RESUMO
BACKGROUND: Clinical amyopathic dermatomyositis is characterized by cutaneous symptoms but lacks muscle symptoms. Anti-melanoma differentiation-associated gene 5 antibodies are frequently found in Japanese patients with clinical amyopathic dermatomyositis. Patients with rapidly progressive interstitial lung disease with positive anti-melanoma differentiation-associated gene 5 antibodies have poor prognoses, and majority of them are treated with combination immunosuppressive therapy; however, the best treatment is yet to be determined. CASE PRESENTATION: A 52-year-old Asian male patient presented with a chief complaint of dyspnea on exertion. He had a typical skin rash and rapidly progressive interstitial pneumonia. Additionally, anti-melanoma differentiation-associated gene 5 antibodies were detected; therefore, he was diagnosed with dermatomyositis-associated interstitial pneumonia. Respiratory failure worsened despite administering steroid pulse therapy, tacrolimus, and cyclophosphamide. Consequently, plasma exchange was performed on day 13 of admission. After a slight improvement, the patient's respiratory failure worsened. Thus, cyclophosphamide was replaced by tofacitinib on day 28. Although respiratory failure improved and the progression of interstitial pneumonia seemed under control, ßD-glucan level increased and Aspergillus antigen was detected on day 49. Micafungin and voriconazole were administered, but the patient succumbed to worsening respiratory failure on day 61. The pathological autopsy revealed multiple nodular lesions with cavity formation in both lungs and the presence of Aspergillus with severe neutrophilic infiltration and necrosis, which supported the diagnosis of invasive pulmonary aspergillosis. CONCLUSION: The patient with anti-melanoma differentiation-associated gene 5 antibody-related rapidly progressive interstitial lung disease, whose disease was difficult to control after the administration of triple immunosuppressive therapy (steroids, tacrolimus, and cyclophosphamide), showed good response with tofacitinib. Unfortunately, the patient died of invasive pulmonary aspergillosis owing to severe immunosuppression; thus, the signs of complications should be promptly detected.
Assuntos
Dermatomiosite , Helicase IFIH1 Induzida por Interferon , Doenças Pulmonares Intersticiais , Piperidinas , Pirimidinas , Humanos , Dermatomiosite/tratamento farmacológico , Dermatomiosite/complicações , Dermatomiosite/imunologia , Masculino , Doenças Pulmonares Intersticiais/tratamento farmacológico , Pessoa de Meia-Idade , Pirimidinas/uso terapêutico , Helicase IFIH1 Induzida por Interferon/imunologia , Piperidinas/uso terapêutico , Piperidinas/administração & dosagem , Autoanticorpos/sangue , Imunossupressores/uso terapêutico , Resultado do Tratamento , Inibidores de Proteínas Quinases/uso terapêuticoRESUMO
BACKGROUND: Juvenile Dermatomyositis (JDM) is a rare disorder with subtypes associated with different myositis-specific antibodies (MSAs) including anti-MDA5. Hepatic involvement in JDM is rare and has not previously been documented in anti-MDA5 JDM. There is a lack of formal research on treatment protocols for anti-MDA5 JDM, though tofacitinib is a highly regarded emerging therapy. CASE PRESENTATION: A previously healthy 14-month-old Hispanic female presented to a pediatric rheumatology clinic with eight months of worsening rash, weakness, periorbital edema, intermittent fevers, and weight loss. Her physical exam was notable for fever, thinning of hair, heliotrope rash, periorbital edema, violaceous macules on her bilateral elbows, forearms, arms, and knees, arthritis, Gottron's sign, and hepatomegaly. The patient was admitted, and symptoms progressed to include hypoxemia. Subsequent workup was notable for ground glass opacities of bilateral lung fields on chest CT, myositis visualized on MRI and confirmed with muscle biopsy, and liver biopsy showing nonspecific signs of liver injury. After a thorough infectious disease workup to rule out concomitant infection, the patient was started on high-dose steroids and induction with cyclophosphamide. She responded well with disease remission maintained with tofacitinib in the outpatient setting. DISCUSSION AND CONCLUSIONS: Our patient is notable due to her young age at presentation, histopathologically confirmed liver injury, and response to treatment. The case adds to the growing body of literature supporting tofacitinib for anti-MDA5 JDM in the pediatric population. Future research can better standardize effective treatment protocols and define the mechanism of liver involvement. For patients with nonspecific liver injury, muscular, and cutaneous disease, anti-MDA5 JDM should be considered in the differential diagnosis with treatment options including tofacitinib for confirmed cases.
Assuntos
Dermatomiosite , Helicase IFIH1 Induzida por Interferon , Humanos , Feminino , Dermatomiosite/imunologia , Dermatomiosite/complicações , Dermatomiosite/tratamento farmacológico , Dermatomiosite/diagnóstico , Helicase IFIH1 Induzida por Interferon/imunologia , Lactente , Autoanticorpos , Hepatopatias/diagnóstico , Hepatopatias/etiologia , Piperidinas/uso terapêutico , Pirimidinas/uso terapêutico , Glucocorticoides/uso terapêuticoRESUMO
Objective: Observational studies have revealed a higher probability of hypothyroidism in patients with dermatomyositis (DM) or polymyositis (PM), but there is no consensus on whether hypothyroidism causally influences DM or PM. In the present study, we assessed the causal association between hypothyroidism and the risk of dermatomyositis or polymyositis using two-sample Mendelian randomization (TSMR). Methods: The genome-wide association data of hypothyroidism and dermatomyositis/polymyositis were obtained from the IEU Open GWAS project. Then, TSMR was used to determine whether hypothyroidism is causally associated with DM or PM. Single-nucleotide polymorphisms (SNPs) significantly associated with hypothyroidism were identified and used as instrumental variables (IVs), and the causal relationship between hypothyroidism and DM/PM was examined using TSMR. MR pleiotropy and Cochran's Q test were used to confirm the heterogeneity and pleiotropy of identified IVs, then four different models, including the inverse variance weighted model (IVW), MR-Egger, weighted median and weighted model were applied in this MR analysis. Results: Sixty-eight SNPs for DM and 68 SNPs for PM were selected as the IVs (P<5×10-8; linkage disequilibrium R2 <0.001) to assess the causal association between hypothyroidism and DM/PM selected from GWASs on hypothyroidism. The results revealed a positive causal effect of hypothyroidism on both DM and PM (DM: OR 2.563, 95% CI [1.348, 4.874], P = 0.00156; PM: OR1.709, 95% CI [1.157, 2.525], P =0.007). Moreover, there was no heterogeneity or pleiotropy in the results. Conclusion: In conclusion, the MR analysis results provided strong evidence to indicate that hypothyroidism might be causally associated with DM and PM. These findings may have important implications for the pathogenesis and possible future therapies of DM/PM.
Assuntos
Estudo de Associação Genômica Ampla , Hipotireoidismo , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo Único , Humanos , Hipotireoidismo/genética , Hipotireoidismo/complicações , Hipotireoidismo/epidemiologia , Polimiosite/genética , Polimiosite/complicações , Polimiosite/epidemiologia , Dermatomiosite/genética , Dermatomiosite/complicações , Dermatomiosite/epidemiologia , Predisposição Genética para DoençaRESUMO
OBJECTIVE: Idiopathic inflammatory myopathies (IIM) confer an increased risk of morbidity from atherosclerotic cardiovascular disease (ASCVD). While ASCVD risk has been studied in other countries, these results may not be applicable to patients with dermatomyositis (DM) and polymyositis (PM) in the United States. This retrospective analysis of a cohort of patients identified by ICD code from TriNetX investigated the incidence of ASCVD after International Classification of Disease (ICD) codes of DM, PM, dermatopolymyositis (DPM) or juvenile dermatomyositis (JDM). METHOD: Patients were identified by entry of two ICD codes separated by at least 6 months, according to their first diagnosis code; ASCVD was defined as first ICD code for myocardial infarction, ischemic stroke, transient ischemic attack, or peripheral arterial disease. Cox proportional hazards regression modeled time from first IIM ICD code to ASCVD event. RESULTS: A total of 35,554 patients were identified with the mean age at first IIM code of 54 and 26.1% were male. The most common comorbidity for all groups except JDM was hyperlipidemia (39.9%) though 79.2% of patients were on no cholesterol lowering medication. ASCVD occurred in 30.4% of patients with PM, 24.3% of patients with DM and 0.9% of patients with JDM. Patients with PM had a median time to event of 9.7 years (95% Confidence interval (CI) 9.1, 10.7) and 14.3 years (95% CI 12.6, 14.8) for DM. This study demonstrates that ASCVD is a comorbidity occurring after a median of 12.5 years (95% CI 11.9, 13.6) in patients with IIM. CONCLUSIONS: ASCVD appears to be a long-term complication for IIM patients occurring in nearly a quarter of US patients without prior ASCVD with at least two ICD codes for IIM, with a median time to event of 12.5 years. There appears to be a practice gap in the recognition and treatment of hyperlipidemia in these patients. Key Points ⢠Hyperlipidemia was a common comorbidity identified in patients with IIM though most patients were not on cholesterol lowering medication. ⢠Development of ASCVD appears to be a long-term complication for patients with IIM in the United States.
Assuntos
Aterosclerose , Miosite , Sistema de Registros , Humanos , Masculino , Estudos Retrospectivos , Feminino , Pessoa de Meia-Idade , Aterosclerose/epidemiologia , Aterosclerose/complicações , Aterosclerose/diagnóstico , Miosite/epidemiologia , Miosite/diagnóstico , Miosite/complicações , Adulto , Idoso , Estados Unidos/epidemiologia , Incidência , Modelos de Riscos Proporcionais , Comorbidade , Dermatomiosite/epidemiologia , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Polimiosite/epidemiologia , Polimiosite/complicações , Polimiosite/diagnóstico , Fatores de RiscoRESUMO
Anti-melanoma differentiation-associated protein 5 (MDA5) antibody positive clinically amyopathic dermatomyositis (CADM) is a subtype of inflammatory myopathy associated with a distinct clinical phenotype, characterized by rapidly progressing interstitial lung disease and limited muscle involvement. Although cases with onset of anti-MDA5 antibody positive CADM during pregnancy or the postpartum period are rare, they present unique challenges due to a potential pregnancy complications and the possible severity of the disease course. We present a case of anti-MDA5 antibody positive CADM that developed during the postpartum period following childbirth without any pregnancy complication. Additionally, we conducted a comprehensive review of case reports and series of similar cases to elucidate the clinical characteristics and outcomes. Our analysis revealed considerable variability in disease presentation, ranging from severe cases requiring multi-targeted therapy to well-controlled cases with less demanding treatments. The scarcity of evidence in this population underscores the importance of accumulating evidence from case series to inform treatment strategies. More precise prediction tools are needed to effectively manage this rare subset of patients.
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Autoanticorpos , Dermatomiosite , Helicase IFIH1 Induzida por Interferon , Feminino , Humanos , Gravidez , Autoanticorpos/sangue , Dermatomiosite/imunologia , Dermatomiosite/tratamento farmacológico , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Helicase IFIH1 Induzida por Interferon/imunologia , Período Pós-PartoAssuntos
Biomarcadores , Quimiocina CXCL16 , Dermatomiosite , Progressão da Doença , Doenças Pulmonares Intersticiais , Doenças Pulmonares Intersticiais/imunologia , Doenças Pulmonares Intersticiais/sangue , Doenças Pulmonares Intersticiais/complicações , Humanos , Dermatomiosite/sangue , Dermatomiosite/complicações , Dermatomiosite/imunologia , Biomarcadores/sangue , Prognóstico , Quimiocina CXCL16/sangueRESUMO
Purpose: Amyopathic dermatomyositis (ADM) is a rare, idiopathic, connective tissue disease and melanoma differentiation-associated protein 5 (MDA5) antibody-positive ADM is more treatment-resistant, especially in patients with interstitial lung disease (ILD). The purpose of this article is to report a case of anti-MDA5-positive ADM successfully treated with JAK inhibitor Upadacitinib.Materials and methods: A 35-year-old Chinese woman presented with recurrent itchy erythema on her face and scalp for 4 years. Upon examination, there were heliotrope erythema and eyelid edema, reddish rash on neck and scalp. Biopsy of the lesions was consistent with DM and a line blot assay confirmed the presence of anti-MDA5 antibodies. This patient was treated with oral Upadacitinib at a dosage of 30 mg daily.Results: After 6 weeks of treatment, she achieved complete clinical remission with no reported side effects or instances of relapse. The antibody titer of anti-MDA5 was also decreased.Conclusions: Upadacitinib may be a potential drug candidate in patients with treatment-resistant ADM, especially in cases with refractory cutaneous conditions.
Assuntos
Dermatomiosite , Compostos Heterocíclicos com 3 Anéis , Helicase IFIH1 Induzida por Interferon , Humanos , Feminino , Dermatomiosite/tratamento farmacológico , Dermatomiosite/imunologia , Dermatomiosite/complicações , Dermatomiosite/patologia , Helicase IFIH1 Induzida por Interferon/imunologia , Adulto , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Compostos Heterocíclicos com 3 Anéis/administração & dosagem , Resultado do Tratamento , Autoanticorpos/sangue , Autoanticorpos/imunologia , Inibidores de Janus Quinases/uso terapêutico , Inibidores de Janus Quinases/administração & dosagemAssuntos
Biomarcadores , Quimiocina CXCL16 , Dermatomiosite , Progressão da Doença , Doenças Pulmonares Intersticiais , Humanos , Doenças Pulmonares Intersticiais/complicações , Dermatomiosite/complicações , Dermatomiosite/sangue , Biomarcadores/sangue , Prognóstico , Quimiocina CXCL16/sangue , Feminino , MasculinoAssuntos
Dermatomiosite , Helicase IFIH1 Induzida por Interferon , Linfo-Histiocitose Hemofagocítica , Humanos , Dermatomiosite/complicações , Linfo-Histiocitose Hemofagocítica/complicações , Helicase IFIH1 Induzida por Interferon/imunologia , Masculino , Feminino , Autoanticorpos/imunologia , Autoanticorpos/sangue , Pessoa de Meia-IdadeRESUMO
Dermatomyositis (DM) and polymyositis are idiopathic inflammatory myopathies (IIMs), most associated with solid organ malignancies, and less commonly hematological malignancies. We discuss a case of DM associated with diffuse large B-cell lymphoma, followed by a review of literature on the pathogenesis, clinical course, treatment, and prognosis. Various challenges with the diagnosis and management of underlying lymphoproliferative disorders (LPDs) in patients with IIM are discussed. The case demonstrates the importance of being vigilant of the association between IIM and LPD. Cancer screening in patients with IIM is discussed, including the recently published International Guideline for IIM-Associated Cancer Screening. More research is required to address knowledge gaps in cancer screening in IIM.
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Dermatomiosite , Linfoma Difuso de Grandes Células B , Humanos , Dermatomiosite/diagnóstico , Dermatomiosite/complicações , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/complicações , Transtornos Linfoproliferativos/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Detecção Precoce de Câncer , PrognósticoAssuntos
Calcinose , Dermatomiosite , Criança , Humanos , Calcinose/tratamento farmacológico , Calcinose/imunologia , Calcinose/etiologia , Calcinose/diagnóstico por imagem , Calcinose/diagnóstico , Dermatomiosite/imunologia , Dermatomiosite/tratamento farmacológico , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Imunoglobulinas/administração & dosagem , Injeções Subcutâneas , Resultado do TratamentoRESUMO
ABSTRACT: Clinically amyopathic dermatomyositis (CADM) is a rare subtype of dermatomyositis that presents with cutaneous features and no muscle involvement. This case report describes a 26-year-old woman with recurrent and multiple digital ulcerations coinciding with the start of winter each year. There was no evidence of myopathy, and antibody testing yielded negative results. A diagnosis of CADM was ultimately made based on clinicopathologic correlation. The patient's ulcers demonstrated excellent response to a combination therapy of hydroxychloroquine and potent topical and systemic steroids. Herein, the authors discuss the pathologic and immunologic characteristics of CADM.
Assuntos
Dermatomiosite , Dedos , Úlcera Cutânea , Humanos , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Dermatomiosite/tratamento farmacológico , Feminino , Adulto , Úlcera Cutânea/diagnóstico , Úlcera Cutânea/etiologia , Úlcera Cutânea/tratamento farmacológico , Hidroxicloroquina/uso terapêutico , Resultado do TratamentoRESUMO
OBJECTIVE: To investigate the prognostic factors of patients with anti-melanoma differentiation-associated gene 5 (MDA5) positive clinically amyopathic dermatomyositis (CADM) and interstitial lung disease (ILD). METHODS: A retrospective analysis was conducted on clinical data of 125 patients with anti-MDA5 + CADM-ILD collected from 10 branches in eastern China between December 2014 and December 2022. Prognostic factors were analyzed using χ2 test, Log-rank test, COX and logistic regression analysis. RESULTS: In this cohort, 125 anti-MDA5 + CADM-ILD patients exhibited a rapidly progressive interstitial lung disease (RPILD) incidence of 37.6%, and an overall mortality rate of 24.8%. One patient was lost to follow-up. After diagnosis of RPILD, a mortality rate of 53.2% occurred in patients died within 3 months, and that of 5.6% appeared in those who survived for more than 3 months. Multiple factor analysis revealed that C-reactive protein (CRP) ≥ 10 mg/L (p = 0.01) and recombinant human tripartite motif containing 21 (Ro52) (+) (p = 0.003) were associated with a higher risk of RPILD in anti-MDA5 + CADM-ILD patients; CRP ≥ 10 mg/L (p = 0.018) and the presence of RPILD (p = 0.003) were identified as the factors influencing survival time in these patients, while arthritis was the protective factor (p = 0.016). CONCLUSION: Patients with anti-MDA5 + CADM-ILD will have a higher mortality rate, and the initial 3 months after diagnosis of RPILD is considered the risk window for the dismal prognosis. Patients with CRP ≥ 10 mg/L, Ro52 (+) and RPILD may be related to a shorter survival time, while patients complicated with arthritis may present with relatively mild conditions.
Assuntos
Dermatomiosite , Helicase IFIH1 Induzida por Interferon , Doenças Pulmonares Intersticiais , Humanos , Doenças Pulmonares Intersticiais/mortalidade , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/complicações , Dermatomiosite/complicações , Dermatomiosite/mortalidade , Dermatomiosite/diagnóstico , Dermatomiosite/sangue , Helicase IFIH1 Induzida por Interferon/imunologia , Masculino , Feminino , Prognóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Autoanticorpos/sangue , Autoanticorpos/imunologia , China/epidemiologia , IdosoRESUMO
BACKGROUND: Clinical guidance on the identification and management of connective tissue disease-associated interstitial lung disease (CTD-ILD) is needed for optimal clinical practice. We aimed to develop clinical algorithms for identifying and managing three common CTD-ILDs: those associated with systemic sclerosis (SSc-ILD), rheumatoid arthritis (RA-ILD), and polymyositis/dermatomyositis (PM/DM-ILD). RESEARCH DESIGN AND METHODS: Meetings were held October-November 2023 to create consensus-based algorithms for identifying and managing SSc-ILD, RA-ILD, and PM/DM-ILD in clinical practice, based on expert consensus statements for identification and management of CTD-ILD previously derived from a Delphi process. RESULTS: We developed clinical algorithms for SSc-ILD, RA-ILD, and PM/DM-ILD that highlight both commonalities and differences in the identification and management of these CTD-ILDs. Importantly, ILD should be suspected in patients with SSc, RA, or PM/DM who have respiratory symptoms. Chest high-resolution computed tomography has utility for screening, diagnosis and assessment of severity. Furthermore, regular follow-up and multidisciplinary management are important. Disease-specific considerations include unique risk factors such as anti-topoisomerase I antibodies in SSc-ILD, high-titer cyclic citrullinated peptide antibodies in RA, anti-aminoacyl tRNA synthetase antibodies in PM/DM, and anti-melanoma differentiation-associated gene 5 antibody in DM. CONCLUSIONS: These algorithms may help physicians to identify and manage patients with SSc-ILD, RA-ILD, or PM/DM-ILD.
Assuntos
Algoritmos , Artrite Reumatoide , Consenso , Dermatomiosite , Doenças Pulmonares Intersticiais , Escleroderma Sistêmico , Humanos , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/imunologia , Doenças Pulmonares Intersticiais/terapia , Dermatomiosite/imunologia , Dermatomiosite/diagnóstico , Dermatomiosite/complicações , Dermatomiosite/terapia , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Artrite Reumatoide/complicações , Artrite Reumatoide/diagnósticoRESUMO
OBJECTIVES: Rapidly progressive interstitial lung disease (RPILD) in patients with dermatomyositis (DM) significantly impacts prognosis, leading to high mortality rates. Although several indicators have been demonstrated to strongly correlate with the risk of developing RPILD, their clinical utility still needs to be investigated. The objective of this study was to investigate the clinical significance of soluble CXCL16 (sCXCL16) in DM patients complicated with RPILD. METHODS: Serum sCXCL16 was measured by enzyme-linked immunosorbent assay in 96 patients with DM and 55 matching healthy donors. Correlations between sCXCL16 levels and clinical features, laboratory examinations and the predictive value of baseline sCXCL16 level for RPILD were analysed. RESULTS: The serum sCXCL16 levels were significantly higher in patients with DM (n = 96, 3.264 ± 1.516 ng/mL) compared with healthy donors (n = 55, 1.781 ± 0.318 ng/mL), especially in DM complicated with RPILD (n = 31, 4.441 ± 1.706 ng/mL). The sCXCL16 levels were positively correlated with levels of serum ferritin, C reactive protein, erythrocyte sedimentation rate, lactate dehydrogenase, hydroxybutyrate dehydrogenase, and negatively correlated with peripheral lymphocytes percentage, but showed no correlation with levels of anti-melanoma differentiation-associated gene 5 antibody, Krebs von den Lungen-6 or creatine kinase. Multivariable analysis showed that elevated sCXCL16 was an independent prognostic factor for poor prognosis of RPILD in patients with DM. The 2-year survival rate was significantly lower in patients with high sCXCL16 level than in those with low sCXCL16 level. CONCLUSION: A higher serum sCXCL16 level was identified as a predictive biomarker of RPILD in patients with DM, and closely associated with poor prognosis.
Assuntos
Biomarcadores , Quimiocina CXCL16 , Dermatomiosite , Progressão da Doença , Doenças Pulmonares Intersticiais , Humanos , Dermatomiosite/sangue , Dermatomiosite/complicações , Doenças Pulmonares Intersticiais/sangue , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/mortalidade , Masculino , Feminino , Pessoa de Meia-Idade , Biomarcadores/sangue , Prognóstico , Quimiocina CXCL16/sangue , Adulto , Idoso , Receptores Depuradores/sangueRESUMO
Dermatomyositis is a rare, autoimmune systemic disorder of unknown aetiology that presents as a constellation of clinical symptoms and signs primarily affecting skin and muscles. Patients with dermatomyositis can present with rare "non-canonical" manifestations. Focal or generalised oedema is an infrequent and often overlooked symptom of the disease, while spontaneous intramuscular haemorrhage is an even rarer and under-recognised, life-threatening complication that constitutes a medical emergency for clinical physicians. There are no known predisposing factors able to predict which patients will develop this complication and specific instructions considering treatment approach are currently lacking. Herein, we present a case of a patient with dermatomyositis complicated by both anasarca and spontaneous intramuscular haemorrhage. In order to raise awareness and timely diagnosis of such patients, we provide a review of the relevant literature and of the cases reported this far.
Assuntos
Dermatomiosite , Edema , Humanos , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Feminino , Hemorragia/etiologia , Pessoa de Meia-Idade , Masculino , Doenças Musculares/complicações , Doenças Musculares/diagnósticoRESUMO
Anti-melanoma differentiation-associated gene 5-positive (Anti-MDA5) dermatomyositis (DM) is an aggressive phenotype of DM associated with rapidly progressive interstitial lung disease (RP-ILD). It is a rare condition that carries high mortality. Diagnosis and management of patients with anti-MDA5 DM RP-ILD presents several challenges, including uncertainty around treatment algorithms and a lack of evidence to inform practice. This case report of a patient with anti-MDA5 DM RP-ILD highlights these challenges, emphasising the fulminant course of this disease despite aggressive immunosuppression. Further research is required to guide management and to minimise morbidity and mortality, and greater awareness of the condition is required to minimise delays in diagnosis.