Quick response to rituximab in a patient with Ro52-Jo1 complex-associated antisynthetase syndrome debuting with rapidly progressive interstitial lung disease and diffuse alveolar haemorrhage / Rápida respuesta a rituximab en un paciente con síndrome antisintetasa asociado a anti-Ro52-Jo1 que debuta con enfermedad intersticial rápidamente progresiva y hemorragia alveolar difusa

Antisynthetase syndrome (AAS) is an inflammatory myopathy that may debut with interstitial lung disease (ILD). A few studies show cases in which patients with high concentrations of anti-Ro52 in patients with ILD might achieve a better response if treated with rituximab than other patients with ILD and Ro-52 whose levels are lower. We present a patient with lung involvement as the first and unique manifestation of AAS with anti-Jo and anti-Ro52-positive antibodies. The ILD was rapid and progressive and led him into the intensive care unit in a matter of days, despite several immunosuppressive treatments. As soon as the patient received this treatment, he experienced an improvement. We therefore suggest the prompt determination of anti-Ro52 antibody concentrations in this subgroup of patients, which would offer a therapeutic approach based first on rituximab over other immunosuppressive treatments (AU)

El síndrome antisintetasa (SA) es una miopatía inflamatoria que puede debutar en forma de enfermedad pulmonar intersticial (EPI). Algunos estudios muestran casos de pacientes con EPI secundaria a miopatía inflamatoria y positividad de anti-Ro52 a altas concentraciones que presentan mejor respuesta a rituximab que pacientes similares con positividad de anti-Ro52 a bajas concentraciones. Presentamos un paciente con enfermedad intersticial como primera y única manifestación de SA y con positividad para anti-Ro52 a concentraciones altas y anti-Jo1. La EPI fue rápida y progresiva, conduciéndole a ingreso en la unidad de cuidados intensivos e intubación orotraqueal a pesar de varios tratamientos inmunosupresores. Solo experimentó mejoría cuando se inició rituximab. Por ello, proponemos medir los títulos del anticuerpo contra Ro-52 en todos los pacientes con EPI secundaria a SA y positividad de anti-Ro52, y si se evidencian valores altos decidir rituximab como tratamiento de primera línea antes que otras terapias inmunosupresoras (AU)

Caracterización clínico-radiológica de pacientes con enfermedad pulmonar intersticial y panel de miositis positivo en hospital Santiago Oriente / Clinical-radiological characterization of patients with interstitial lung disease and positive myositis panel at hospital Santiago Oriente

Introducción: Las Enfermedades Pulmonares Intersticiales (EPI) afectan principalmente al intersticio pulmonar, con importante morbimortalidad asociada. Tienen un espectro de posibles etiologías que es cada vez más amplio. Hay una importante causalidad a partir de Enfermedades del Tejido Conectivo (ETC), describiéndose cada vez más casos asociados a Síndrome Antisintetasa, y con diversos patrones radiológicos según serología obtenida, agrupada en "Panel de Miositis" (PaM). El presente estudio de cohorte retrospectiva reúne PaMs realizados en el Hospital Santiago Oriente, correlacionando resultados con manifestaciones clínicas e imagenológicas. Material y Métodos: Se recuperaron 33 PaMs realizados entre 2017 y 2022, y a través de revisión de fichas de los pacientes de quienes provenían las PaMs se consignaron las principales manifestaciones clínicas, imagenológicas y de la serología reumatológica complementaria, estableciendo correlaciones entre múltiples variables. Resultados: Hubo 15 pacientes PaM positivos (45,4%), 8 de ellos (53%) ya contaban con alguna miopatía inflamatoria diagnosticada. Los principales hallazgos clínicos consignados fueron pápulas de Gottron, artritis, eritema heliotropo, Fenómeno de Raynaud y fiebre. El anticuerpo positivo más frecuente fue Ro-52. Se pudo objetivar ANA positivo en 10 casos (66,7%). Se identificó EPI en 66,7% de aquellos con PaM positivo, siendo la Neumonía Intersticial no específica fibrótica con Neumonía en Organización la manifestación más frecuente. No hubo asociación significativa entre manifestaciones imagenológicas y anticuerpos específicos. Se encontró ANA 1/80 en 66,7% de los casos, lo cual no se asoció a mayor riesgo de EPI. Conclusiones: Existe asociación entre varias ETC y las EPI. Destaca la importancia de los hallazgos clínicos para establecer un adecuado índice de sospecha, para dirigir oportunamente el estudio complementario (ej: PaM), y la eventual terapia específica.

Introduction: Interstitial Lung Diseases (ILD) mainly affect the pulmonary interstitium, with significant associated morbidity and mortality. They have a spectrum of possible etiologies that is increasingly broad. There is an important causality from Connective Tissue Diseases (CTD), describing more and more cases associated with Antisynthetase Syndrome, and with different radiological patterns according to the serology obtained, enclosed into "Panel of Myositis" (PaM). This retrospective cohort study gathers PaMs performed at Hospital Santiago Oriente, PaM results are correlated with clinical and imaging manifestations. Material and Methods: 33 PaMs performed between 2017 and 2022 were saved up and by reviewing the clinical records of the patients from whom the PaMs came, their clinical and radiological manifestations and the results of their complementary rheumatological serology were recorded to establish correlations between multiple variables. Results: There were 15 positive PaMs (45.4%), 8 (53%) of them already had some diagnosed inflammatory myopathy. The main clinical findings reported were Gottron's papules, arthritis, heliotrope erythema, Raynaud's phenomenon, and fever. The most frequent positive antibody detected was Ro-52. Positive ANA could be found in 10 cases (66.7%). PID was identified in 66.7% of those with a positive PaM, being non-specific fibrotic Interstitial Pneumonia with Organizing Pneumonia being the most frequent manifestation. There was no significant association between imaging manifestations and specific antibodies. ANA 1/80 was found in 6.7% of the cases, which was not associated with an increased risk of PID. Conclusions: There is association between several CTEs and EPIs. It is necessary to highlight the importance of the clinical findings to establish an adequate index of suspicion, in order to timely direct the complementary study (eg: PaM), and the eventual specific therapy.

Organizing pneumonia due to anti-synthetase syndrome: Presentation of a clinical case

Introduction: Organizing pneumonia is a rare clinico-pathological syndrome. This crypto-genic or secondary condition is of unknown origin, and may be infectious, or associated with autoimmune diseases, cancer, drugs, or radiation. Case description: The case is presented of a 52-year-old patient who was diagnosed with organizing pneumonia secondary to anti-synthetase syndrome. Discussion: It is intended to make known that not all pulmonary consolidative clinical pictures correspond to infectious processes. In this case, an organizing pneumonia secondary to anti-synthetase syndrome is documented. Despite being a disorder that is classified as an idiopathic inflammatory myopathy, it manifests as an interstitial lung disease with predominantly respiratory symptoms.

Introducción: La neumonía organizativa es un síndrome clínico-patológico poco frecuente, dentro del cual se desconoce la etiología de la denominada neumonía criptogénica o secundaria, que puede ser infecciosa o asociada con enfermedades autoinmunes, cáncer, fármacos o radiación. Descripción del caso: Se presenta el caso de una paciente de 52 arios a quien se le diagnostica neumonía organizativa secundaria a síndrome antisintetasa. Discusión: Se busca dar a conocer que no todos los cuadros clínicos de consolidación pulmonar corresponden a procesos infecciosos. En este caso se documentó una neumonía organizativa secundaria a síndrome antisintetasa, la cual a pesar de ser una patología que se cataloga como una miopatía inflamatoria idiopática, se manifestó como una enfermedad pulmonar intersticial con síntomas predominantemente respiratorios.

Myositis-associated Interstitial Lung Disease: Clinical Characteristics and Factors Related to Pulmonary Function Improvement: A Latin-American Multicenter Cohort Study.

BACKGROUND AND OBJECTIVES: ILD patients can be positive to highly specific autoantibodies of connective tissue diseases (CTD). Among them stand out myositis-specific and associated autoantibodies (MSA/MAA). There is limited knowledge about treatment response and prognosis of ILD patients positive to MSA/MAA (MSA/MAA-ILD). Our aim was to describe clinical, radiological and pulmonary function (PF) of MSA/MAA-ILD Latin-American patients and risk factors associated to PF at onset and long term follow up. METHODS: Multicentric retrospective study of MSA/MAA-ILD patients evaluated between 2016 and 2018 in 3 ILD clinics in Latin America. Clinical, functional and tomographic variables were described. Variables associated with poor baseline PF and associated with functional improvement (FI) were analyzed in a multivariate logistic regression model. RESULTS: We included 211 patients, 77.4% female, mean age 57 years old. Most frequent MSA/MAA were Ro-52 and Jo-1. Poor baseline PF was associated to ILD as initial diagnosis and NSIP/OP HRCT pattern. 121 patients were included in the follow up PF analysis: 48.8% remained stable and 33% had a significant FI. In multivariate analysis, OP pattern on HRCT was associated with FI. Systemic symptoms from the beginning and the absence of sclerodactyly showed a trend to be associated with FI. CONCLUSIONS: Worse baseline PF could be related to the absence of extra-thoracic symptoms and "classic" antibodies in CTD (ANA), which causes delay in diagnosis and treatment. In contrast, FI could be related to the presence of extra-thoracic signs that allow timely diagnosis and therapy, and more acute and subacute forms of ILD, such as OP pattern.

Myositis-associated Interstitial Lung Disease: Clinical Characteristics and Factors Related to Pulmonary Function Improvement: A Latin-American Multicenter Cohort Study / Enfermedad pulmonar intersticial asociada con miositis: Características clínicas y factores relacionados con la mejoría de la función pulmonar. Estudio latinoamericano multicéntrico de cohorte

Background and objectives: ILD patients can be positive to highly specific autoantibodies of connective tissue diseases (CTD). Among them stand out myositis-specific and associated autoantibodies (MSA/MAA). There is limited knowledge about treatment response and prognosis of ILD patients positive to MSA/MAA (MSA/MAA-ILD). Our aim was to describe clinical, radiological and pulmonary function (PF) of MSA/MAA-ILD Latin-American patients and risk factors associated to PF at onset and long term follow up. Methods: Multicentric retrospective study of MSA/MAA-ILD patients evaluated between 2016 and 2018 in 3 ILD clinics in Latin America. Clinical, functional and tomographic variables were described. Variables associated with poor baseline PF and associated with functional improvement (FI) were analyzed in a multivariate logistic regression model. Results: We included 211 patients, 77.4% female, mean age 57 years old. Most frequent MSA/MAA were Ro-52 and Jo-1. Poor baseline PF was associated to ILD as initial diagnosis and NSIP/OP HRCT pattern. 121 patients were included in the follow up PF analysis: 48.8% remained stable and 33% had a significant FI. In multivariate analysis, OP pattern on HRCT was associated with FI. Systemic symptoms from the beginning and the absence of sclerodactyly showed a trend to be associated with FI. Conclusions: Worse baseline PF could be related to the absence of extra-thoracic symptoms and “classic” antibodies in CTD (ANA), which causes delay in diagnosis and treatment. In contrast, FI could be related to the presence of extra-thoracic signs that allow timely diagnosis and therapy, and more acute and subacute forms of ILD, such as OP pattern.(AU)

Antecedentes y objetivos: Los pacientes con enfermedad pulmonar intersticial (EPI) pueden presentar positividad para autoanticuerpos específicos de enfermedades autoinmunes, como los anticuerpos mioespecíficos (AME) o mioasociados (AMA). Existe escasa información disponible sobre pronóstico y respuesta al tratamiento de estos pacientes. Nuestro objetivo fue describir las características clínicas, radiológicas, funcionales y pronósticas de una cohorte latinoamericana de pacientes con EPI y AME/AMA. Métodos: Estudio retrospectivo multicéntrico de una cohorte pacientes con EPI y AME/AMA, evaluados en tres centros latinoamericanos entre 2016 y 2018. Describimos variables clínicas, tomográficas y funcionales. Analizamos variables asociadas con valores funcionales bajos al inicio y mejoría funcional mediante regresión logística. Resultados: Incluimos 211 pacientes, 77,4% mujeres, con una media de edad de 57 años. Los anticuerpos más frecuentes fueron Ro-52 y Jo-1. Valores funcionales bajos al inicio se asociaron con la presencia de EPI desde el debut y con un patrón de neumonía intersticial no específica (NINE)/neumonía organizativa (NO) en la tomografía computarizada de alta resolución (TACAR). Se analizó la evolución funcional en 121 pacientes: 48% permanecieron estables y 33% presentaron mejoría. El patrón de NO en TACAR, se asoció significativamente con mejoría funcional, mientras que la presencia de EPI desde el debut y la ausencia de esclerodactilia mostraron una tendencia en el análisis multivariado. Conclusiones: Valores funcionales bajos al debut podrían asociarse con la ausencia de síntomas extratorácicos al inicio, por llevar a un diagnóstico y tratamiento tardíos. Por el contrario, la presencia de síntomas sistémicos al debut, junto con formas más agudas de EPI como NINE/NO podrían asociarse con mejoría funcional por permitir un diagnóstico y tratamiento precoz.(AU)

Síndrome antisintetasa: reporte de un caso / Antisynthetase syndrome: a case report

El síndrome antisintetasa es una miopatía inflamatoria idiopática (MII) de origen autoinmune, poco frecuente, que se caracteriza por la presencia de autoanticuerpos antisintetasa ARNt (generalmente anti-Jo1), asociado frecuentemente a miositis, enfermedad pulmonar intersticial, poliartritis, manos de mecánico y fenómeno de Raynaud. Se reporta el caso de una mujer de 45 años de edad que presenta este síndrome con características fenotípicas de dermatomiositis y responde de forma favorable luego de la administración del tratamiento con glucocorticoides asociado a metotrexato.

Anti-synthetase syndrome is a rare autoimmune inflammatory myopathy characterized by autoantibodies against tRNA synthetases (most commonly anti-Jo1) with clinical features that include myositis, interstitial lung disease, polyarthritis, mechanic's hands and Raynaud's phenomenon. We report a 45-year-old woman who presented with dermatomyositis phenotypical features and a significant improvement with corticosteroids and metotrexate treatment.

Síndrome antisintetasa: reporte de un caso / Antisynthetase syndrome: a case repor

El síndrome antisintetasa es una miopatía inflamatoria idiopática (MII) de origen autoinmune, poco frecuente, que se caracteriza por la presencia de autoanticuerpos antisintetasa ARNt (generalmente anti-Jo1), asociado frecuentemente a miositis, enfermedad pulmonar intersticial, poliartritis, manos de mecánico y fenómeno de Raynaud. Se reporta el caso de una mujer de 45 años de edad que presenta este síndrome con características fenotípicas de dermatomiositis y responde de forma favorable luego de la administración del tratamiento con glucocorticoides asociado a metotrexato.

Anti-synthetase syndrome is a rare autoimmune inflammatory myopathy characterized by autoantibodies against tRNA synthetases (most commonly anti-Jo1) with clinical features that include myositis, interstitial lung disease, polyarthritis, mechanic's hands and Raynaud's phenomenon. We report a 45-year-old woman who presented with dermatomyositis phenotypical features and a significant improvement with corticosteroids and metotrexate treatment.

Autoantibodies to extractable nuclear antigens (ENAs) pattern in rheumatoid arthritis patients: Relevance and clinical implications / Patrón de autoanticuerpos contra antígenos nucleares extraíbles (ENA) en pacientes con artritis reumatoide: relevancia e implicaciones clínicas

Objectives: To study the frequency of different autoantibodies to extractable nuclear antigens (ENAs) in rheumatoid arthritis (RA) patients and to correlate findings with clinical manifestations, disease activity and radiological damage. Methods: A total of 230 RA patients were included and 75 healthy controls. In all patients rheumatological assessment was done and routine laboratory investigations and immune profile were performed in both patients and controls, including: RF, ACPA, ANA and anti-ENAs (Ro/SSA, La/SSB, U1-RNP, anti-Jo-1 and anti-Sm). Radiological damage was scored using Sharp/van der Heijde, and disease activity was evaluated by DAS28-ESR and DAS28-CRP. Results: RF was positive in 101 (43.9%), ACPA in 220 (95.7%), ANA in 58 (25.2%), anti Ro in 31 (13.5%), anti-La in 10 (4.3%), anti-Jo1 in 5 (2.2%) and anti-RNP in 2 (0.9%). Anti-Ro/SSA positively correlated with sicca symptoms (p=.02), RF titer (p<.001), ANA (p<.001), DAS28-ESR (p=.026), and DAS28-CRP (p=.003). Anti-La antibodies correlated positively with SJC (p=.001), TJC (p=.001), ANA (p<.001), DAS-28 ESR (p=.007). Anti-Jo-1 correlated positively with interstitial lung disease (ILD) (p≤.001), RF titer (p=.037) and ANA (p≤.001). Anti-RNP antibodies correlated positively with disease duration (p≤.001), ACPA titer (p≤.001) and ANA (p=.014). In the controls ANA was positive in two (2.7%), anti-Ro in three (4%), and none of the controls tested positive for other autoantibodies. Conclusions: In RA patients, positive ANA is frequent and positively associated with anti-Ro, anti-La and anti-Jo1 autoantibodies. Screening for autoantibodies against other anti-ENAs seems mandatory in RA patients especially when ANA is positive. RA cases with positive Anti-Jo-1 may develop anti synthetase syndrome and ILD.(AU)

Objetivos: Estudiar la frecuencia de diferentes autoanticuerpos frente a antígenos nucleares extraíbles (ENA) en pacientes con artritis reumatoide (AR) y relacionar los hallazgos con las manifestaciones clínicas, la actividad de la enfermedad y el daño radiológico. Métodos: Se incluyeron un total de 230 pacientes con AR y 75 controles sanos. En todos los pacientes, la evaluación reumatológica, las investigaciones de laboratorio de rutina y el perfil inmune se realizaron tanto en pacientes como en controles, incluidos: RF, ACPA, ANA y anti-ENA (Ro/SSA, La/SSB, U1-RNP, anti-Jo-1 y anti-sm). El daño radiológico se puntuó con Sharp/van der Heijde y la actividad de la enfermedad se evaluó mediante DAS28-ESR y DAS28-CRP. Resultados: La RF fue positiva en 101 (43.9%), ACPA en 220 (95.7%), ANA en 58 (25.2%), anti Ro en 31 (13.5%), anti-La en 10 (4.3%), anti-Jo1 en 5 (2,2%) y anti-RNP en 2 (0,9%). Anti-Ro/SSA se correlacionó positivamente con los síntomas de sicca (p=.02), el título de RF (p<.001), ANA (p<.001), DAS28-ESR (p=.026) y DAS28-CRP (p=.003). Los anticuerpos anti-La se correlacionaron positivamente con SJC (p=.001), TJC (p=.001), ANA (p<.001), DAS-28 ESR (p=.007). El anti-Jo-1 se correlacionó positivamente con la enfermedad pulmonar intersticial (EPI) (p≤0,001), título de RF (p=0,037) y ANA (p≤0,001). Los anticuerpos anti-RNP se correlacionaron positivamente con la duración de la enfermedad (p≤0,001), el título de ACPA (p≤0,001) y ANA (p=0,014). En los controles, ANA fue positivo en dos (2.7%), anti-Ro en tres (4%) y ninguno de los controles dio positivo para otros autoanticuerpos. Conclusiones: En pacientes con AR, el ANA positivo es frecuente y se asocia positivamente con autoanticuerpos anti-Ro, anti-La y anti-Jo1. La detección de autoanticuerpos contra otros anti-ENA parece obligatoria en los pacientes con AR, especialmente cuando la ANA es positiva. Los casos de AR con Anti-Jo-1 positivo pueden desarrollar el síndrome de sintetasa e ILD.(AU)

Myositis-associated Interstitial Lung Disease: Clinical Characteristics and Factors Related to Pulmonary Function Improvement: A Latin-American Multicenter Cohort Study.

BACKGROUND AND OBJECTIVES: ILD patients can be positive to highly specific autoantibodies of connective tissue diseases (CTD). Among them stand out myositis-specific and associated autoantibodies (MSA/MAA). There is limited knowledge about treatment response and prognosis of ILD patients positive to MSA/MAA (MSA/MAA-ILD). Our aim was to describe clinical, radiological and pulmonary function (PF) of MSA/MAA-ILD Latin-American patients and risk factors associated to PF at onset and long term follow up. METHODS: Multicentric retrospective study of MSA/MAA-ILD patients evaluated between 2016 and 2018 in 3 ILD clinics in Latin America. Clinical, functional and tomographic variables were described. Variables associated with poor baseline PF and associated with functional improvement (FI) were analyzed in a multivariate logistic regression model. RESULTS: We included 211 patients, 77.4% female, mean age 57 years old. Most frequent MSA/MAA were Ro-52 and Jo-1. Poor baseline PF was associated to ILD as initial diagnosis and NSIP/OP HRCT pattern. 121 patients were included in the follow up PF analysis: 48.8% remained stable and 33% had a significant FI. In multivariate analysis, OP pattern on HRCT was associated with FI. Systemic symptoms from the beginning and the absence of sclerodactyly showed a trend to be associated with FI. CONCLUSIONS: Worse baseline PF could be related to the absence of extra-thoracic symptoms and "classic" antibodies in CTD (ANA), which causes delay in diagnosis and treatment. In contrast, FI could be related to the presence of extra-thoracic signs that allow timely diagnosis and therapy, and more acute and subacute forms of ILD, such as OP pattern.

Autoantibodies to extractable nuclear antigens (ENAs) pattern in rheumatoid arthritis patients: Relevance and clinical implications.

OBJECTIVES: To study the frequency of different autoantibodies to extractable nuclear antigens (ENAs) in rheumatoid arthritis (RA) patients and to correlate findings with clinical manifestations, disease activity and radiological damage. METHODS: A total of 230 RA patients were included and 75 healthy controls. In all patients rheumatological assessment was done and routine laboratory investigations and immune profile were performed in both patients and controls, including: RF, ACPA, ANA and anti-ENAs (Ro/SSA, La/SSB, U1-RNP, anti-Jo-1 and anti-Sm). Radiological damage was scored using Sharp/van der Heijde, and disease activity was evaluated by DAS28-ESR and DAS28-CRP. RESULTS: RF was positive in 101 (43.9%), ACPA in 220 (95.7%), ANA in 58 (25.2%), anti Ro in 31 (13.5%), anti-La in 10 (4.3%), anti-Jo1 in 5 (2.2%) and anti-RNP in 2 (0.9%). Anti-Ro/SSA positively correlated with sicca symptoms (p=.02), RF titer (p<.001), ANA (p<.001), DAS28-ESR (p=.026), and DAS28-CRP (p=.003). Anti-La antibodies correlated positively with SJC (p=.001), TJC (p=.001), ANA (p<.001), DAS-28 ESR (p=.007). Anti-Jo-1 correlated positively with interstitial lung disease (ILD) (p≤.001), RF titer (p=.037) and ANA (p≤.001). Anti-RNP antibodies correlated positively with disease duration (p≤.001), ACPA titer (p≤.001) and ANA (p=.014). In the controls ANA was positive in two (2.7%), anti-Ro in three (4%), and none of the controls tested positive for other autoantibodies. CONCLUSIONS: In RA patients, positive ANA is frequent and positively associated with anti-Ro, anti-La and anti-Jo1 autoantibodies. Screening for autoantibodies against other anti-ENAs seems mandatory in RA patients especially when ANA is positive. RA cases with positive Anti-Jo-1 may develop anti synthetase syndrome and ILD.

Contribución del panel de miositis en el estudio de pacientes con enfermedades pulmonares intersticiales y sospecha de enfermedad del tejido conectivo / Contribution of myositis panel in the study of patients with interstitial lung disease and suspicion of connective tissue disease

INTRODUCCIÓN: La manifestación extramuscular de las miopatías inflamatorias idiopáticas (MII) es la enfermedad pulmonar intersticial (EPI) y el diagnóstico se basa en autoanticuerpos séricos. Los nuevos anticuerpos específicos y asociados a MII han ayudado a identificar nuevas entidades clínicas en el espectro de MII. El objetivo de este estudio es evaluar la contribución diagnóstica de un panel de anticuerpos de miositis (PM) en una cohorte de pacientes chilenos con EPI sin una enfermedad del tejido conectivo (ETC) definitiva. MATERIALES Y MÉTODOS: A partir de enero de 2017 se realizó un panel de miositis a 111 pacientes consecutivos con EPI y sospecha de ETC, pero sin un diagnóstico definitivo a través de otra herramienta diagnóstica, en el programa de Pulmón-Reumatológico del Instituto Nacional del Tórax, Santiago, Chile. Se compararon las características basales clínicas y serológicas de los pacientes que se asociaban más frecuentemente a la probabilidad de tener un panel positivo. RESULTADOS: El PM fue positivo en 56 de 111 pacientes. El síndrome antisintetasa (SAS) fue el diagnóstico más frecuente. Los anticuerpos más frecuentes fueron Ro-52, PM / Scl-75 y Ku. Las variables más frecuentes en el grupo PM(+) fueron la presencia del Raynaud, miositis, manos de mecánico, los anticuerpos Ro y La positivos, la presencia de un patrón combinado de neumonía intersticial inespecífica y neumonía organizada en la tomografía computarizada de tórax. CONCLUSIONES: la incorporación del PM nos ha ayudado a mejorar nuestra precisión diagnóstica en pacientes con EPI / ETC. Presentamos elementos clínicos y serológicos que perfeccionan el rendimiento de la prueba.

INTRODUCTION: The most common extramuscular manifestation of the idiopathic inflammatory myopathies (IIM) is interstitial lung disease (ILD) and the diagnosis is based on serum autoantibodies. The new specific and associated antibodies to IIM have helped to identify new clinical entities in the spectrum of IIM. The objective of this study is to evaluate the diagnostic contribution of a myositis antibodies panel (MP) in a cohort of Chilean patients with ILD without a definitive connective tissue disease (CTD). MATERIALS AND METHODS: Starting on January 2017 we performed a MP to 111 consecutive patients with ILD and suspected CTD but without a definitive diagnosis through another diagnostic tools in the Lung-Rheumatological Program at the "Instituto Nacional del Tórax", Santiago, Chile. The clinical and serological baseline characteristics of the patients that were most frequently associated with the probability of having a positive panel were compared. RESULTS: The MP was positive in 56 of 111 patients. Anti synthetase syndrome (ASS) was the most prevalent diagnosis. The most frequent antibodies were Ro-52, PM/Scl-75 and Ku. The most frequent variables in the positive MP group were the presence of Raynaud's phenomenon, myositis, mechanic's hands, positive Ro and La antibodies and the presence of combined pattern of nonspecific interstitial pneumonia and organizing pneumonia in chest computed tomography scan. CONCLUSIONS: The incorporation of the MP has helped us to improve our diagnostic precision of patients with CTD/ILD. We present clinical and serological elements that refine the performance of the test.

Síndrome antisintetasa en paciente con COP como afección pulmonar / Antisynthetase Syndrome in Patient with COP as Pulmonary Disease

El síndrome antisintetasa es una miopatía inflamatoria autoinmune que puede presentar afectación pulmonar intersticial. La presencia de anticuerpos antisintetasa se relaciona con una mayor incidencia de enfermedad pulmonar intersticial. El patrón imagenológico y anatomopatológico de la EPID es variable, fundamentalmente inflamatorio. En el caso presentado se describe una paciente con miopatía inflamatoria y compromiso pulmonar presentando un patrón tomográfico de neumonía organizativa. Se destaca la importancia de elevar el índice de sospecha de síndrome antisintetasa ante un paciente con compromiso pulmonar y miopatía, siendo fundamental para arribar a un diagnóstico la evaluación multidisciplinaria. Se realiza una revisión de la evidencia al respecto en la discusión del caso

The antisynthetase syndrome is an autoimmune inflammatory miopathy that may show interstitial pulmonary involvement. The presence of antisynthetase antibodies is related to a higher incidence of interstitial pulmonary involvement. The imaging and anatomopathological pattern of diffuse interstitial pulmonary disease (DIPD) is variable, mainly inflammatory. This case describes a female patient with inflammatory miopathy and pulmonary involvement who shows a tomographic pattern of organizing pneumonia. It is important to increase suspicion for antisynthetase syndrome in a patient with pulmonary involvement and miopathy, where multidisciplinary evaluation is fundamental to reach a diagnosis. A review of the evidence is made in the discussion of the case.

Serie de casos clínicos de pacientes con Miopatía inflamatoria idiopática y Enfermedad pulmonar intersticial del registro de Miopatías inflamatorias idiopáticas de la Sociedad Argentina de Reumatología / Clinical case series of patients with idiopathic inflammatory myopathy and interstitial lung disease from the SAR's Registry of Idiopathic Inflammatory Myopathies

Las Miopatías Inflamatorias Idiopáticas (MII) son un grupo heterogéneo de enfermedades que se caracterizan por debilidad muscular e inflamación subyacente en la biopsia muscular. Los principales órganos afectados son el músculo, la piel y también puede afectarse el pulmón. Se distinguen dentro de los subtipos clínicos como Polimiositis (PM), Dermatomiositis (DM), DM con la variante Dermatomiositis Clínicamente Amiopática (DMCA), el Síndrome Antisintetasa (SAS), la Miositis Necrotizante Inmunomediada, la Miositis por Cuerpos de Inclusión (MCI) y la Miositis Asociada a Neoplasia. La presencia de ciertos anticuerpos específicos y asociados predispone al desarrollo de manifestaciones clínicas, determinando el pronóstico de la enfermedad. Se presentan 4 pacientes del Registro de MII de la Sociedad Argentina de Reumatología (SAR) con estas características: un paciente con PM y anti Jo-1 positivo y tres pacientes con DM (uno con DMCA y anti-RO 52 y dos pacientes con anti-PL7 y anti-TIF1γ respectivamente).

Idiopathic Inflammatory Myopathies (MII) are a heterogeneous group of diseases characterized by muscle weakness and inflammation underlying muscle biopsy. The main organs affected are muscle, skin and the lung can also be affected. They are distinguished within clinical subtypes such as Polymyositis (PM), Dermatomyositis (DM), DM with the variant Clinically Amiopathic Dermatomyositis (DMCA), the Syndrome Antisynthetase (SAS), Immune-mediated Necrotizing Myositis, Body Myositis Inclusion (MCI) and Neoplasia-Associated Myositis. The presence of certain specific and associated antibodies predisposes to the development of clinical manifestations, determining the disease prognosis. 4 patients from the Registry of MII of the Argentine Society of Rheumatology (SAR) are presented with these characteristics: one patient with PM and anti Jo-1 positive and three patients with DM (one with DMCA and anti-RO 52 and two patients with anti-PL7 and anti-TIF1γ respectively).

Antisynthetase syndrome complicating the course of established case with rheumatoid arthritis: A rare and under-recognized overlapping disease.

A 52-year-old male patient developed RA in March 2009 at the age of 43, with symmetric polyarthritis and active synovitis affecting hands, knees, ankles and both feet without symptoms or signs suggestive of extra-articular features. Laboratory investigations showed negative RF and positive anti-CCP antibodies, negative ANA, negative anti-dsDNA antibodies; the X-rays of both hands showed typical erosive changes in RA and fulfilled the new ACR/EULAR (2010) criteria of RA. The patient achieved remission on a combination of DMARDs. He did well until January 2017 when he developed acute onset of progressive chest pain, dyspnea, and acute respiratory failure. High-resolution CT of the lung showed extensive areas of ground glass veiling, and interstitial subpleural infiltrates were found consistent with aggressive interstitial lung disease (ILD). Autoantibodies against extractable nuclear antigens were screened and showed positive results for anti-RO and anti-Jo1 autoantibodies. The positive anti-Jo1was an expression of anti-synthetase syndrome complicating the RA course and explained the rapidly aggressive course of ILD.

Serie de casos clínicos de pacientes con Miopatía inflamatoria idiopática y Enfermedad pulmonar intersticial del registro de Miopatías inflamatorias idiopáticas de la Sociedad Argentina de Reumatología / Series of clinical cases of patients with idiopathic inflammatory myopathy and interstitial lung disease from the registry of idiopathic inflammatory myopathies of the Argentine Society of Rheumatology

Las Miopatías Inflamatorias Idiopáticas (MII) son un grupo heterogéneo de enfermedades que se caracterizan por debilidad muscular e inflamación subyacente en la biopsia muscular. Los principales órganos afectados son el músculo, la piel y también puede afectarse el pulmón. Se distinguen dentro de los subtipos clínicos como Polimiositis (PM), Dermatomiositis (DM), DM con la variante Dermatomiositis Clínicamente Amiopática (DMCA), el Síndrome Antisintetasa (SAS), la Miositis Necrotizante Inmunomediada, la Miositis por Cuerpos de Inclusión (MCI) y la Miositis Asociada a Neoplasia. La presencia de ciertos anticuerpos específicos y asociados predispone al desarrollo de manifestaciones clínicas, determinando el pronóstico de la enfermedad. Se presentan 4 pacientes del Registro de MII de la Sociedad Argentina de Reumatología (SAR) con estas características: un paciente con PM y anti Jo-1 positivo y tres pacientes con DM (uno con DMCA y anti- RO 52 y dos pacientes con anti-PL7 y anti-TIF1γ respectivamente).

Idiopathic Inflammatory Myopathies (MII) are a heterogeneous group of diseases characterized by muscle weakness and inflammation underlying muscle biopsy. The main organs affected are muscle, skin and the lung can also be affected. They are distinguished within clinical subtypes such as Polymyositis (PM), Dermatomyositis (DM), DM with the variant Clinically Amiopathic Dermatomyositis (DMCA), the Syndrome Antisynthetase (SAS), Immune-mediated Necrotizing Myositis, Body Myositis Inclusion (MCI) and Neoplasia-Associated Myositis. The presence of certain specific and associated antibodies predisposes to the development of clinical manifestations, determining the disease prognosis. 4 patients from the Registry of MII of the Argentine Society of Rheumatology (SAR) are presented with these characteristics: one patient with PM and anti Jo-1 positive and three patients with DM (one with DMCA and anti-RO 52 and two patients with anti-PL7 and anti-TIF1γ respectively).

18F-FDG PET/CT in diagnosis and response evaluation in an unusual case of antisynthetase syndrome presenting as pyrexia of unknown origin.

Anti-histidyl (Jo-1) antibodies have been implicated in the pathogenesis of anti-synthetase syndrome (ASS). A case is presented of a 55-year-old male patient presenting with pyrexia of unknown origin and inconclusive routine investigations. (18)F-FDG PET/CT was performed to locate any abnormal focus, which showed increased FDG uptake in the proximal shoulder muscles, as well as lung lesions. Subsequent investigation showed the presence of anti Jo-1 antibody, and diagnosed as an anti-synthetase syndrome. The patient was successfully treated with glucocorticoids and cyclophosphamide, and the response was assessed with symptomatic relief and disappearance of FDG uptake in lung and muscle lesions on post-treatment FDG PET/CT.

Perfil clínico radiológico de 18 pacientes con síndrome antisintetasas atendidos en Policlínico de Pulmón Reumatológico, Instituto Nacional del Tórax / Clinic and radiologic profile of 18 patients with antisynthetase syndrome, treated in a Rheumatologic Lung Disease Clinic, Instituto Nacional del Torax

Connective Tissue Diseases (CTD) can manifest as Interstitial lung disease (ILD). ILD is a common manifestation of Anti-synthetase syndrome (AS). The main pattern of ILD in AS is nonspecific interstitial pneumonia (NSIP) with or without elements of organizing pneumonia (OP). Other less common forms include usual interstitial pneumonia (UIP) and nonspecific forms. Objectives: Describe radiological and clinical profile of 18 patients with ILD due to AS, evaluated in Instituto Nacional del Torax (INT) between 2013 and 2015. Highlighting the importance of Myositis Panel in patients being evaluated for ILD. Methods: Review of clinical records and lung CT of 76 patients with ILD and suspected AS, seen at INT between august 2013 and July 2015. Results: The diagnosis of AS was made in 18 of 76 patients, with female predominance and mean age of 46.5 years . In most patients the diagnosis of AS and ILD was simultaneous. The most frequent AS antibody was Jo-1, followed by PL-12. Less than half had ANA (+). The predominant radiographic pattern was NSIP / OP. Half of the patients had myositis. Conclusions: AS should be suspected in patients under study for ILD, especially NSIP / OP, and may occur without myositis and with negative ANA. It is essential to have new immunological tests such as a Myositis Panel, which will allow us to diagnose AS with subtle clinical features and negative or inconclusive serology...

Las Enfermedades del tejido conectivo (ETC) se pueden manifestar como Enfermedad Pulmonar Difusa (EPD). El Síndrome Antisintetasas (SAS) con mucha frecuencia presenta EPD. La forma de expresión más frecuente en SAS es la neumonía intersticial no específica (NSIP) con o sin elementos de neumonía en organización (OP). Otras formas menos frecuentes son la neumonía intersticial usual (UIP) y formas inespecíficas. Objetivos: Describir el perfil clínico radiológico de 18 pacientes con EPD secundaria a SAS, atendidos en el Instituto Nacional del Tórax (INT) entre los años 2013 y 2015. Destacar la importancia del Panel de Miositis en pacientes con EPD en estudio. Métodos: Revisión de ficha clínica y TAC pulmonar de 76 pacientes con EPD y sospecha de SAS, atendidos en INT entre agosto 2013 y julio 2015. Resultados: En 18 de 76 pacientes se hizo el diagnóstico de SAS, predominio femenino, edad promedio 46,5 años. En la mayoría el diagnóstico reumatológico y pulmonar fue simultáneo, el anticuerpo antisintetasa más frecuente fue Jo-1, seguido de PL 12. Menos de la mitad tuvo ANA (+). El patrón radiológico predominante fue NSIP/OP. La mitad de los pacientes no presentaron miositis. Conclusiones: El SAS debe ser sospechado en el estudio de pacientes con EPD, especialmente NSIP/OP y se puede presentar sin miositis y ANA (-). Es indispensable contar con nuevos exámenes inmunológicos como el Panel de Miositis, que permite diagnosticar SAS con clínica sutil y serología habitual negativa o no concluyente...

Síndrome antisintetasa / Antisynthetase syndrome

El Síndrome Antisintetasa, es una enfermedad poco frecuente perteneciente al grupo de las miopatías inflamatorias de origen inmunológico. Su caracterización inmunológica es muy variable y de allí las distintas manifestaciones clínicas de su presentación y su difícil diagnóstico. Se presenta un paciente femenino de 42 años de edad, con diagnóstico de Artritis Reumatoide (AR), con 9/10 puntos por puntaje para AR por EULAR 2011, anti-CCP +, RF -, desde octubre de 2011, en tratamiento con Prednisona y Metotrexate. Acude en febrero de 2012 por presentar disnea progresiva y tos con expectoración verdosa. Recibe antibioticoterapia sin respuesta. Se realiza TC de Tórax dónde se evidencia fibrosis pulmonar y bronquiectasias por tracción, con imágenes en panal de abeja a predominio de segmentos inferiores y posteriores. Durante su estancia hospitalaria presenta debilidad muscular proximal con elevación de CK a 4.969 U/L. , se realiza biopsia de músculo, que reporta miopatía inflamatoria; electromiografía, con patrón característico de miopatía inflamatoria y perfil inmunológico, obteniéndose Anti-Jo1 positivo, 0,885 (Negativo < 0,250). En el contexto de un síndrome poliarticular inflamatorio, una enfermedad pulmonar intersticial y una miopatía inflamatoria proximal con Anti Jo-1 (+); se realiza diagnóstico definitivo de Síndrome Antisintetasa.

This is a rare disease, member of the inflammatory myopathies of immunological origin. It has a very variable immunologic profile which makes the diagnosis difficult. We present a female patient 42 years- old, with the diagnosis of Rheumatoid Arthritis (RA), with 9/10 points of EULAR 2011 Score for RA diagnosis and RF -, Anti CCP +, in October of 2011; her treatment at that time was prednisone and methotrexate. In February of 2012, she consulted to the emergency with dyspnea and productive cough. She received antibiotics with no response. The chest Computerized Tomography evidenced pulmonary fibrosis, traction bronchiectasis and honeycombe images in posterior and inferior segments of both lungs. During her hospitalization, she presented proximal muscular weakness with CK elevation to 4.969 U/L. The muscle biopsy, which concluded inflammatory myopathy, the electromyography had the characteristic pattern of inflammatory myopathy and the immunologic profile, with a positive Anti-Jo1 0,885 (Negative <0,250). In the context of a polyarticular syndrome, an interstitial lung disease and a proximal inflammatory myopathy with a positive Anti-Jo1, we made the final diagnosis of Antisynthetase syndrome.

Kaposi's sarcoma in a steroid-treated antisynthethase antibody syndrome patient.

Kaposi's sarcoma (KS) is a malignant vascular tumor widely known as a complication of acquired immunodeficiency syndrome (AIDS) but also related to immunosupression in renal transplants, and less frequently, to other diseases. We describe a case of KS in a patient affected by anti-synthetase syndrome treated with steroids.

Síndrome Antisintetasa / Antisynthetase syndrome

El síndrome antisintetasa es una entidad poco frecuente, incluida dentro del grupo de las miopatías inflamatorias idiopáticas. Se caracteriza por la presencia de anticuerpos antisintetasa, fiebre, miositis, enfermedad pulmonar intersticial, poliartritis, fenómeno de Raynaud y manos de mecánico.

The antisynthetase syndrome is a rare condition that has been included in the group of idiopatic inflammatory skeletal muscle disease. The presence of antisynthetase autoantibody, fever, myositis, intersticial lung disease, polyarthritis, Raynaud´s phenomenon and “mechanic´s hands” represent the main characteristics of antisynthetase syndrome.