Immune cell profiles of idiopathic inflammatory myopathy patients expressed anti-aminoacyl tRNA synthetase or anti-melanoma differentiation-associated gene 5 autoantibodies.

BACKGROUND: Patients with idiopathic inflammatory myopathy (IIM) often express a different type of myositis-specific autoantibodies (MSAs), each associated with different clinical symptoms. Understanding the immunopathogenesis of various IIM subgroups can help improve the diagnosis and prognosis of IIM patients with different MSAs. However, the immune cell profiles of these IIM patients with anti-aminoacyl tRNA synthetase (ARS) or anti-melanoma differentiation-associated gene 5 (MDA5) autoantibodies remain unclear. We focused on the immune cell profiles of IIM patients with anti-ARS or anti-MDA5 autoantibodies. RESULTS: The peripheral blood from IIM patients with anti-MDA5 autoantibody (MDA5 + group, n = 24) or one of the anti-ARS autoantibodies (ARS + group, n = 40) autoantibodies, and healthy controls (HC group, n = 60) were collected and examined. We found that IIM patients had a lower CD3 T cell population compared to the HC group. IIM patients showed a significantly lower TN cell population and a higher TEMRA cell population. Higher Th17 and Treg cell populations were found in these IIM patients than in the HC group. In these IIM patients, the MDA5 + group exhibited the higher percentages of Th17 and Treg cells than the ARS + group. It is noteworthy that the percentage of Th1 cells in the survival subgroup was higher than in the death subgroup in IIM patients with ARS + or MDA5 + . Furthermore, in the MDA5 + group, the percentage of Treg cells was higher in the survival subgroup compared to the death subgroup. CONCLUSIONS: Our study demonstrated that elevated Th1 may be a good prognostic indicator in IIM patients with ARS + or MDA5 + . Elevated Treg may also help predict a good prognosis in MDA5 + IIM patients. However, more large-scale studies and clinical samples are needed to verify the significance of Th1 and Treg cell subsets in clinical outcomes for these IIM patients with ARS + or MDA5 + . These data may help design a therapeutic approach that specifically targets the pathogenic immune molecular responsible for autoimmune attacks in IIM.

Subcutaneous immunoglobulin for patients with idiopathic inflammatory myopathies: a real-world single centre experience.

OBJECTIVES: Idiopathic inflammatory myopathies (IIMs) are heterogeneous diseases characterized by skeletal muscle inflammation associated with cutaneous, pulmonary, and/or other visceral organ involvement. Intravenous immunoglobulin (IVIG) has been recommended as an adjunct therapy for IIM patients refractory to conventional therapy. However, IVIG has high resource needs and increased risk of adverse reactions. Subcutaneous immunoglobulin (SCIG) therapy has been used as an alternative to IVIG in primary immunodeficiencies and neuroinflammatory disorders. We assessed the satisfaction, patient preference and effectiveness in IIM patients transitioned from IVIG to SCIG. METHODS: We retrospectively reviewed consecutive 20 patients with IIM who were transitioned from IVIG to SCIG therapy for >12 months. Patient preference between IVIG vs SCIG was surveyed using a questionnaire previously used in studies with neuroinflammatory conditions. In addition, disease flares, changes in immunosuppression, cumulative prednisone doses and global disease activity were evaluated using the Myositis Intention to Treat Index (MITAX) 12-months prior to- and post-SCIG initiation. RESULTS: Most patients (78.9%) preferred SCIG over IVIG and preferred home-based therapies to hospital-based therapies. There was no significant difference in global disease activity (MITAX 3.31 vs 3.02) nor in cumulative steroid doses 12-months prior to- or post-SCIG initiation. Three patients experienced disease flares, 5 escalated in immunosuppression, while 4 patients deescalated in immunosuppressive medications. CONCLUSIONS: SCIG is preferred by most patients over IVIG without a substantial increased disease activity or need for additional corticosteroids. Future cost effectiveness studies may provide an additional rationale for utilizing SCIG over IVIG for maintenance therapy for IIM.

Revisiting idiopathic eosinophilic myositis: towards a clinical-pathological continuum from the muscle to the fascia and skin.

OBJECTIVES: Idiopathic inflammatory myopathies are mainly defined by inflammatory infiltrates within the muscle (lymphocytes and macrophages). Eosinophil muscle infiltration has been described in idiopathic eosinophilic myositis (IEM) and rarely in EF. This study aimed to further delineate the nosological frame of idiopathic eosinophil muscle infiltration through the exhaustive analysis of IEM and EF patients. METHODS: This multicentre retrospective case series included IEM patients diagnosed between 2000 and 2022. IEM inclusion criteria were eosinophilic muscle infiltration with myositis pathological features, after the exclusion of differential diagnoses. An additional group of EF patients diagnosed between 2016 and 2022 was constituted. Inclusion criteria were an EF diagnosis and fascia thickening with inflammatory infiltrate. RESULTS: A total of 20 IEM cases and 10 EF cases were included. The median (interquartile range) age at diagnosis was 65 (49-70) years; there were 18 males. Data analysis delineated four subgroups: focal EM (FEM, n = 3), diffuse EM (DEM, n = 6), eosinophilic myofasciitis (EMF, n = 11) and EF (n = 10). FEM represented a limited and benign form of myositis. DEM cases presented objective muscle impairment with eosinophilic muscle infiltration. EMF patients presented subjective muscle impairment (myalgia, 55%), fasciitis (on histology and/or imaging), eosinophilic muscle infiltration and frequent hypereosinophilia (55%). EF patients presented myalgia (50%), muscle lesions on histology with fascia-restricted inflammatory infiltrates with (60%) or without (40%) eosinophils. CONCLUSIONS: The analysis of IEM and EF patient characteristics delineates four subgroups (FEM, DEM, EMF and EF) in terms of clinical, laboratory, imaging, pathological and outcome specificities, and proposes an adapted diagnostic and care management approach.

Performance of cut-offs adjusted with positive control band intensity in line-blot assays for myositis-specific antibodies.

The diagnostic performance of band intensity (BI) cut-offs, adjusted by a positive control band (PCB) in a line-blot assay (LBA) for myositis-related autoantibodies (MRAs) is investigated. Sera from 153 idiopathic inflammatory myositis (IIM) patients with available immunoprecipitation assay (IPA) data and 79 healthy controls were tested using the EUROLINE panel. Strips were evaluated for BI using the EUROLineScan software, and the coefficient of variation (CV) was calculated. Sensitivity and specificity, area under the curve (AUC), and the Youden's index (YI) were estimated at non-adjusted or PCB-adjusted cut-off values. Kappa statistics were calculated for IPA and LBA. Although inter-assay CV for PCB BI was 3.9%, CV was 12.9% in all samples, and a significant correlation was found between BIs of PCB and seven MRAs (all P < 0.05). At adjusted BI (aBI) > 10, the negative conversion rate of myositis-specific autoantibody (MSA)-positivity at BI > 10 was 11.5% in controls and 1.3% in patients. The specificity, AUC, and YI for MSAs at aBI > 10 or > 20 were higher than those at non-adjusted cut-off values. Additionally, AUC (0.720), YI (0.440), and the prevalence of MRAs with kappa > 0.60 (58.3%) were the highest at aBI > 20. The overall sensitivity and specificity for MSAs were 50.3% and 93.7% at aBI > 20, respectively, and 59.5% and 65.8% with BI > 10, respectively. The diagnostic performance of LBA can be improved using PCB-adjusted BIs. aBI > 20 is the optimal cut-off for IIM diagnosis using the EUROLINE LBA panel.

Role of MRI in idiopathic inflammatory myopathies: a review article.

Idiopathic inflammatory myopathies are a rare heterogeneous group of chronic, autoimmune conditions characterized by the slow, progressive weakness of the skeletal muscles and inflammatory infiltrates in the muscle tissue. The predominant role of magnetic resonance imaging (MRI) in myositis imaging is to assess disease activity and to identify the target site for biopsy. Its role in phenotyping the disease is less explored. The aim of the present review was to examine the role of MRI in differentiating between the common inflammatory myopathies, i.e. dermatomyositis, polymyositis, and sporadic inclusion body myositis, and to describe the specific spectrum of MRI findings in various inflammatory myopathies.

External validation of the EULAR/ACR idiopathic inflammatory myopathies classification criteria with a Japanese paediatric cohort.

OBJECTIVES: To assess the performance of the EULAR/ACR idiopathic inflammatory myopathies (IIMs) classification criteria to classify juvenile IIMs (JIIMs) in an Asian paediatric population. METHODS: Sixty-eight JIIM patients and 49 non-JIIM patients diagnosed at seven major paediatric rheumatology centres in Japan between 2008 and 2015 were enrolled. Retrospective data were collected, and each patient's data form was submitted. The expert group reviewed the forms and re-examined the diagnoses. The EULAR/ACR criteria were then applied and the probability of having JIIM was determined for each case. The sensitivity and specificity of the EULAR/ACR criteria were compared with those of other existing criteria. RESULTS: The sensitivity/specificity of the EULAR/ACR classification criteria were 92.1/100% with muscle biopsy data (n = 38); 86.7/100% without muscle biopsy data (n = 30) and 89.7/100% in our total cohort (n = 68). The sensitivity of Bohan and Peter's criteria and Tanimoto's criteria were 80.9 and 64.7% in our total cohort, respectively. Among 68 physician-diagnosed JIIM patients, seven cases (three JDM and four overlap myositis) were not classified as JIIM because the probability did not reach the cut-off point (55%). The three JDM patients all presented with only one of the three skin manifestations that are listed in the criteria: Gottron's sign. CONCLUSION: Our validation study with Japanese JIIM cases indicates that the EULAR/ACR classification criteria for IIM generally perform better than existing diagnostic criteria for myositis.

Lung ultrasound B-lines and serum KL-6 correlate with the severity of idiopathic inflammatory myositis-associated interstitial lung disease.

OBJECTIVE: Idiopathic inflammatory myositis-associated interstitial lung disease (IIM-ILD) significantly increases morbidity and mortality. Lung ultrasound B-lines and Krebs von den Lungen-6 (KL-6) are identified as new sonographic and serum markers of ILD, respectively. The aim of our work was to assess the role of B-lines and KL-6 as markers of the severity of IIM-ILD. For this purpose, the correlation among B-lines score, serum KL-6 levels, high-resolution CT (HRCT) score, and pulmonary function tests were investigated in IIM-ILD patients. METHODS: Thirty-eight patients with IIM-ILD underwent chest HRCT scans, lung ultrasound and pulmonary function tests (independently performed within 1 week) examination. To assess severity and extent of ILD at HRCT, the Warrick score was used. The B-lines score denoting the extension of ILD was calculated by summing the number of B-lines on a total of 50 scanning sites. Serum KL-6 levels (U/ml) was measured by chemiluminescent enzyme immunoassay. RESULTS: A significant correlation was found between the B-lines score and serum KL-6 levels (r = 0.43, P < 0.01), and between the Warrick score and serum KL-6 levels (r = 0.45, P < 0.01). A positive correlation between B-lines score and the Warrick score (r = 0.87, P < 0.0001) was also confirmed. Both B-lines score and KL-6 levels inversely correlated to diffusion capacity for carbon monoxide (r = -0.77, P < 0.0001 and r = -0.42, P < 0.05, respectively) and total lung capacity (r = -0.73, P < 0.0001 and r = -0.36, P < 0.05, respectively). Moreover, B-lines correlated inversely with forced vital capacity (r = -0.73, P < 0.0001), forced expiratory volume in 1 s (r = -0.69, P < 0.0001). CONCLUSION: B-lines score and serum KL-6 levels correlate with HRCT findings and pulmonary function tests, supporting their use as measures of IIM-ILD severity.

Increased risk of coronary heart disease among patients with idiopathic inflammatory myositis: a nationwide population study in Taiwan.

OBJECTIVE: To evaluate the risk of incident coronary heart disease (CHD) among patients with DM and PM in a general population context. METHODS: We conducted a retrospective cohort study using the Taiwan National Health Insurance Research Database containing records covering the years from 2000 to 2010. DM and PM were confined for the purposes of this study to those aged ⩾18 years who were eligible for the Taiwan catastrophic illness certificate. The diagnoses, CHD outcomes and cardiovascular risk factors were identified from electronic claims data. We conducted two cohort analyses: CHD and DM, and CHD and PM, excluding for each analysis individuals with CHD already identified at baseline. Data for the comparison group was obtained from the Longitudinal Health Insurance database, comprising 1 million persons randomly sampled from the total beneficiaries during 2000. We estimated hazard ratios comparing myositis with comparison cohorts, adjusting for potential cardiovascular risk factors. RESULTS: A total of 1145 patients with idiopathic myositis were identified, along with 732 723 control patients aged ⩾18 years. The incidence rates of CHD were 15.1 in DM and 30.1 in PM per 1000 person-years, vs 8.4 and 10.5 per 1000 person-years in the comparison cohort. The adjusted hazard ratios for CHD in patients with idiopathic myositis were 2.21 (95% CI 1.64, 2.99) for DM and 3.73 (95% CI 2.83, 4.90) for PM. CONCLUSION: Results of this general population-based cohort study suggest that DM and PM are associated with an increased risk of CHD.

Development and validation of a composite disease activity score for measurement of muscle and skin involvement in juvenile dermatomyositis.

OBJECTIVE: To develop a composite DAS for JDM and provide preliminary evidence of its validity. METHODS: The Juvenile DermatoMyositis Activity Index (JDMAI) is composed of four items: physician's global assessment of overall disease activity; parent's/child's global assessment of child's wellbeing; measurement of muscle strength; and assessment of skin disease activity. The score of the JDMAI is the arithmetic sum of the scores of each individual component. Six versions of the JDMAI were tested, which differed in the tools used to assess the third and fourth items. Validation procedures were conducted using three large multinational patient samples including a total of 627 patients. RESULTS: The JDMAI was found to possess face and content validity, good construct validity, satisfactory internal consistency (Cronbach's alpha = 0.58-0.89), fair responsiveness to clinically important change (standardized response mean = 0.82-3.12 among patients improved) and strong capacity to discriminate patients judged as being in the state of inactive disease or low, moderate or high disease activity by the physician (P < 0.001) or whose parents were satisfied or not satisfied with the course of their child's illness (P < 0.001). Overall, the six versions of the JDMAI showed similar metrological performances in validation analyses. CONCLUSION: The JDMAI was found to possess good measurement properties in a large population of patients with a wide range of disease activity, and is, therefore, suitable for use in both clinical and research settings. The final version of the JDMAI will be selected after its prospective validation.

Screening for Myositis Antibodies in Idiopathic Interstitial Lung Disease.

PURPOSE: International guidelines recommend screening for connective tissue disease (CTD) with autoantibodies when evaluating patients with idiopathic interstitial lung disease (ILD). Idiopathic inflammatory myositis comprises of a subgroup of CTD diagnosed with myositis antibodies (MA), often presenting with ILD. Our aim was to evaluate the utility of MA screening in patients with idiopathic ILD. METHODS: A retrospective analysis was conducted on patients referred with idiopathic ILD to a tertiary centre ILD clinic who were screened for MA. Patients with known or suspected CTD were excluded. Descriptive statistics, univariate analysis and multivariable logistic regression were used to detect associations between MA and patient characteristics. RESULTS: Of 360 patients, 165 met inclusion criteria and 44 (26.7%) were identified to have MA. Fourteen patients (8.5%) had a change in diagnosis as a result of MA screening. Multivariable logistic regression identified the presence of MA to be associated with current smoking [OR 6.87 (1.65-28.64), p = 0.008] and a diffusing capacity of < 70% predicted [OR 2.55 (1.09-5.97), p = 0.03]. In patients with a change in diagnosis due to MA screening, 3 (1.8%) underwent a surgical lung biopsy and 2 (1.2%) were previously treated with antifibrotic therapy. CONCLUSIONS: Screening for MA in patients with idiopathic ILD can contribute to a change in patient diagnosis, and may prevent invasive testing and unproven use of antifibrotic therapy. These results support the addition of MA to CTD screening panels during the initial evaluation of idiopathic ILD.

Mortality and prognostic factors in idiopathic inflammatory myositis: a retrospective analysis of a large multicenter cohort of Spain.

The present study was undertaken to assess mortality, causes of death, and associated prognostic factors in a large cohort of patients diagnosed with idiopathic inflammatory myositis (IIM) from Spain. A retrospective longitudinal study was carried out in 467 consecutive patients with IIM, identified from 12 medical centers. Patients were classified as primary polymyositis, primary dermatomyositis (DM), overlap myositis, cancer-associated myositis (CAM), and juvenile idiopathic inflammatory myopathies. A total of 113 deaths occurred (24%) after a median follow-up time of 9.7 years. In the overall cohort, the 2-, 5-, and 10-year survival probabilities were 91.9, 86.7, and 77%, respectively. Main causes of death were infections and cancer (24% each). Multivariate model revealed that CAM (HR = 24.06), OM (HR = 12.00), DM (HR = 7.26), higher age at diagnosis (HR = 1.02), severe infections (HR = 3.66), interstitial lung disease (HR = 1.61), and baseline elevation of acute phase reactants (HR = 3.03) were associated with a worse prognosis, while edema of the hands (HR = 0.39), female gender (HR = 0.39), and longer disease duration (HR = 0.73) were associated with a better prognosis. The standardized mortality ratio was 1.56 (95% CI 1.28-1.87) compared to the Spanish general population. Our findings indicate that IIM has a high long-term mortality, with an excess of mortality compared to the Spanish population. A more aggressive therapy may be required in IIM patients presenting with poor predictive factors.

Breast cancer and dermatomyositis: a case study and literature review.

A 49-year-old woman presents with an extensive violaceous rash, rapidly progressive proximal muscle weakness, and dysphagia to solids, consistent with a diagnosis of dermatomyositis. Two weeks later, she palpates a mass in her left breast and is diagnosed with her2-positive metastatic invasive ductal carcinoma of the breast. There is a well-established association between dermatomyositis and malignancy. However, the specific association between breast cancer and dermatomyositis has not been well characterized. No guideline for oncologists managing these patients has been established. Recently, 3 cases of breast cancer and dermatomyositis were diagnosed at our institution. A review of the literature was pursued to characterize the association between breast cancer and dermatomyositis. A review of 178 papers identified 22 cases of breast cancer with dermatomyositis. Most patients (71%) presented with stage iii or iv breast cancer. The median time between the diagnosis of breast cancer and the onset of dermatomyositis symptoms was 1 month. Three quarters of the patients were steroid-responsive and able to taper. Half the women with follow-up data experienced a documented cancer relapse associated with a new flare of cutaneous symptoms. The presence of dermatomyositis appears to be associated with more-advanced breast cancer stage and is most commonly associated with invasive ductal carcinoma. In our review, treatment of cancer alone is insufficient to adequately control the cutaneous and myopathic manifestations of dermatomyositis, which can significantly affect quality of life. A multidisciplinary approach, including close collaboration with rheumatologists and dermatologists, is therefore important in the diagnosis and management of oncology patients with dermatomyositis.

Rituximab therapy in patients with refractory dermatomyositis or polymyositis: differential effects in a real-life population.

OBJECTIVES: While a double-blind trial has not met its endpoint, rituximab (RTX) is still seen as useful in refractory DM and PM. In this study we analysed the charts of all patients receiving RTX for myositis in our institutions for objective outcome parameters. METHODS: In a retrospective way, the charts of all patients with PM or DM who received RTX were analysed for glucocorticoid dose, creatine phosphokinase (CPK) and lung function tests, as well as for serious adverse events. RESULTS: A total of 19 patients were identified, 1 of whom died from aspiration pneumonia 3 weeks after the first RTX infusion. The charts of 18 patients (13 PM, 5 DM) could be further analysed. In addition to the fatal pneumonia, six more severe infections were seen. One patient developed hypogammaglobulinaemia. Two patients had mild infusion reactions. Under RTX, both CPK and daily prednisolone dose were reduced by week 18. Six of eight patients with alveolitis improved under RTX. Overall, 9 of 13 PM patients responded. Six of the responders and two patients without documented response, all anti-synthetase syndrome patients, were re-treated. In contrast, all five DM patients responded and none required re-treatment. CONCLUSION: In a real-life population of patients with severe, refractory PM or DM, objective improvement was seen in the majority of patients with regard to CPK and lung function tests, and glucocorticoids could be reduced. In contrast to the subgroup with DM, where one cycle of RTX appeared sufficient, patients with anti-synthetase syndromes commonly experienced flares necessitating RTX re-treatment. Infections are of concern.

Peripheral Blood Lymphocyte Subsets and Heterogeneity of B Cell Subsets in Patients of Idiopathic Inflammatory Myositis with Different Myositis-specific Autoantibodies.

Idiopathic inflammatory myopathies (IIM) are a group of myopathies that present with muscle weakness and multiple extra-muscular manifestations, in which lymphocytes play central roles in myositis pathogenesis. This study aimed to explore the clinical characteristics of lymphocyte subsets, especially B cell subsets, in patients with IIM. Our study included 176 patients with active IIM and 210 gender/age-matched healthy controls (HCs). Compared to HCs, patients have reduced counts of T cells, B cells, and natural killer cells. In addition, B cell subsets from 153 patients with IIM and 92 HCs were characterized. Patients had a lower percentage of memory B cells and translational memory B cells, while those patients were with an elevated percentage of CD19+ B cells, plasmablast and naïve B cells compared with HCs. Moreover, to further explore the heterogeneity of B cells in IIM, patients were categorized into three clusters based on clustering analysis. Cluster 1 was dominated by CD19+ B cells, Bregs and naïve B cells, cluster 3 was dominated by memory B cells and plasmablast, and cluster 2 had the highest proportion of translational memory B cells. Notably, patients in cluster 1 presented with higher CK levels, indicating muscle damage, whereas patients in cluster 3 showed a higher incidence of chest tightness. Our study indicated that lymphopenia is a common manifestation in patients with IIM. B cell subsets are abnormally expressed and showed high heterogeneity in patients with IIM. The patients with IIM were divided into three different clusters with different percentages of chest tightness and distinct CK levels.

Clinical Features and Outcomes of Patients with Idiopathic Inflammatory Myositis-Associated Interstitial Lung Disease in Rural Appalachia: A Cross-Sectional Study.

BACKGROUND: Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders often complicated by interstitial lung disease (ILD). The clinical characteristics and outcomes of IIM-associated ILD have been reported variably, but the literature on rural populations is scarce. METHODS: A retrospective cross-sectional study was conducted at a rural tertiary academic medical center. Twenty-nine patients met the final inclusion criteria. The primary outcome was to assess the disease state and immunological and radiographic features of IIM-associated ILD. Secondary outcomes included disease progression, ILD exacerbation, mortality rate, and factors associated with poor outcome. RESULTS: Dermatomyositis (n = 15, 51.72%) followed by polymyositis (n = 8, 27.58%) were predominant myopathies. The most common autoantibodies were anti-Jo1 antibodies (n = 11, 37.93%). Indeterminate usual interstitial pneumonitis (41.30%, n = 12) was the most common radiographic pattern followed by non-specific interstitial pneumonia (n = 5, 17.24%). ILD exacerbation (n = 14, 66.66%) and mortality rate (n = 6, 20.69%) were high. Albumin levels were significantly lower in patients who died. CONCLUSIONS: The clinical characteristics of patients with IIM-associated ILD in rural Appalachia exhibit notable distinctions, and outcomes are worse compared to other populations. Larger studies are needed to investigate other prognostics factors and longitudinal trends of clinical characteristics and outcomes of IIM-associated ILD in rural populations.

Low serum complements in idiopathic inflammatory myositis: clinical features and impact on the prognosis.

This study investigated the clinical features and prognostic relevance of decreased serum complement levels in patients with idiopathic inflammatory myositis (IIM). The clinical information of IIM patients with less than normal serum complement levels (L-Com) and that of those with normal serum complement levels (N-Com) was compared. In patients with interstitial lung disease (ILD), regression analyses were used to investigate the implication of L-Com in their PaO2/FiO2 (P/F) ratio. Prognostic outcomes of ILD were evaluated using the log-rank test. Of 94 IIM patients, 26 with L-Com (median age, 56.0 years) and 68 with N-Com (56.5 years) were included. The prevalence of women was significantly higher in patients with L-Com (92.3%) than in those with N-Com (67.6%). ILD was observed in 17 (65.4%) patients with L-Com and in 46 (67.6%) with N-Com. Among patients with ILD, the P/F ratio was significantly lower in those with L-Com than in those with N-Com. Serum C3 levels were correlated with decreased P/F ratio. Inferior prognosis of ILD was significantly demonstrated in patients with L-Com, especially in those positive for anti-melanoma differentiation-associated protein 5 antibody. L-Com may be implicated in reduced arterial oxygen levels and a poorer prognosis in patients with IIM-related ILD.

Anasarca and spontaneous intramuscular haemmorhage in a dermatomyositis patient: case report and review of the literature.

Dermatomyositis is a rare, autoimmune systemic disorder of unknown aetiology that presents as a constellation of clinical symptoms and signs primarily affecting skin and muscles. Patients with dermatomyositis can present with rare "non-canonical" manifestations. Focal or generalised oedema is an infrequent and often overlooked symptom of the disease, while spontaneous intramuscular haemorrhage is an even rarer and under-recognised, life-threatening complication that constitutes a medical emergency for clinical physicians. There are no known predisposing factors able to predict which patients will develop this complication and specific instructions considering treatment approach are currently lacking. Herein, we present a case of a patient with dermatomyositis complicated by both anasarca and spontaneous intramuscular haemorrhage. In order to raise awareness and timely diagnosis of such patients, we provide a review of the relevant literature and of the cases reported this far.

Clinical and laboratory characteristics of idiopathic inflammatory myositis in Saudi patients: A retrospective study in a single tertiary centre.

OBJECTIVES: Idiopathic inflammatory myositis (IIM) in Saudi patients has been poorly studied owing to the lack of available data. This study aimed to identify the clinical and laboratory features of patients at a single tertiary care center. METHODS: This retrospective study reviewed the medical records of Prince Sultan Military Medical City, Riyadh, Saudi Arabia to collect clinical and laboratory data between December 2022 and February 2017 as follows: age at disease onset, gender, follow-up duration and disease duration; clinical symptoms; laboratory result; presence and type of myositis-specific autoantibody or myositis-associated autoantibody; and type of immunosuppression, presence of malignancy, disease course, and outcome. RESULTS: There were 26 patients with a mean age of 36.16±13.48, and 84.6% were women. The most prevalent form of IIM was dermatomyositis (n=16, 61.5%), and the most affected organ was the skin. weakness was observed in 25 patients (96.2%), and dysphagia was the most common alarm sign (n=10, 38.5%). During follow-up, the creatine kinase level was elevated at the beginning of the disease and then decreased following treatment, with a mean of 277.73 IU/L. Of the total patients, 17 (68%) were positive for anti-nuclear antibody and 5 (19.2%) were positive for anti-Jo-1. CONCLUSION: In our patients, dermatomyositis was the most common form of myositis, and skin manifestations were the most prevalent clinical characteristics. None of the patients developed a malignancy or died.

Assessment of cardiovascular risk factors in patients with idiopathic inflammatory myopathies: a systematic review.

We performed a systematic review of cardiovascular risk factors in idiopathic inflammatory myopathies (IIMs) and their cardiovascular outcomes, including acute coronary syndrome and stroke. A qualitative systematic review was conducted from January 1956 to December 2022 according to the PRISMA protocol using three electronic databases: PubMed, Web of Science, and Scopus. The studies were analyzed based on the following eligibility criteria: at least one combination of the terms described in the search strategy appeared in the title, written in English, Portuguese, or Spanish, and addressed risk factors for cardiovascular diseases in IIMs. Brief reports, reviews, papers addressing juvenile IIMs, congress proceedings, monographs, and dissertations were excluded. Twenty articles were included. According to the literature, most patients with IIMs are middle-aged North American or Asian women, with dyslipidemia and hypertension. The prevalence of the cardiovascular risk factors was generally low in IIMs, but with a high incidence of acute myocardial infarction. Further theoretical and prospective studies are needed to define the actual impact of each variable (e.g., hypertension, diabetes, smoking, alcoholism, obesity, and dyslipidemia) on the cardiovascular risk of patients with IIMs.

Clinical Characteristics of Anti-Synthetase Syndrome and Variables Associated with Interstitial Lung Disease and Mortality: A Retrospective Cohort Study.

Anti-synthetase syndrome (ASS) is a rare autoimmune disease. Since the knowledge of ASS remains limited, we conducted the retrospective study aiming to describe clinical characteristics and identify variables associated with interstitial lung disease (ILD) and mortality among patients with ASS. Patients diagnosed with ASS from January 2013 to October 2022 were included. Patient demographics, clinical manifestations, myositis auto-antibody profiles, HRCT findings, and laboratory tests were collected. Variables associated with mortality risk and ILD were evaluated using the Cox proportional hazards model and the logistic regression model, respectively. A total of 82 patients with ASS were included. Clinical manifestations included arthritis (57%), Raynaud's phenomenon (32%), mechanic's hands (29%), fever (26%), and myositis (17%). The myositis auto-antibody profiles included anti-PL-7 (29%), anti-Jo-1 (27%), anti-EJ (17%), anti-PL-12 (16%), and anti-OJ (11%). ILD was observed in 64 patients (78%). Among patients with ILD, 21 initially presented with ILD before developing other ASS clinical manifestations, 29 simultaneously presented with ILD and other symptoms, and 14 had isolated ILD throughout follow-up. Overall, 6 patients presented with rapid-progressive ILD. With a median follow-up time of 2.5 years, mortality was observed in 10 patients (12.2%). Factors associated with mortality included increased lymphocyte counts (adjusted HR, 0.74; 95% CI, 0.61-0.91; p < 0.01), isolated ILD (adjusted HR, 9.59; 95% CI, 1.52-60.61; p = 0.02) and the presence of anti-Ro52 antibodies (adjusted HR, 0.14; 95% CI, 0.02-0.93; p = 0.04). Factors associated with ILD included age (adjusted OR, 1.10; 95% CI, 1.03-1.18; p = 0.01), presence of anti-Ro52 antibodies (adjusted OR, 17.92; 95% CI, 2.13-138.68; p = 0.01), and presence of arthritis (adjusted OR, 0.09; 95% CI, 0.01-0.75; p = 0.03). Our study demonstrated a favorable overall mortality rate among ASS patients.