Asunto(s)
Calcinosis , Dermatomiositis , Niño , Humanos , Calcinosis/tratamiento farmacológico , Calcinosis/inmunología , Calcinosis/etiología , Calcinosis/diagnóstico por imagen , Calcinosis/diagnóstico , Dermatomiositis/inmunología , Dermatomiositis/tratamiento farmacológico , Dermatomiositis/complicaciones , Dermatomiositis/diagnóstico , Inmunoglobulinas/administración & dosificación , Inyecciones Subcutáneas , Resultado del TratamientoRESUMEN
BACKGROUND: To assess the prevalence and clinical relevance of anti-Jo-1 autoantibodies in a representative sample of patients with definite dermatomyositis (DM). METHODS: This retrospective cohort study took place from 2005 to 2020 and assessed 118 adult patients from a tertiary center who were diagnosed with definite DM. A commercial kit was used to detect anti-Jo-1 autoantibodies. RESULTS: The presence of anti-Jo-1 autoantibodies was observed in 10 out of 118 (8.5%) patients with definite DM. The following variables were comparable between individuals with and without anti-Jo-1 autoantibodies: age at diagnosis, sex, ethnicity, disease duration, follow-up period, recurrence rate, complete clinical response, death rate, and cancer incidence. There was no difference in clinical features between groups, except for an increased prevalence of "mechanic's hands," joint involvement, and lung disease, as well as a reduced occurrence of skin findings in patients positive for anti-Jo-1 autoantibodies. No anti-Jo-1-positive patients went into remission; they required greater use of glucocorticoids and immunosuppressive drugs. CONCLUSIONS: Anti-Jo-1 positivity was found in 8.5% of patients with definite DM. This autoantibody was associated with an antisynthetase syndrome phenotype and might predict clinical outcomes in patients with definite DM.
Asunto(s)
Anticuerpos Antinucleares/inmunología , Autoanticuerpos/análisis , Dermatomiositis/inmunología , Adulto , Factores de Edad , Dermatomiositis/diagnóstico , Dermatomiositis/tratamiento farmacológico , Dermatomiositis/etnología , Femenino , Glucocorticoides/uso terapéutico , Humanos , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana Edad , Miositis/inmunología , Prednisona/uso terapéutico , Recurrencia , Estudios Retrospectivos , Factores SexualesRESUMEN
BACKGROUND: Concerns about the safety and efficacy of vaccines in patients with autoimmune diseases (AID) have led to contradictions and low vaccination coverage in this population, who are at a higher risk of infections, including by human papillomavirus (HPV). Although HPV vaccines have been recommended for immunocompromised patients, there is still a lack of data to support its use for AID patients, such as juvenile dermatomyositis (JDM) patients. The aim of this study was to assess the safety and immunogenicity of the quadrivalent HPV (qHPV) vaccine in a cohort of JDM patients. METHODS: JDM patients aged from 9 to 20 years and healthy controls (HC) were enrolled to receive a 3-dose schedule of qHPV vaccine from March/2014 to March/2016. Study visits were performed before the first dose, 1 month after the second and third doses, and 6 months after the third dose. Participants completed a diary of possible adverse events for 14 days following each dose of vaccination (AEFV). Disease activity and current therapy were analyzed at each visit for JDM patients. In addition, serum samples from all participants were collected to test antibody concentrations against HPV16 and 18 at each visit. Participant recruitment was conducted in ten Brazilian centres. From 47 eligible JDM patients and 41 HC, 42 and 35, respectively, completed the 3-dose schedule of the vaccine, given that five JDM patients and two HC had received doses prior to their inclusion in the study. RESULTS: The AEFVs presented by the participants were mild and in general did not differ between JDM and HC groups. No severe AEFVs were related to the vaccination. Disease activity was stable, or even improved during the follow-up. One month after the third dose of the vaccine the JDM group presented seropositivity of 100% for HPV16 and 97% for HPV18, similarly to the HC group, who presented 100% for both serotypes (p = 1.000). Six months after the third dose the seropositivity for the patient group was 94% for both HPV types. CONCLUSIONS: The HPV vaccination in this cohort of JDM patients was safe and immunogenic. Since the seropositivity against HPV16 and 18 was very high after the 3-dose schedule, this regimen should be recommended for JDM patients. TRIAL REGISTRATION: Brazilian Clinical Trials Registry, number: RBR-9ypbtf . Registered 20 March 2018 - Retrospectively registered.
Asunto(s)
Corticoesteroides/uso terapéutico , Dermatomiositis , Inmunogenicidad Vacunal/inmunología , Infecciones por Papillomavirus , Vacunas contra Papillomavirus , Alphapapillomavirus/inmunología , Brasil/epidemiología , Niño , Dermatomiositis/epidemiología , Dermatomiositis/inmunología , Dermatomiositis/terapia , Femenino , Humanos , Huésped Inmunocomprometido/efectos de los fármacos , Evaluación de Procesos y Resultados en Atención de Salud , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/prevención & control , Vacunas contra Papillomavirus/administración & dosificación , Vacunas contra Papillomavirus/efectos adversos , Adulto JovenRESUMEN
Abstract In kidney biopsies reviews, scleroderma renal crisis (SRC) is characterized by vascular endothelial injuries, C4d deposits on peritubular vessels, and acute and chronic injuries coexisting on the same biopsy. The clinical signs of thrombotic microangiopathy (TMA) are described in systemic sclerosis (SSc), nevertheless, it has not been related to acute injuries described on kidney biopsies. We report a case of SRC in a patient with scleroderma-dermatomyositis overlap syndrome, which also showed clinical and histopathological data of TMA. On fundus examination, a severe acute hypertensive retinopathy was found. The kidney biopsy showed severe endothelial damage with widening of mucoid cells at the level of the intima, focal concentric proliferation on most small arterioles, and C3, C4d, and IgM deposits along the capillary walls. The genetic study of complement only showed the presence of membrane cofactor protein (MCP) risk haplotypes, without other genetic complement disorders. We understand that in a patient with TMA and SSc, the kidney damage would be fundamentally endothelial and of an acute type; moreover, we would observe clear evidence of complement activation. Once further studies correlate clinical-analytical data with anatomopathological studies, it is likely that we will be forced to redefine the SRC concept, focusing on the relationship between acute endothelial damage and complement activation.
Resumo Nas revisões de biópsias renais, a crise renal esclerodérmica (CRE) é caracterizada por lesões endoteliais vasculares, depósitos de C4d em vasos peritubulares e lesões agudas e crônicas que coexistem na mesma biópsia. Os sinais clínicos de microangiopatia trombótica (MAT) são descritos na esclerose sistêmica (ES); no entanto, não foram relacionados às lesões agudas descritas nas biópsias renais. Relatamos um caso de CRE em um paciente com síndrome de superposição de esclerodermia-dermatomiosite, que também apresentou dados clínicos e histopatológicos de MAT. No exame de fundo do olho, foi encontrada uma retinopatia hipertensiva aguda grave. A biópsia renal mostrou lesão endotelial grave com alargamento das células mucoides ao nível da íntima, proliferação concêntrica focal na maioria das pequenas arteríolas e depósitos de C3, C4d e IgM ao longo das paredes dos capilares. O estudo genético do complemento mostrou apenas a presença de haplótipos de risco da proteína cofator de membrana (PCM), sem outros distúrbios genéticos do complemento. Entendemos que em um paciente com MAT e ES, o dano renal seria fundamentalmente endotelial e do tipo agudo; além disso, observaríamos evidências claras de ativação do complemento. Uma vez que novos estudos correlacionam dados clínico-analíticos com estudos anatomopatológicos, é provável que sejamos forçados a redefinir o conceito de CRE, enfocando a relação entre dano endotelial agudo e ativação do complemento.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Raynaud/complicaciones , Trastornos de la Visión/etiología , Lesión Renal Aguda/etiología , Riñón/irrigación sanguínea , Capilares/metabolismo , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Inmunohistoquímica , Papiledema/patología , Dermatomiositis/complicaciones , Dermatomiositis/inmunología , Retinopatía Hipertensiva/diagnóstico , Retinopatía Hipertensiva/patología , Retinopatía Hipertensiva/tratamiento farmacológico , Lesión Renal Aguda/diagnóstico , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etiología , Riñón/patología , Riñón/diagnóstico por imagenRESUMEN
A 68-year-old Indian man presented with a pruritic eruption on his neck, back, elbows, knees, and the dorsum of his hands. He was initially treated for possible Lyme's disease by his primary care physician, but without improvement. Then he developed daily chills and fevers up to 101 °F, as well as shortness of breath. A chest radiograph showed patchy airspace opacities suggestive of atypical pneumonia, and the patient was treated with levofloxacin and prednisone. Although prednisone diminished the eruption, the patient continued to experience fever, malaise, and generalized weakness, at which point he was hospitalized. Blood cultures and an antinuclear antibodies (ANA) were negative and extensive lab workup was only notable for an elevated erythrocyte sedimentation rate (ESR) (63 mm/hr, Reference Range 0-22), mild transaminitis (AST 77 U/L, Reference Range 10-40), hyponatremia (131 mEq/L, Reference Range 135-145) and elevated ferritin (440, Reference Range 20-500). The patient was discharged on 20 mg of prednisone, with referral to rheumatology and dermatology for possible autoimmune diseases.
Asunto(s)
Autoanticuerpos/sangre , Dermatomiositis/complicaciones , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Enfermedades Pulmonares Intersticiales/complicaciones , Anciano , Biopsia , Dermatomiositis/patología , Humanos , Masculino , Piel/patologíaRESUMEN
BACKGROUND: To analyze the frequency and clinical relevance of anti-Mi-2 autoantibody in a representative sample of patients with dermatomyositis. METHODS: This longitudinal inception cohort study, from 2001 to 2017, included 87 definite adult dermatomyositis. Anti-Mi-2 analysis was performed using a commercial kit. RESULTS: Seventeen patients (19.5%) had anti-Mi-2 and 70 (80.5%) did not have this autoantibody. The following parameters were equally distributed between the patients with versus without anti-Mi-2: mean age at the disease diagnosis onset, median follow-up time, constitutional symptoms (baseline), cutaneous cumulative lesions, dysphagia, joint and pulmonary involvement. There was also no difference between the groups in relation to follow-up time, disease relapsing, treatment, disease status, deaths and occurrence of neoplasia. In contrast, patients with anti-Mi2 antibodies had higher frequency of elevated serum levels of muscle enzymes at disease onset (median: creatine phosphokinase 6240 [3800-9148] U/L and aldolase 60.0 [35.0-138.0] U/L), lower frequency of pulmonary involvement at disease onset (5.9%), less current glucocorticoid dose (median: 0 [0-10] mg/day), and higher frequency of disease remission during follow-up (58.8%) in comparison with patients without anti-Mi-2 autoantibody (484 [115-4880] and 12.1 [6.3-70.0] U/L, 40.0%, 0 [0-10] mg/day, 27.1%, respectively). CONCLUSION: The anti-Mi-2 autoantibody was found in one fifth of patients with dermatomyositis. This autoantibody was associated with a lower occurrence of pulmonary involvement, a higher frequency of disease in remission, and elevated levels of muscle enzymes. There was also no correlation regarding the frequency of disease relapsing or neoplasia development.
Asunto(s)
Autoanticuerpos/sangre , Dermatomiositis/inmunología , Adulto , Edad de Inicio , Brasil , Estudios de Cohortes , Trastornos de Deglución/etiología , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
In kidney biopsies reviews, scleroderma renal crisis (SRC) is characterized by vascular endothelial injuries, C4d deposits on peritubular vessels, and acute and chronic injuries coexisting on the same biopsy. The clinical signs of thrombotic microangiopathy (TMA) are described in systemic sclerosis (SSc), nevertheless, it has not been related to acute injuries described on kidney biopsies. We report a case of SRC in a patient with scleroderma-dermatomyositis overlap syndrome, which also showed clinical and histopathological data of TMA. On fundus examination, a severe acute hypertensive retinopathy was found. The kidney biopsy showed severe endothelial damage with widening of mucoid cells at the level of the intima, focal concentric proliferation on most small arterioles, and C3, C4d, and IgM deposits along the capillary walls. The genetic study of complement only showed the presence of membrane cofactor protein (MCP) risk haplotypes, without other genetic complement disorders. We understand that in a patient with TMA and SSc, the kidney damage would be fundamentally endothelial and of an acute type; moreover, we would observe clear evidence of complement activation. Once further studies correlate clinical-analytical data with anatomopathological studies, it is likely that we will be forced to redefine the SRC concept, focusing on the relationship between acute endothelial damage and complement activation.
Asunto(s)
Lesión Renal Aguda/etiología , Riñón/irrigación sanguínea , Enfermedad de Raynaud/complicaciones , Trastornos de la Visión/etiología , Lesión Renal Aguda/diagnóstico , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etiología , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Capilares/metabolismo , Dermatomiositis/complicaciones , Dermatomiositis/inmunología , Humanos , Retinopatía Hipertensiva/diagnóstico , Retinopatía Hipertensiva/tratamiento farmacológico , Retinopatía Hipertensiva/patología , Inmunohistoquímica , Riñón/diagnóstico por imagen , Riñón/patología , Masculino , Persona de Mediana Edad , Papiledema/patología , Enfermedad de Raynaud/patología , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/inmunología , Resultado del Tratamiento , Trastornos de la Visión/diagnósticoRESUMEN
OBJECTIVES: To assess serum interleukin (IL)-17A levels in patients with dermatomyositis (DM) and polymyositis (PM) and correlate them with the demographic, clinical, laboratory and therapeutic data of these diseases. METHODS: This was a cross-sectional, single-centre study that included defined DM and PM patients who were age-, gender- and ethnicity-matched to healthy individuals. Serum IL-17A analysis, as well as analysis for other cytokines (IL-6, TNFα and IFNγ), was performed by multiplex immunoassay. The disease status parameters were based on the International Myositis Assessment and Clinical Studies Group (IMACS) set scores. RESULTS: Eighty DM, 32 PM patients and 104 healthy individuals were enrolled. Mean age of patients with DM and PM was 46.0 and 47.7, respectively, with a predominance of women and white ethnicity in both groups. Overall, clinical, laboratory, therapeutic, and current disease status were similar among patients with DM and PM. Median serum IL-17A level was higher in patients with PM and DM than the control group (0.73 vs. 0.49 vs. 0.35 pg/mL, respectively; p<0.050) and higher in PM when compared to DM (p<0.001). In DM, serum IL-17A levels were associated with cumulative cutaneous lesions, IMACS parameters, and serum IL-6 and IFNγ levels. In PM, serum IL-17A levels correlated with patients' current age, IMACS parameters and serum TNFα and IFNγ levels. CONCLUSIONS: Serum IL-17A levels are not only increased, but also associated with disease activity in patients with DM and PM. Our data strongly suggest that IL-17A may be a biomarker of disease activity for these systemic autoimmune myopathies.
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Dermatomiositis , Interleucina-17/sangre , Polimiositis , Adulto , Estudios de Casos y Controles , Estudios Transversales , Citocinas , Dermatomiositis/sangre , Dermatomiositis/inmunología , Femenino , Humanos , Polimiositis/sangre , Polimiositis/inmunología , Índice de Severidad de la EnfermedadRESUMEN
INTRODUCTION: Dermatomyositis is an autoimmune disease and the most common idiopathic inflammatory myopathy. During patient follow-up, determining biochemical parameters is required in order to assess for disease activity and treatment efficacy. OBJECTIVE: To determine the relationship between the degree of activation of the complement system through the soluble membrane attack complex (c5b-9), dermatomyositis clinical activity and its variations with conventional treatment. METHOD: Forty-five patients with active and inactive dermatomyositis were studied. Chemical parameters and clinical severity were established and correlated with ELISA-determined C5b-9 serum levels. RESULTS: There was positive correlation between dermatomyositis cutaneous and muscular activity and C5b-9 serum levels, which was lower than with traditional biochemical markers. In the case of treatment response, C5b-9 showed significant reduction, similar to clinical severity; with biochemical parameters, the reduction was not significant at one month of treatment with systemic steroids. CONCLUSIONS: Serum levels of C5b-9 levels of C5b-9 are higher in patients with dermatomyositis than in healthy subjects; dermatomyositis active and inactive cases were determined by means of their measurement. They can be a reliable parameter of therapeutic response, more accurate than muscle enzymes measurement, particularly creatine phosphokinase.
INTRODUCCIÓN: La dermatomiositis es una enfermedad autoinmune y es la más común de las miopatías inflamatorias idiopáticas. Durante el seguimiento de los pacientes se requiere determinar parámetros bioquímicos para precisar la actividad de la enfermedad y la eficacia de los tratamientos. OBJETIVO: Definir la relación entre el grado de activación del sistema del complemento a través del complejo soluble de ataque a membrana (C5b-9), la actividad clínica de la dermatomiositis y sus variaciones con el tratamiento convencional. MÉTODO: Se estudiaron 45 pacientes con dermatomiositis activa e inactiva. Se establecieron parámetros bioquímicos, severidad clínica y se correlacionaron con los niveles séricos de C5b-9, determinados mediante ELISA. RESULTADOS: Existió correlación positiva entre la actividad cutánea y muscular de la dermatomiositis y los niveles séricos de C5b-9, menor que con los marcadores bioquímicos tradicionales. En la respuesta al tratamiento, C5b-9 mostró reducción significativa, similar a la severidad clínica; con los parámetros bioquímicos, la reducción no fue significativa a un mes de tratamiento con esteroides sistémicos. CONCLUSIONES: Los niveles séricos de C5b-9 en pacientes con dermatomiositis están más elevados que en los sujetos sanos; con su medición se identificaron los casos activos e inactivos de dermatomiositis. Pueden ser un parámetro fiable de respuesta terapéutica, más precisos que la medición de enzimas musculares, particularmente creatinfosfosquinasa.
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Activación de Complemento/inmunología , Complejo de Ataque a Membrana del Sistema Complemento/inmunología , Dermatomiositis/fisiopatología , Adulto , Biomarcadores/metabolismo , Dermatomiositis/tratamiento farmacológico , Dermatomiositis/inmunología , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Esteroides/uso terapéutico , Resultado del TratamientoRESUMEN
Dematomyositis is an idiopathic inflammatory myopathy with a variable clinical spectrum. In recent years, a number of myositis-specific antibodies have been identified including anti-MDA5, which is us eful for diagnosis, prognosis and classification of the diverse clinical forms of the disease. This antibody is associated with cutaneous ulcers, rapidly progressive interstitial lung disease, early mortality and poor prognosis, so the detection of this antibody in a suitable clinical context, raises the need for an aggressive immunosuppressive treatment. We describe a case of dermatomyositis classified as hypomyopathic (i.e. involving mild muscle weakness), presenting specific skin lesions, interstitial lung disease, and presence of anti-MDA5 antibody that had a favorable response to combined treatment with cyclophosphamide, gamma globulin and corticosteroids.
Asunto(s)
Autoanticuerpos/inmunología , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Enfermedades Pulmonares Intersticiales/inmunología , Adulto , Biopsia , Dermatomiositis/diagnóstico , Dermatomiositis/patología , Femenino , Humanos , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/patología , Pronóstico , Tomografía Computarizada por Rayos XRESUMEN
La dematomiositis es una miopatía inflamatoria idiopática con espectro clínico variable. En los últimos años se ha identificado un número de autoanticuerpos específicos de miositis útiles para el diagnóstico, la clasificación y el pronóstico de las diversas formas de la enfermedad, entre los que se encuentra el anti-MDA5. Este anticuerpo se asocia al desarrollo de úlceras cutáneas, enfermedad intersticial pulmonar rápidamente progresiva, mortalidad temprana y mal pronóstico por lo que la detección del mismo, en un contexto clínico adecuado, plantea la necesidad de un tratamiento inmunosupresor agresivo. Describimos un caso de dermatomiositis hipomiopática, (es decir, con afección muscular leve) que presentaba compromiso cutáneo específico, enfermedad pulmonar intersticial y anticuerpo anti-MDA5 que respondió favorablemente al tratamiento combinado con ciclofosfamida, gamaglobulina y corticoides.
Dematomyositis is an idiopathic inflammatory myopathy with a variable clinical spectrum. In recent years, a number of myositis-specific antibodies have been identified including anti-MDA5, which is us eful for diagnosis, prognosis and classification of the diverse clinical forms of the disease. This antibody is associated with cutaneous ulcers, rapidly progressive interstitial lung disease, early mortality and poor prognosis, so the detection of this antibody in a suitable clinical context, raises the need for an aggressive immunosuppressive treatment. We describe a case of dermatomyositis classified as hypomyopathic (i.e. involving mild muscle weakness), presenting specific skin lesions, interstitial lung disease, and presence of anti-MDA5 antibody that had a favorable response to combined treatment with cyclophosphamide, gamma globulin and corticosteroids.
Asunto(s)
Humanos , Femenino , Adulto , Autoanticuerpos/inmunología , Enfermedades Pulmonares Intersticiales/inmunología , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Pronóstico , Biopsia , Tomografía Computarizada por Rayos X , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/patología , Dermatomiositis/diagnóstico , Dermatomiositis/patologíaRESUMEN
BACKGROUND: There have been no studies to date on the frequency and reactivity of aanti-melanoma differentiation-associated gene 5 (anti-MDA-5) in samples from the Brazilian population with dermatomyositis. OBJECTIVES: To analyze this autoantibody in the Brazilian population. METHODS: This was a single-center cross-sectional study in which 131 consecutive adult patients (109 dermatomyositis and 22 clinically amyopathic dermatomyositis) with active disease were evaluated from 2000 to 2016. Analysis of the anti-MDA-5 autoantibody was performed by ELISA. RESULTS: The presence of this autoantibody was observed in 14.7% and 22.7% of patients with dermatomyositis and clinically amyopathic dermatomyositis, respectively. In the case of dermatomyositis, the autoantibody was associated less frequently with Raynaud's phenomenon and periungual hyperemia (P<0.05). In clinically amyopathic dermatomyositis, the presence of this autoantibody was not associated statistically with any demographic, clinical, laboratory, or imaging characteristics. STUDY LIMITATIONS: The cross-sectional study design did not allow establishing a temporal correlation between anti-MDA-5 autoantibody and various study variables. In addition, pulmonary function tests were not performed in the patients. CONCLUSIONS: The frequency of anti-MDA-5 autoantibody was comparable to that of other populations with dermatomyositis, but with a different reactivity than described in the literature. In addition, there was a phenotypic variability between our patients with clinically amyopathic dermatomyositis and those described in the literature. Further studies are needed to confirm the current study's findings and elucidate this autoantibody's reactivity in Brazilians with idiopathic inflammatory myopathies.
Asunto(s)
Autoanticuerpos/sangre , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Adulto , Autoanticuerpos/inmunología , Estudios Transversales , Dermatomiositis/sangre , Dermatomiositis/complicaciones , Progresión de la Enfermedad , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Helicasa Inducida por Interferón IFIH1/sangre , Masculino , Índice de Severidad de la Enfermedad , Estadísticas no ParamétricasRESUMEN
Abstract: Background: There have been no studies to date on the frequency and reactivity of aanti-melanoma differentiation-associated gene 5 (anti-MDA-5) in samples from the Brazilian population with dermatomyositis. Objectives: To analyze this autoantibody in the Brazilian population. Methods: This was a single-center cross-sectional study in which 131 consecutive adult patients (109 dermatomyositis and 22 clinically amyopathic dermatomyositis) with active disease were evaluated from 2000 to 2016. Analysis of the anti-MDA-5 autoantibody was performed by ELISA. Results: The presence of this autoantibody was observed in 14.7% and 22.7% of patients with dermatomyositis and clinically amyopathic dermatomyositis, respectively. In the case of dermatomyositis, the autoantibody was associated less frequently with Raynaud's phenomenon and periungual hyperemia (P<0.05). In clinically amyopathic dermatomyositis, the presence of this autoantibody was not associated statistically with any demographic, clinical, laboratory, or imaging characteristics. Study limitations: The cross-sectional study design did not allow establishing a temporal correlation between anti-MDA-5 autoantibody and various study variables. In addition, pulmonary function tests were not performed in the patients. Conclusions: The frequency of anti-MDA-5 autoantibody was comparable to that of other populations with dermatomyositis, but with a different reactivity than described in the literature. In addition, there was a phenotypic variability between our patients with clinically amyopathic dermatomyositis and those described in the literature. Further studies are needed to confirm the current study's findings and elucidate this autoantibody's reactivity in Brazilians with idiopathic inflammatory myopathies.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Autoanticuerpos/sangre , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Autoanticuerpos/inmunología , Índice de Severidad de la Enfermedad , Ensayo de Inmunoadsorción Enzimática , Estudios Transversales , Estadísticas no Paramétricas , Progresión de la Enfermedad , Dermatomiositis/complicaciones , Dermatomiositis/sangre , Helicasa Inducida por Interferón IFIH1/sangreAsunto(s)
Autoanticuerpos/inmunología , Dermatomiositis/inmunología , Adulto , Edad de Inicio , Biomarcadores/metabolismo , Niño , Dermatomiositis/epidemiología , Dermatomiositis/fisiopatología , Dermatomiositis/terapia , Progresión de la Enfermedad , Femenino , Heterogeneidad Genética , Humanos , Células Asesinas Naturales/inmunología , MasculinoRESUMEN
BACKGROUND: Different inflammatory cells (i.e., CD4, CD8, CD20 and CD68) are involved in pathogenesis of DM muscle. In this context, the aim of this study was to assess and compare these inflammatory cell phenotyping in muscle samples of treatment naive juvenile and adult patients with dermatomyositis. METHODS: This is a cross-sectional study, in which 28 untreated juvenile and 28 adult untreated dermatomyositis patients were included. Immunohistochemical analysis was performed on serial frozen muscle sections. Inflammatory cell phenotyping was analyzed quantitatively in endomysium, perimysium, and perivascular (endomysium and perimysium) area. RESULTS: Mean age at disease onset was 7.3 and 42.0 years in juvenile and adult dermatomyositis, respectively. Both groups had comparable time duration from symptom's onset to biopsy performance. CD4 and CD8 positive cells distributions were similar in both groups in all analyzed area, except for more predominance of CD4 in perimysium at juvenile muscle biopsies. The CD20 and CD68 positive cells were predominantly observed in adult muscle biopsy sections, when compared to juvenile samples, except for similar distribution of CD20 in perivascular endomysium, and CD68 in perimysium. CONCLUSIONS: These data show that the differences between juvenile and adult dermatomyositis may be restricted not only to patients' age, but also to different inflammatory cell distribution, particularly, in new-onset disease. Further studies are necessary to confirm the present study data and to analyze meaning of the different inflammatory cell phenotyping distribution finding in these both diseases.
Asunto(s)
Dermatomiositis/patología , Músculo Esquelético/patología , Adulto , Factores de Edad , Edad de Inicio , Antígenos CD/análisis , Antígenos CD20/análisis , Antígenos de Diferenciación Mielomonocítica/análisis , Biopsia , Linfocitos T CD4-Positivos/citología , Linfocitos T CD8-positivos/citología , Niño , Estudios Transversales , Dermatomiositis/inmunología , Femenino , Secciones por Congelación , Humanos , Inmunohistoquímica , Masculino , Músculo Esquelético/inmunología , FenotipoRESUMEN
The idiopathic inflammatory myopathies(IIM) are a heterogeneous group of diseases of the skeletal muscle. On the basis of clinical, serologic and histological differences, they are classified in dermatomyositis (DM), polymyositis (PM), inclusion body myositis and immunomediated necrotizing myopathy. Autoantibodies directed against nuclear and cytoplasmic antigens are present with variable frequencies among studies. Myositis-specific antibodies (MSAs) are useful in IIM because they contribute to the diagnosis, help to identify different clinical subsets, and have prognostic value. This study aimed to explore the frequency of autoantibodies, especially MSAs, and their relationship with clinical features in adult patients with DM, PM and overlap syndrome. Medical records were reviewed. Myositis-associated antibodies (non-specific) and MSAs (anti Jo-1, PL-7, PL-12, Mi-2 and SRP) were measured using commercial kits. Twelve patients had MSAs, an overall frequency similar to those of international series, but PL-12 and Mi-2 were more frequent than Jo-1, which is the most frequently observed elsewhere. All five patients with Mi-2 had classical DM with a favorable response to treatment. Interstitial pneumonia (n: 4) and/or treatment-refractory disease (n: 3) were found in the presence of anti-PL-12, alone or associated with anti-SRP and/or Jo-1. In conclusion, the coexistence of AEM, a rare finding, was found in three patients. The presence of MSAs aided to the diagnosis of IIM, in particular in those patients without available or conclusive biopsy results.
Asunto(s)
Autoanticuerpos/análisis , Enfermedades Autoinmunes/inmunología , Dermatomiositis/inmunología , Polimiositis/inmunología , Adulto , Anciano , Argentina , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/patología , Biopsia , Dermatomiositis/diagnóstico , Dermatomiositis/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/inmunología , Músculo Esquelético/patología , Polimiositis/diagnóstico , Polimiositis/patología , Valores de ReferenciaRESUMEN
The idiopathic inflammatory myopathies(IIM) are a heterogeneous group of diseases of the skeletal muscle. On the basis of clinical, serologic and histological differences, they are classified in dermatomyositis (DM), polymyositis (PM), inclusion body myositis and immunomediated necrotizing myopathy. Autoantibodies directed against nuclear and cytoplasmic antigens are present with variable frequencies among studies. Myositis-specific antibodies (MSAs) are useful in IIM because they contribute to the diagnosis, help to identify different clinical subsets, and have prognostic value. This study aimed to explore the frequency of autoantibodies, especially MSAs, and their relationship with clinical features in adult patients with DM, PM and overlap syndrome. Medical records were reviewed. Myositis-associated antibodies (non-specific) and MSAs (anti Jo-1, PL-7, PL-12, Mi-2 and SRP) were measured using commercial kits. Twelve patients had MSAs, an overall frequency similar to those of international series, but PL-12 and Mi-2 were more frequent than Jo-1, which is the most frequently observed elsewhere. All five patients with Mi-2 had classical DM with a favorable response to treatment. Interstitial pneumonia (n: 4) and/or treatment-refractory disease (n: 3) were found in the presence of anti-PL-12, alone or associated with anti-SRP and/or Jo-1. In conclusion, the coexistence of AEM, a rare finding, was found in three patients. The presence of MSAs aided to the diagnosis of IIM, in particular in those patients without available or conclusive biopsy results.
Las miopatías inflamatorias idiopáticas (MII) comprenden un grupo heterogéneo de enfermedades adquiridas del músculo esquelético. Según sus características clínicas, serológicas e histológicas se las clasifica en dermatomiositis (DM), polimiositis (PM), miopatía necrotizante autoinmune y miositis por cuerpos de inclusión. Los anticuerpos específicos de miositis (AEMs) contribuyen al diagnóstico, permiten distinguir formas clínicas y tienen valor pronóstico. Con el objetivo de explorar la frecuencia de autoanticuerpos, en particular AEMs, y su relación con las características clínicas de las MII del adulto, se revisaron las historias clínicas de 25 pacientes con DM, PM y síndromes de superposición, asistidos en nuestro centro entre 1999 y 2013. La presencia de autoanticuerpos asociados a miositis (no específicos) y AEMs (anti Jo-1, PL-7, PL-12, Mi-2, SRP) se investigó utilizando kits comerciales. Doce pacientes presentaron AEMs, frecuencia global similar a la encontrada en series internacionales, pero a diferencia de lo observado en otros países, anti-PL-12 y anti-Mi-2 fueron más frecuentes que anti-Jo-1. Los cinco pacientes con anti-Mi-2 tuvieron DM clásica y buena evolución clínica. Anti-PL-12, ya sea solo o asociado a anti-SRP y/o anti-Jo-1, estuvo presente en pacientes con neumonía intersticial (n:4) y/o enfermedad refractaria al tratamiento (n: 3). En conclusión, la coexistencia de AEM, hallazgo raro, se encontró en tres pacientes. La presencia de AEMSs contribuyó al diagnóstico de MII, en particular en aquellos casos sin resultados concluyentes de biopsia de músculo.