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Objective:To analyze the frequency and characteristics of polymyositis (PM) in idiopathic inflammatory myopathy (IIM), and to investigate whether PM is over-diagnosed.Methods:Patients diagnosed as IIM according to the Bohan & Peter criteria of IIM hospitalized in the Department of Rheumatology of China-Japan Friendship Hospital from 2008 to 2019 were involved in the study. Definite PM (dPM) was defined as typical clinical and pathological features including elevated creatine kinase (CK) level, muscle weakness and muscle biopsy findings with endomysial CD8 + T cell infiltration and expression of MHC-1 on sarcolemma. Meanwhile, dermatomyositis (DM), anti-synthase syndrome(ASS), immune-mediated necrotic myopathy(IMNM), sporadic inclusion body myositis(sIBM) and other myopathies were excluded according to the new classification criteria of IIM subtypes respectively. Statistical analysis was performed using SPSS software 24.0. The Kruskal-Wallis test and χ2 test were used to compare the clinical characteristics between the dPM group and other IIM subtypes. Results:A total of 1 259 patients with IIM including 1 015 (80.6%) DM and 244(19.4%) PM were enrolled in this study. According to the strict definition of PM criteria, only 0.5% of patients (6/1 259) in IIM could be diagnosed as dPM. Most PM patients were IMNM and ASS according to the new IIM subtypes criteria, of which 48.0% (117/244) were IMNM and 32.0% (78/244) were ASS. 66.7%(4/6) of dPM patients were women. One complicated with RA, and one was dPM overlaped with systemic sclerosis. All of them had muscle weakness, mild elevation of CK level [611(391,1 451) U/L], and were myositis-specific autoantibodies negative. Except one dPM patients who did not receive immunoregulatory therapy due to chronic obstructive pulmonary disease, the others were administrated with low or medium dose prednisone combined with or without immunosuppressive agents. After a median follow-up of (38±26) months, the muscle strength of dPM patients were improved.Conclusion:dPM is a very rare clinical subtype of IIM. PM is an over-diagnosed entity in clinical practice. Patients with dPM have mild symptoms and good outcome.
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Abstract Objectives Cardiac involvement is one of the most serious complications of idiopathic inflammatory myopathy (IIM) that indicates poor prognosis. However, there is a lack of effective biomarkers for the identification of cardiac involvement and the prediction of prognosis in IIM. Here, we aimed to explore the value of different cardiac biomarkers in IIM patients. Methods A total of 142 IIM patients in the Department of Rheumatology and Immunology, Ruijin Hospital from July 2019 to October 2022 were included in this study. The clinical characteristics, laboratory tests, treatments and prognosis were recorded. The disease activity was assessed according to the core set measures. The correlations of the serum cardiac biomarkers levels with disease activity were analyzed by the Spearman correlation test. Risk factors for cardiac involvement were evaluated by multivariate logistic regression analysis. Results Higher high-sensitivity cardiac troponin I (hs-cTnI) levels were associated with cardiac involvement (n = 41) in IIM patients [adjusted OR 7.810 (95% CI: 1.962-31.097); p = 0.004], independent of other serum cardiac biomarkers. The abnormal hs-cTnI had the highest AUC for distinguishing of cardiac involvement in IIM patients (AUC = 0.848, 95% CI: 0.772,0.924; p < 0.001). Besides, we found that high serum levels of hs-cTnI were significantly correlated with disease activity. Moreover, patients with higher serum levels of hs-cTnI tended to suffer from poor prognosis. Conclusions Serum hs-cTnI testing may play a role in screening for cardiac involvement in IIM patients. Abnormal levels of serum hs-cTnI were associated with increased disease activity and poor prognosis. Key Points Among all the cardiac biomarkers, the serum levels of hs-cTnI were independently associated with cardiac involvement in IIM patients. The serum levels of hs-cTnI were significantly correlated with disease activity in IIM patients. The abnormal hs-cTnI levels were correlated with poor prognosis in IIM patients.
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Diagnosis of inflammatory myositis has been made easier with the availability of commercial assays for myositis-specific and myositis-associated antibodies. Clinico-serological association studies have permitted a better definition of clinical subsets. Myositis-specific auto-antibodies are highly specific and non-overlapping, whereas myositis-associated antibodies are those seen also in other connective tissue disorders such as systemic lupus erythematosus, primary Sjogren's syndrome, and idiopathic pulmonary auto-immune fibrosis. Their value is pronounced when clinical features are subtle or non-specific or when the muscle is not the primary organ involved. Overall, the muscle-specific and myositis-associated antibodies have changed the landscape in terms of diagnostic utility, prognostication, and the approach to organ-specific evaluation and management of idiopathic inflammatory myopathies (IIMs).
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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.
Subject(s)
Female , Myopia , Arthritis , Lung Diseases , MyositisABSTRACT
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.
Subject(s)
Myositis , Lung Diseases, Interstitial , LigasesABSTRACT
Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.
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Objective:To explore the correlation between tumor markers and prognosis of patients with idiopathic inflammatory myopathy (IIM) associated interstitial lung disease (ILD).Methods:A total of 149 patients who were no less than 18 years old and diagnosed with IIM-ILD from July 2017 to September 2019 in the First Affiliated Hospital of Zhengzhou University were consecutively enrolled in the study. Ten patients were lost to follow-up. The remaining 139 cases were regarded as research objects. Patients were divided into survival group or death group according to their one-year survival status. Then their baseline characteristics were compared. Univariate Cox regression analyses of age, gender, cancer, inflammatory indexes, muscle zymogram, tumor markers, ferritin, melanoma differentiation-associated gene 5 (MDA5) antibody and treatment regimens were conducted to identify prognostic risk factors of one-year mortality. Corrected multivariable cox regression was applied to screen the independent risk factors associated with one-year mortality of IIM-ILD. According to the cut-off value of carcinoembryonic antigen (CEA) and neuron specific enolase (NSE) (6 μg/L and 28 μg/L, respectively), patients were divided into high-level groups and low-level groups. Kaplan Meier survival curve were generated to compare one-year survival rate of high-level groups and low-level groups. On the basis of qualitative results of MDA5 antibody, patients were split into two groups with positive MDA5 antibody or negative MDA5 antibody. The differences of CEA, NSE levels between the two groups and the correlation between CEA, NSE levels and ferritin were analyzed.Results:Age, lactate dehydrogenase (LDH), CEA, carbohydrate antigen (CA) 199, NSE and ferritin in the death group were higher than those in the survival group, while the rate of immunosuppressant administration was lower than that in survival group ( P<0.05). Univariate regression analyses showed that CEA, cytokeratin 19 fragment (CYFRA211) and NSE were risk factors for one-year mortality of IIM-ILD. Adjusted by age, treatment regimens and tumor, multivariate regression analysis showed that CEA [ HR=1.112, 95% CI (1.017-1.214), P=0.019] and NSE [ HR=1.033, 95% CI (1.002-1.064), P=0.034] were independent risk factors for one-year mortality. One-year survival rate of the group with CEA≥6 μg/L was lower than that in the group with CEA<6 μg/L (Logrank test, P<0.001). Similarly, one-year survival rate of the group with NSE≥28 μg/L was lower than that in the group with NSE<28 μg/L (Logrank test, P<0.001). In addition, the CEA level in patients with positive MDA5 antibody was higher than that in patients with negative MDA5 antibody ( P<0.001). However, there was no correlation between NSE and MDA5 antibody. Moreover, serum levels of CEA ( r=0.299, P=0.002) and NSE ( r=0.349, P<0.001) were positively correlated with ferritin. Conclusions:Tumor markers have predictive value for the prognosis of IIM-ILD. Higher CEA and NSE are independent risk factors for poor prognosis in patients with IIM-ILD.
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Objective:To investigate the role of HIS (hyperinflammatory syndrome) score in predicting the prognosis of anti-melanoma differentiation associated gene 5(MDA5) antibody-positive dermatomyositis (DM) patients with interstitial lung disease (ILD).Methods:A total of 43 patients with anti-MDA5 antibody-positive dermatomyositis and 228 connective tissue disease (CTD) patients with ILD hospitalized in the First Affiliated Hospital of Nanjing Medical University from January 2018 to April 2021 were enrolled into this study. All patients were complicated with ILD and their HIS score were assessed. Non-parametric Mann-Whitney U test, Chi-squared test, Fisher exact probability and receiver operating characteristic (ROC) curve were used for data analysis. Results:The HIS score of 43 patients with anti-MDA5 antibody-positive dermat-omyositis were collected. Among 228 CTD-ILD patients in the control groups, the primary disease consisted of 33(14.5%) anti-synthetase antibody syndrome (ASS), 44(19.3%) rheumatoid arthritis (RA), 65(28.5%) Sj?gren's syndromes (SS), 43 (18.9%) systemic sclerosis (SSc) and 43 (18.9%) systemic lupus erythematosus(SLE). The HIS score of anti-MDA5-positive DM-ILD patients [2(1, 3)] was higher than those in ASS patients [1(0, 2), Z=-2.06, P<0.05] and significantly higher than those in RA-ILD [1(0, 2), Z=-2.87, P<0.01], SS-ILD [0(0,1), Z=-5.78, P<0.01], SSC-ILD [1(0, 1), Z=-3.84, P<0.01] and SLE-ILD [1(0, 2), Z=-3.81, P<0.01]. Comparing HIS score of anti-MDA5-positive DM-ILD patients, the 3-months mortality rate in the low, medium and high groups was 0(0/15), 38.1%(8/21) and 85.7%(6/7). The area under ROC curve (95% CI) was 0.857[(0.747, 0.967), P<0.001] for HIS score in predicting 3-months mortality probability of anti-MDA5-positive DM-ILD. Conclusion:HIS score of anti-MDA5-positive DM-ILD is higher than that in CTD-ILD patients and the baseline level is related to the 3-months mortality rate.
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Introducción: Las miopatías inflamatorias idiopáticas constituyen un grupo de enfermedades musculares caracterizadas por debilidad muscular crónica e inflamación muscular de etiología desconocida. Objetivo: Identificar las características clínicas e inmunológicas y su relación con el daño de órganos en los pacientes con miopatías inflamatorias idiopáticas. Métodos: Se realizó estudio observacional, descriptivo, transversal, en 52 pacientes con diagnóstico de miopatía inflamatoria idiopática, seguidos en la consulta protocolizada de Reumatología del Hospital Clínico Quirúrgico Hermanos Ameijeiras entre enero 2016 y enero 2017. Para las variables cualitativas se calcularon los porcentajes de cada grupo. Se utilizó Chi-cuadrado de Pearson (estadístico exacto de Fisher). Nivel de significación del 95 por ciento (α = 0,05) para relacionar la presencia de anticuerpos y el tipo de miopatía así como la presencia de manifestaciones clínicas de MII. Resultados: El 80,8 por ciento fueron mujeres y 86,5 por ciento de procedencia urbana. La edad media al comienzo fue 42,8 ± 13,2 años, tiempo de demora al diagnóstico de 8,8 ± 7,0 meses, tiempo medio de evolución de la enfermedad de 7,5 ± 7,1 años. El 80,8 por ciento estaba en remisión, 50 por ciento tenía anticuerpos específicos. La hipertensión arterial se encontró en 28,8 por ciento de los pacientes y 23,1 por ciento presentó neumonía intersticial. La artritis estuvo presente en 96,2 por ciento. El 26,9 por ciento presentaron anticuerpos específicos Jo-1 y 21,2 por ciento Ro 52. Conclusiones: Predominaron los pacientes del sexo femenino en la cuarta década de la vida de procedencia urbana, los anticuerpos específicos encontrados más frecuentes fue el anti Jo-1, asociado a la presencia de neumopatía intersticial(AU)
Introduction: Idiopathic inflammatory myopathies constitute a group of muscle diseases characterized by chronic muscle weakness and muscle inflammation of unknown etiology. Objective: To identify the clinical and immunological characteristics and their relationship with organ damage in patients with idiopathic inflammatory myopathies. Methods: An observational, descriptive, cross-sectional study was carried out in 52 patients with diagnosis of idiopathic inflammatory myopathy, followed in the protocolized consultation of Rheumatology at Hermanos Ameijeiras Clinical and Surgical Hospital from January 2016 to January 2017. For the qualitative variables, the percentages of each group were calculated. Pearson's Chi-square (Fisher's exact statistic) was used. 95percent significance level (α = 0.05) was used to relate the presence of antibodies and the type of myopathy as well as the presence of clinical manifestations of MII. Results: 80.8percent were women and 86.5percent of urban origin. The mean age at the beginning was 42.8 ± 13.2 years, time delay to diagnosis was 8.8 ± 7.0 months, mean time of evolution of the disease of 7.5 ± 7.1 years. 80.8percent were in remission, 50percent had specific antibodies. Hypertension was found in 28.8percent of the patients and 23.1percent had interstitial pneumonia. Arthritis was present in 96.2percent. 26.9percent had specific Jo1 antibodies and 21.2percent had Ro 52. Conclusions: Urban female patients in the fourth decade of life predominated, the most frequent specific antibodies found was anti-Jo-1, associated with the presence of interstitial lung disease(AU)
Subject(s)
Humans , Male , Female , Polymyositis/epidemiology , Dermatomyositis/epidemiology , Antibodies , Myositis/diagnosis , Epidemiology, Descriptive , Cross-Sectional Studies , Observational StudyABSTRACT
RESUMEN Introducción: Las miopatías inflamatorias idiopáticas constituyen un grupo de enfermedades musculares caracterizadas por debilidad muscular crónica e inflamación muscular de etiología desconocida. Objetivo: Identificar las características clínicas e inmunológicas y daño de órganos en pacientes con miopatías inflamatorias idiopáticas. Método: Se realizó estudio observacional, descriptivo, transversal en 52 pacientes con diagnóstico de miopatía inflamatoria idiopática, seguidos en la consulta protocolizada de Reumatología del Hospital Clínico Quirúrgico "Hermanos Ameijeiras" entre enero 2016 y enero 2017. Para las variables cualitativas se calcularon los porcentajes de cada grupo. Se utilizó Chi-cuadrado de Pearson (Estadístico exacto de Fisher), nivel de significación del 95 % (α=0,05) para relacionar la presencia de anticuerpos y el tipo de miopatía, así como la presencia de manifestaciones clínicas de miopatías inflamatorias idiopáticas. Resultados: Del total de pacientes estudiadas, 80,8 % fueron mujeres, 61,5 % de color de piel negra, 86,5 % de procedencia urbana. La edad media al comienzo fue 42,8 ± 13,2 años, tiempo de demora al diagnóstico de 8,8 ± 7,0 meses, tiempo medio de evolución de la enfermedad de 7,5 ± 7,1 años, 80,8 % estaban en remisión, 50 % tenía anticuerpos específicos. La hipertensión arterial se encontró en 28,8 % de los pacientes y 23,1 % presentó neumonía intersticial. La artritis estuvo presente en 96,2 %, 26,9 % presentaron anticuerpos específicos Jo1 y 21,2 % Ro 52. Conclusiones: Predominaron los pacientes del sexo femenino, en la cuarta década de la vida, de procedencia urbana. Los anticuerpos específicos encontrado con más frecuencia fue el anti Jo-1, que se asoció a la presencia de neumopatía intersticial.
ABSTRACT Introduction: Idiopathic inflammatory myopathies constitute a group of muscle diseases characterized by chronic muscle weakness and muscle inflammation of unknown etiology. Objective: To identify the clinical and immunological characteristics and organ damage in patients with idiopathic inflammatory myopathies. Method: An observational, descriptive, cross-sectional study was carried out in 52 patients with diagnosis of idiopathic inflammatory myopathy, followed up in the protocolized service of Rheumatology at Hermanos Ameijeiras Clinical Surgical Hospital from January 2016 to January 2017. The qualitative variables were calculated with the percentages in each group. Pearson's Chi-square (Fisher's exact statistic) (95% significance level (α = 0.05) was used to relate the presence of antibodies and the type of myopathy as well as the presence of clinical manifestations of idiopathic inflammatory myopathies. Results: 80.8% were women of the total patients studied, 61.5% non-white skin color, 86.5% of urban origin. The mean age at the beginning was 42.8 ± 13.2 years, time delay to diagnosis was 8.8 ± 7.0 months, mean time of evolution of the disease of 7.5 ± 7.1 years. 80.8% were in remission, 50% had specific antibodies. Hypertension was found in 28.8% of the patients and 23.1% had interstitial pneumonia. Arthritis was present in 96.2%. We found 26.9% had specific Jo1 antibodies and 21.2% Ro 52. Conclusions: Urban origin female patients predominated, in their fourth decade of life, the more frequent specific antibodies found was anti Jo-1, which was associated with the presence of interstitial lung disease.
Subject(s)
Humans , Female , Dermatomyositis/diagnosis , Myositis/epidemiology , Epidemiology, Descriptive , Cross-Sectional Studies , Observational StudyABSTRACT
Introducción: Las miopatías inflamatorias idiopáticas (MII) constituyen un grupo heterogéneo de enfermedades que comprometen la musculatura esquelética y se manifiestan por debilidad y signos inflamatorios en la biopsia muscular. El objetivo de este estudio es hacer una caracterización epidemiológica de una cohorte de pacientes con MII en una población del suroccidente colombiano. Metodología: De forma retrospectiva, se revisaron las historias clínicas de pacientes con diagnóstico de MII que fueron tratados en un hospital de cuarto nivel de complejidad en Cali, Colombia, entre el 2011 y el 2017. Se recolectaron variables demográficas, clínicas, serológicas y de tratamiento. Resultados: Se identificaron 72 pacientes con MII, mayoritariamente mujeres (n = 54, 75%). La media de edad al inicio de los síntomas fue de 37,11 ± 19,18 años. Las principales MII fueron dermatomiositis (DM) y polimiositis, las cuales se presentaron en 35 (48,6%) y 25 pacientes (34,7%), respectivamente. Veintiocho pacientes (38,8%) presentaban enfermedad autoinmune asociada, siendo el lupus eritematoso sistémico la más frecuente, al presentarse en7 (9,72%) pacientes. La biopsia de músculo se realizó en 25 pacientes (34,7%), mientras que28 (38,8%) tenían anticuerpos antinucleares positivos. La mediana de la creatinfosfoquinasa fue de 877,5 mg/dL (163,5-4.358,3). Sesenta y siete pacientes (93,1%) fueron tratados con glucocorticoides y 18 (25%) con rituximab (RTX) como monoterapia o combinado con otro fármaco inmunosupresor. Conclusiones: La DM es la condición clínica más frecuente, es común en mujeres y se presenta en la cuarta década de vida. Los tratamientos con los que más se obtuvo mejoría clínica fueron los glucocorticoides, seguidos del RTX en monoterapia o combinado con otros inmunosupresores.
Background: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of diseases characterised by skeletal muscle involvement, manifested by weakness and inflammatory signs in the muscle biopsy. The objective of this article is to describe the clinical, laboratory, and treatment features of a cohort of patients with IIM in southwest Colombia. Methods: A retrospective review was conducted on the medical records of patients diagnosed with IIM treated at a fourth-level complexity hospital in Cali, Colombia, from 2011 to 2017. Demographic, clinical, serological, and treatment data were collected. Results: A total of 72 patients with IIM were identified, mostly women (n = 54,75%). The mean age at onset of symptoms was 37.11 ± 19.18 years. The main subtypes of IIM were dermatomyositis (DM) and polymyositis, occurring in 35 patients (48.6%) and 25 patients (34.7%), respectively. Twenty-eight patients (38.8%) had associated autoimmune disease, with syste mic lupus erythematosus being the most frequent in 7 (9.72%) patients. Muscle biopsy was performed in 25 patients (34.7%), while 28 (38.8%) had positive antinuclear antibodies. The median creatine phosphokinase was 877.5 mg/dL (163.5-4358.3). Sixty-seven patients (93.1%) were treated with glucocorticoids, and 18 (25%) patients were treated with rituximab (RTX) as monotherapy or combined with another immunosuppressant drug. Conclusions: DM is the most frequent subtype of IIM, being common in women and occurring in the fourth decade of life. The most used treatments were glucocorticoids, followed by RTX monotherapy, or combined with other immunosuppressants.
Subject(s)
Humans , Female , Adult , Muscular Diseases , Rheumatology , Colombia , Dermatomyositis , Lupus Erythematosus, SystemicABSTRACT
Abstract Background: The protein chitinase-3-like-1 (YKL-40) is rarely analyzed in patients with myositis. Therefore, we aimed to evaluate YKL-40 serum levels; correlate them with laboratory and clinical parameters, disease status, and treatment schemes; and analyze the YKL-40 expression in the muscle tissues of patients with antisynthetase syndrome (ASSD). Methods: This cross-sectional single-center study included 64 adult patients with ASSD who were age-, gender-, and ethnicity-matched to 64 healthy control individuals. Their YKL-40 serum levels were analyzed using the Enzyme-Linked Immunosorbent Assay (ELISA) kit method, while YKL-40 expression in muscle tissues was analyzed using an immunohistochemical technique. Disease status was assessed using the International Myositis Assessment and Clinical Studies Group (IMACS) set scores. Results: The patients' mean age was 44.8 ± 11.8 years, and median disease duration was 1.5 (0.0-4.0) years. These patients were predominantly female (82.8%) and Caucasian (73.4%). Most patients had stable disease. The median YKL-40 serum level was significantly higher in patients with ASSD when compared to the healthy individuals: 538.4 (363.4-853.1) pg/mL versus 270.0 (201.8-451.9) pg/mL, respectively; P < 0.001. However, YKL-40 serum levels did not correlate with any clinical, laboratory, disease status, or therapeutic parameters (P > 0.050), except tumor necrosis factor alpha (TNF-α) serum levels (Spearman's correlation, rho = 0.382; P = 0.007). YKL-40 was highly expressed by inflammatory cells found in muscle biopsy specimens. Conclusions: High YKL-40 serum levels were observed in patients with ASSD and correlated positively with TNF-α serum levels. Moreover, YKL-40 was expressed by the inflammatory cells of the muscle tissue.
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Idiopathic inflammatory myopathies are a group of rare but serious diseases. The treatment of refractory idiopathic inflammatory myopathy is always challenging, especially in children. Three cases of refractory idiopathic inflammatory myopathy treated by rituximab were reported and discussed with the review of relevant literature. All were female with on-set age of 8 years and 6 months, 11 years and 7 months, 4 years and 2 months old, respectively. All had acute onset, presenting with progressive and severe muscle weakness. All lost ambulation within 1 or 2 months, with difficult swallowing and low voice. Respiratory distress occurred in case 2 after an attack of asphyxia due to an aspiration of sputum, and ventilator support was required for 1 month. Rashes were detected at the initial stage of the disease in cases 2 and 3. Patient 2 showed facial erythematous papules, spreading to her neck and hands. Patient 3 showed purplish eyelids with peri-orbital swelling, generalized edema involving all her limbs. Creatine kinase (CK) levels were markedly elevated in all the patients, ranging from 6 000 IU/L to 28 819 IU/L. Anti-SRP antibody was identified in cases 1, and anti-NXP2 antibodies were confirmed in cases 2 and 3. MRI of both thighs in all the patients showed profound muscle and fascial edema. Muscle pathology of patient 1 showed prominent fiber variation and endomysial fibrosis, with overexpression of MHC-Ⅰ. While muscle pathology in patients 2 and 3 showed scattered fiber necrosis, regeneration, endomysial edema without inflammatory cell infiltration. All the patients were diagnosed with idiopathic inflammatory myopathy and failed to the initial treatment including adequate glucocorticoids and high-dose immunoglobulin therapy. Other immunosuppressants (methotrexate, cyclophosphamide) were also tried in cases 2 and 3 with poor response. Then all the patients were treated with rituximab combined with glucocorticoids. Patient 1 regained normal strength and discontinued rituximab at the end of her last follow-up (2 years and 7 mouths). Though calcinosis developed during the follow-up period, significant improvement was noticed in cases 2 and 3 (both regained the ability to walk independently) at the end of their last follow-up after 2 years and 8 months, 3 years and 2 months respectively. Long-term rituximab therapy may improve the prognosis of refractory idiopathic inflammatory myopathy, especially with positive anti-SRP and anti-NXP2 antibodies.
Subject(s)
Child , Female , Humans , Infant , Glucocorticoids , Magnetic Resonance Imaging , Myositis/drug therapy , RituximabABSTRACT
OBJECTIVE@#To investigate the clinical and immunological characteristics of overlap myositis (OM) patients.@*METHODS@#The data of 368 patients with idiopathic inflammatory myopathies (IIMs) admitted to Peking University People's Hospital from January 2004 to August 2020 were analyzed retrospectively, including demographic characteristics, clinical characteristics (including fever, Gottron' s sign/papules, Heliotrope rash, V-sign, Shawl sign, Mechanic' s hands, skin ulceration, periungual erythema, subcutaneous calcinosis, dysphagia, myalgia, myasthenia, arthritis, Raynaud' s phenomenon, interstitial lung disease, pulmonary hypertension and myocardial involvement), laboratory characteristics, immunological characteristics [including antinuclear antibodies, rheumatoid factors, myositis-associated autoantibodies (MAAs) and myositis-specific autoantibodies (MSAs)] and survival. The clinical and immunological characteristics and prognostic differences of OM and non-OM were compared. The Kaplan-Meier and Log Rank methods were used to analyze the survival.@*RESULTS@#A total of 368 patients were included. 23.9% (88/368) of IIMs patients were OM patients. Among the 88 OM patients, 85.2% (75/88) of them were female, and the median interval between disease onset and diagnosis was 13.5 months. The incidence of overlapped connective tissue diseases in the OM patients was dermatomyositis (DM) in 60.2%, polymyositis (PM) in 3.4%, immune-mediated necrotizing myopathy (IMNM) in 2.3% and anti-synthetase syndrome (ASS) in 34.1%. Compared with the non-OM patients, the proportion of the females in the OM patients was higher (85.2% vs. 72.1%, P=0.016), the OM patients had longer disease duration [13.5(4.5, 48.0) months vs. 4.0(2.0, 12.0) months, P < 0.001]. As for clinical characteristics, compared with the non-OM patients, the incidence of V-sign (25.0% vs. 44.6%, P=0.001) and periungual erythema (8.0% vs. 19.6%, P=0.013) were lower; the incidence of Raynaud's phenomenon (14.8% vs. 1.8%, P < 0.001), interstitial pneumonia (88.6% vs. 72.1%, P=0.001), pulmonary hypertension (22.7% vs. 7.5%, P < 0.001) and myocardial involvement (18.2% vs. 9.3%, P=0.033) were higher. As for immunological characteristics, compared with the non-OM patients, the incidence of elevated aspartate aminotransferase (AST) (31.8% vs. 45.0%, P=0.035) was lower and elevated C-reactive protein (CRP) (58.0% vs. 44.6%, P=0.037) was higher; the positive rates of antinuclear antibodies (ANA) (85.1% vs. 63.4%, P=0.001) and rheumatoid factors (RF) (40.2% vs. 17.8%, P < 0.001) and anti-Ro-52 (71.6% vs. 56.1%, P=0.038) in serum were higher. There was no significant difference in the survival between the OM patients and non-OM patients.@*CONCLUSION@#Pulmonary hypertension and myocardial involvement were frequently observed in OM.
Subject(s)
Female , Humans , Autoantibodies , Dermatomyositis/epidemiology , Myositis/epidemiology , Raynaud Disease , Retrospective StudiesABSTRACT
Background: Juvenile idiopathic inflammatory myopathies (JIIM) are rare and heterogeneous. Subtype identification is important for treatment. Materials and Methods: Patients below 18 years diagnosed as idiopathic inflammatory myopathy (IIM) according to the Bohan and Peter criteria between January 2010 and May 2015 were evaluated with muscle biopsy in the four domains: muscle fiber, inflammation, connective tissue, and vascular, with basic panel of histochemical stains as per recommendations of the European Neuromuscular center (ENMC) workshop 2015. Immunohistochemistry with CD 31 was done to assess capillary density. Results: JIIM constituted 15.25% of IIM with juvenile dermatomyositis (JDM) being the most common subgroup (24/27) followed by juvenile overlap myositis (JOM) (3/27) in association with systemic lupus erythematosus (2) and systemic sclerosis (1). Muscle biopsy in JDM was characterized by perifascicular atrophy, necrosis, degeneration, and regeneration in all and the other features included perivascular inflammation (21), lymphoid aggregates (2), mitochondrial abnormalities (9), sarcoplasmic vacuoles (6), capillary dropout (5), capillary dilatation (6), and perimysial fibrosis (14). JOM was characterized by auto-antibodies and perivascular inflammation. Conclusion: JIIMs were rare and JDM was the most common subtype. Muscle biopsy evaluation as per ENMC criteria characterized the subgroups.
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Miopatía Necrotizante Autoinmune (MNA) fue reconocida como nuevo sub-grupo de miositis luego de observar en biopsias musculares la presencia de necro-sis con escaso o ausente infiltrado inflamatorio, sumado a la expresión de dos an-ticuerpos específicos de miositis (Anticuerpo anti Partícula de Reconocimiento de Señal, anti-SRP; y Anticuerpo anti Hidroxi-3-metilglutaril-CoA reductasa, anti-HM-GCR), ambos fuertemente asociados al hallazgo histológico descrito y a fenotipos clínicos característicos a cada anticuerpo, los cuales comparten importantes simi-litudes representadas por severa debilidad muscular proximal, gran elevación de creatinkinasa (CK), escasa manifestación de síntomas y signos extramusculares, y resistencia al uso de inmunosupresión habitual. Si bien en primera instancia los criterios de clasificación propuestos estaban basados en la histología, la obser-vación de necrosis en otros subgrupos de miositis, sumado a la homogeneidad del comportamiento clínico de pacientes que expresaban anticuerpos anti-SRP o anti-HMGCR independiente de la histología presentada, llevó en el año 2016 al Grupo de Trabajo del Centro Europeo Neuromuscular (ENMC) a establecer crite-rios diagnósticos de MNA basados en el comportamiento clínico (debilidad mus-cular proximal con CK total elevada) más la presencia del anticuerpo respectivo (anti-SRP o anti-HMGCR), reservando la necesidad de realizar biopsia muscular en el caso que la serología resulte negativa, siendo así reconocidas tres entidades distintas de MNA: Miopatía anti-SRP, Miopatía anti-HMGCR y Miopatía Necroti-zante seronegativa. La presente revisión expresa el actual conocimiento de MNA y sus subtipos, refiriéndose a aspectos históricos, clínicos, histológicos, inmuno-patológicos, y de pronóstico y tratamiento.
Necrotizing autoinmune myopathy (NAM) was recognized as a new sub-group of myositis after the observation of necrosis with mild or absent inflam-matory infiltrates in muscle biopsies, in addition of expression of two specific myositis antibodies (antiSRP and antiHMGCR), which are strongly associated to the mentioned hystologic findings, with different clinical phenotypes depending on the presence of each antibody, but sharing some features like severe proximal muscle weakness, significant elevation of creatin phosphokinase (CK), mild ex-tramuscular involvement and resistance to commonly used immunosupressants. The first proposed approach to classification criteria was hystology-based, none-theless the observation of necrosis in some other types of myositis and the homo-geneity of clinical features in patients expressing antiSRP or antiHMGCR despite the hystologic findings led to a new classification scheme leaded by the European Neuromuscular Center in 2016, which recognizes thre different clinical entities of NAM, based on the antibody expression plus the presence of proximal muscle weakness, relying hystology to a secondary place thus eliminating the need for immediate biopsy to stablish a diagnosis: those are antiSRP myopathy, antiHMG-CR myopathy and seronegative necrotizing myopathy, being the last one the only needing muscle biopsy. The present review shows the actual knowledge about NAM and its subtypes, referring to hystoric, clinical, hystologic, immunopatholog-ic, prognostic and therapeutic issues.
Subject(s)
Humans , Autoimmune Diseases/pathology , Myositis/pathology , Autoimmune Diseases/immunology , Muscular Diseases , Myositis/diagnosis , Myositis/physiopathology , Myositis/therapy , Myositis/epidemiology , Necrosis/immunology , Necrosis/pathologyABSTRACT
Objective To observe the treatment of inflammatory myopathy-associatied cardiomyopathy and its impact on prognosis of disease.Methods In this single-center retrospective study,29 cases of inflammatory myopathy-associated cardiomyopathy were collected in Peking Union Medical College Hospital from 1999 to 2016.The clinical data and adverse events during follow up were documented.Among 29 patients there were 11 cases of polymyositis,8 cases of dermatomyositis,8 cases of overlap syndrome and 2 cases of nonspecific myositis.All the patients started with sufficiene prednisone (1-2 mg· kg-1· d-1).7 cases received intravenous immune globulin,while 12 cases were prescribed with steroid pulse therapy,16 cases with methotrexate,15 cases with cyclophosphamide,6 cases with cyclosporine A,while 11 cases with combination of immune suppressors (methotrexate plus cyclophosphamide or cyclosporine A).After a median follow up of 4.8 years (2 month to 15 years),14 cases died including 9 of cardiac death.Patients with cardiac deaths had lower usage percentages of intravenous gamma globulin (0 vs.7/20,P=0.05) and steroid pulse therapy (1/9 vs.11/20,P=0.043) than controls.Comparing with controls,patients in the group of adverse events were more prone to choose methotrexate alone rather than combination of immune suppressors (all-cause death:1/14 vs.8/15,P=0.014;cardiac death:0 vs.9/20,P=0.027).Kaplan-Meier survival analysis showed significant difference of survival rates between patients with combination of immune suppressors and controls (Log Rank x2=6.001,HR=7.58,P=0.014),as well as between patients with β receptor blockers and controls (Log Rank x2=4.589,HR=2.95,P=0.032).Conclusions We recommend a management strategy that emphasize both primary disease controlling and cardiac remodeling improvement in patients with inflammatory myopathy-associated cardiomyopathy.On the basis of sufficient glucocorticoids,intravenous gamma globulin,steroid pulse therapy,combination of methotrexate plus other immune suppressants,and β receptor blockers were worthy to be considered.
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BACKGROUND: This study aimed to estimate the incidence and prevalence of idiopathic inflammatory myopathies (IIM) and associated comorbidities in Korea from 2006 to 2015. METHODS: IIM between 2004 to 2015 were identified using the Korean National Health Insurance Service medical claim database. The case definition required more than one visit based on diagnostic codes including juvenile dermatomyositis (JDM), dermatomyositis (DM), or polymyositis (PM) and registration in the Individual Copayment Beneficiaries Program (ICBP) for rare and intractable diseases. IIM patients with a disease-free period of 24 months before the index date were defined as incident cases. The Elixhauser comorbidity score was calculated. RESULTS: Using the base case definition, 1,150 prevalent patients with IIM (117 JDM, 521 DM, 512 PM) were recorded in 2006 and 2,210 (130 JDM, 1,101 DM, 869 PM) in 2015. The prevalence was estimated at 2.3–4.0 (0.9–1.2 for JDM, 1.2–2.7 for DM, 1.4–2.1 for PM)/100,000 person-year (PY). We identified 218 incident cases of IIM in 2006 (18 JDM, 98 DM, 102 PM) and 191 cases (7 JDM, 83 DM, 101 PM) in 2015. The incidence was estimated at 2.9–5.2 (0.7–1.9 for JDM, 1.8–4.0 for DM, 1.6–3.0 for PM)/1,000,000 PY. The mean age (± standard deviation) of prevalent patients with IIM was 51.2 (± 16.9) years, and the percentage of women was 72.1%. More than two-thirds of patients (70.7%) had more than two comorbidities. Twenty percent of patients had interstitial lung diseases. CONCLUSION: In Korea, the incidence and prevalence of IIM were 2.9–5.2/1,000,000 PY and 2.3–4.0/100,000 PY, respectively.
Subject(s)
Female , Humans , Comorbidity , Dermatomyositis , Incidence , Korea , Lung Diseases, Interstitial , Myositis , National Health Programs , Polymyositis , PrevalenceABSTRACT
Objective@#To observe the treatment of inflammatory myopathy-associatied cardiomyopathy and its impact on prognosis of disease.@*Methods@#In this single-center retrospective study, 29 cases of inflammatory myopathy-associated cardiomyopathy were collected in Peking Union Medical College Hospital from 1999 to 2016. The clinical data and adverse events during follow up were documented. Among 29 patients there were 11 cases of polymyositis, 8 cases of dermatomyositis, 8 cases of overlap syndrome and 2 cases of nonspecific myositis.All the patients started with sufficiene prednisone (1-2 mg·kg-1·d-1). 7 cases received intravenous immune globulin, while 12 cases were prescribed with steroid pulse therapy, 16 cases with methotrexate, 15 cases with cyclophosphamide, 6 cases with cyclosporine A, while 11 cases with combination of immune suppressors (methotrexate plus cyclophosphamide or cyclosporine A). After a median follow up of 4.8 years (2 month to 15 years), 14 cases died including 9 of cardiac death. Patients with cardiac deaths had lower usage percentages of intravenous gamma globulin (0 vs. 7/20, P=0.05) and steroid pulse therapy (1/9 vs. 11/20, P=0.043) than controls. Comparing with controls, patients in the group of adverse events were more prone to choose methotrexate alone rather than combination of immune suppressors (all-cause death: 1/14 vs. 8/15, P=0.014; cardiac death: 0 vs. 9/20, P=0.027). Kaplan-Meier survival analysis showed significant difference of survival rates between patients with combination of immune suppressors and controls (Log Rank χ2=6.001, HR=7.58, P=0.014), as well as between patients with β receptor blockers and controls (Log Rank χ2=4.589, HR=2.95, P=0.032).@*Conclusions@#We recommend a management strategy that emphasize both primary disease controlling and cardiac remodeling improvement in patients with inflammatory myopathy-associated cardiomyopathy. On the basis of sufficient glucocorticoids, intravenous gamma globulin, steroid pulse therapy, combination of methotrexate plus other immune suppressants, and β receptor blockers were worthy to be considered.
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In this case, the patient was diagnosed with rheumatoid arthritis 5 years back. She had also developed symptomatic autoimmune hypothyroidism before 2 years which was managed by levothyroxine. She presented this time with inflammatory myopathy. The search of literature revealed very few cases having all these together. Inflammatory myopathies are heterogeneous group of disorders which include polymyositis (PM), dermatomyositis, and inclusion body myositis. Many features of these disorders overlap. These three conditions (rheumatoid arthritis, hypothyroidism, and PM) have similarities in genetic etiology and presentation. The association between them is discussed here