of CADM associated ILD (CAMD-ILD) is multifactorial, involving environmental, genetic, and immunological factors leading to compliment and macrophage activation [3,4]. Therapeutic options are limited and typically involve combination immunosuppression therapy [1]. We present the case of a healthy male with anti-MDA5 associated CADM with RP-ILD highlighting the aggressive disease course, challenges in diagnosis, and difficulties in management.…”

Section: Introductionmentioning

confidence: 99%

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Anti-MDA5 Associated Clinically Amyopathic Dermatomyositis With Rapidly Progressive Interstitial Lung Disease

et al. 2022

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Anti-melanoma differentiation-associated protein 5 (anti-MDA5) associated clinically amyopathic dermatomyositis (CADM) is a rare entity that is frequently associated with rapidly progressive interstitial lung disease. The disease is characterized by its association with a distinct myositis specific antibody, the lack of muscle involvement seen with other inflammatory myopathies, and a strong correlation with the development of rapidly progressive interstitial lung disease. Diagnosis is based on clinical findings and the presence of autoantibodies. Management generally involves combination immunosuppression therapy. However, the disease course is often aggressive and lends a poor prognosis. We report a case of a healthy 55-year-old male who presented with dyspnea, dry cough, and joint pain for 1 month. The patient was diagnosed with anti-MDA5 associated CADM with interstitial lung disease after a complete rheumatological workup found elevated titers of MDA5 antibodies and computed tomography of the chest without contrast revealed radiographic evidence of interstitial lung involvement. Disease course was complicated by the development of Pneumocystis pneumonia as a result of profound immunosuppression from combination immunosuppressant therapy. Our patient eventually succumbed to his illness approximately 10 weeks following initial symptom onset. This case highlights the aggressive nature of the disease and the challenges in management. Further research is warranted to establish more effective therapeutic options.

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Clinical and HRCT features of amyopathic dermatomyositis associated with interstitial lung disease: A retrospective study of 128 patients with connective tissue disease-related interstitial lung disease

Zhou

et al. 2023

The American Journal of the Medical Sciences

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Anti-MDA5 Antibody-Associated Clinically Amyopathic Dermatomyositis: Case Report and Literature Review

Cited by 3 publications

References 8 publications

Increased histological severity and chronicity of interface inflammation in anti‐MDA5 dermatomyositis—A comparative dermatopathological analysis

Increased histological severity and chronicity of interface inflammation in anti‐MDA5 dermatomyositis—A comparative dermatopathological analysis

Anti-MDA5 Associated Clinically Amyopathic Dermatomyositis With Rapidly Progressive Interstitial Lung Disease

Clinical and HRCT features of amyopathic dermatomyositis associated with interstitial lung disease: A retrospective study of 128 patients with connective tissue disease-related interstitial lung disease

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