Myositis Research Articles

Incidence and prevalence of idiopathic inflammatory myopathies in Thailand from the Ministry of Public Health data analysis

The epidemiology of idiopathic inflammatory myopathies (IIMs) varies by country. Investigating the epidemiological profile among Thai IIMs could help to inform public health policy, potentially leading to cost-reducing strategies. We aimed to assess the prevalence and incidence of IIM in the Thai population between 2017 and 2020. A descriptive epidemiological study was conducted on patients 18 or older, using data from the Information and Communication Technology Center, Ministry of Public Health, with a primary diagnosis of dermatopolymyositis, as indicated by the ICD-10 codes M33. The prevalence and incidence of IIMs were analyzed with their 95% confidence intervals (CIs) and then categorized by sex and region. In 2017, the IIM cases numbered 9,074 among 65,204,797 Thais, resulting in a prevalence of 13.9 per 100,000 population (95% CI 13.6–14.2). IIMs were slightly more prevalent among women than men (16.8 vs 10.9 per 100,000). Between 2018 and 2020, the incidence of IIMs slightly declined from 5.09 (95% CI 4.92–5.27) in 2017 and 4.92 (95% CI 4.76–5.10) in 2019 to 4.43 (95% CI 4.27–4.60) per 100,000 person-years in 2020. The peak age group was 50–69 years. Between 2018 and 2020, the majority of cases occurred in southern Thailand, with incidence rates of 7.60, 8.34, and 8.74 per 100,000 person-years. IIMs are uncommon among Thais, with a peak incidence in individuals between 60 and 69, especially in southern Thailand. The incidence of IIMs decreased between 2019 and 2020, most likely due to the COVID-19 pandemic, which reduced reports and investigations.

Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study.

Sporadic inclusion body myositis (sIBM) is the predominant idiopathic inflammatory myopathy (IIM) in older people. Limitations of classical clinical assessments have been discussed as possible explanations for failed clinical trials, underlining the need for more sensitive outcome measures. Quantitative muscle MRI (qMRI) is a promising candidate for evaluating and monitoring sIBM. Longitudinal assessment of qMRI in sIBM patients. We evaluated fifteen lower extremity muscles of 12 sIBM patients (5 females, mean age 69.6, BMI 27.8) and 12 healthy age- and gender-matched controls. Seven patients and matched controls underwent a follow-up evaluation after one year. Clinical assessment included testing for muscle strength with Quick Motor Function Measure (QMFM), IBM functional rating scale (IBM-FRS), and gait analysis (6-minute walking distance). 3T-MRI scans of the lower extremities were performed, including a Dixon-based sequence, T2 mapping and Diffusion Tensor Imaging. The qMRI-values fat-fraction (FF), water T2 relaxation time (wT2), fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (λ1), and radial diffusivity (RD) were analysed. Compared to healthy controls, significant differences for all qMRI parameters averaged over all muscles were found in sIBM using a MANOVA (p < 0.001). In low-fat muscles (FF < 10%), a significant increase of wT2 and FA with an accompanying decrease of MD, λ1, and RD was observed (p≤0.020). The highest correlation with clinical assessments was found for wT2 values in thigh muscles (r≤-0.634). Significant changes of FF (+3.0%), wT2 (+0.6 ms), MD (-0.04 10-3mm2/s), λ1 (-0.05 10-3mm2/s), and RD (-0.03 10-3mm2/s) were observed in the longitudinal evaluation of sIBM patients (p≤0.001). FA showed no significant change (p = 0.242). qMRI metrics correlate with clinical findings and can reflect different ongoing pathophysiological mechanisms. While wT2 is an emerging marker of disease activity, the role of diffusion metrics, possibly reflecting changes in fibre size and intracellular deposits, remains subject to further investigations.

Evaluating CA-125 and PET/CT for cancer detection in idiopathic inflammatory myopathies.

This study aims to evaluate the diagnostic accuracy of CA-125 and PET/CT in detecting cancer among adult patients with idiopathic inflammatory myopathy (IIM). We conducted a retrospective study of a single-centre cohort of adult IIM patients enrolled from 2003 to 2020. Data on CA-125 and PET/CT tests conducted within five years of IIM symptom onset were extracted from electronic medical records. The outcomes assessed included true positive, false-positive, true negative, and false-negative results. Among 1432 patients with IIM, 250 CA-125 tests were conducted on 205 patients within the first five years of symptom onset, yielding a false-positive rate of 3.1% and a false-negative rate of 14.3%. Most false positives were associated with endometriosis or uterine fibroids, but additional medical procedures were often carried out to investigate the false-positive results. For PET/CT, 149 tests were performed on 139 patients, resulting in a false-positive rate of 5.5% and a false-negative rate of 28.6%. Lymphadenopathy and lung nodules were the predominant causes of false positives, while melanoma, low-stage breast cancer, and prostate cancer were the most frequent cancers missed (false negatives). False positive and false-negative results are prevalent in CA-125 and PET/CT testing for adult patients with newly diagnosed idiopathic inflammatory myopathy. Understanding the causes of these inaccuracies can aid clinicians in making informed decisions during patient care.

Idiopathic Inflammatory Myopathies-associated Interstitial Lung Disease in Adults.

Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of autoimmune diseases characterized by muscle involvement and various extramuscular manifestations. Interstitial lung disease (ILD) is one of the most common extramuscular manifestations of IIM and is associated with significant mortality and morbidity. The clinical phenotypes, treatment responses, and prognosis of IIM-ILD are significantly related to myositis-specific antibody (MSA) profiles, with some racial differences. The features associated with MSA in IIM-ILD could also be relevant to cases of ILD where MSA is present but does not meet the criteria for IIM. The anti-melanoma differentiation-associated gene 5 antibody is highly associated with rapidly progressive ILD (RP-ILD), especially in Asian populations, and with characteristic cutaneous manifestations, such as skin ulcers. Radiologically, ground-glass opacities, consolidations, and nonsegmental linear opacities were more predominant than reticular opacities and honeycombing. While the mortality rate is still around 30%, the prognosis can be improved with early intensive therapy with corticosteroids and multiple immunosuppressants. In contrast, anti-aminoacyl-tRNA synthetase (ARS) antibodies are associated with chronic ILD, although RP-ILD is also common. Patients with anti-ARS antibodies often show lung-predominant presentations, with subtle muscle and skin involvement. Radiologically, reticular opacities, with or without consolidation, are predominant and may progress to honeycombing over time. Combination therapy with corticosteroids and a single immunosuppressant is recommended to prevent relapses, which often lead to a decline in lung function and fatal long-term outcomes. Significant advances in immunology and genetics holds promise for fostering more personalized approaches to managing IIM-ILD.

Management of bone health in idiopathic inflammatory myopathies: A two-center audit in the United Kingdom and Hong Kong.

Patients with inflammatory idiopathic myopathies (IIM) face elevated risks of osteoporosis and fragility fracture. To evaluate current practice relating to bone health in adult patients with IIM in the United Kingdom and Hong Kong (HK). Patients were identified from IIM patient lists. Demographics, osteoporosis risk factors, DXA scans, and bone protection treatment were recorded. Adherence to regional standards was evaluated for each center. Following this, in the United Kingdom, up-to-date DXA scans were performed. Of 136 patients identified, 51 met selection criteria (UK, n = 20, HK, n = 31). Mean age in the United Kingdom was 59 (IQR 54-66); in Hong Kong, 65 (IQR 52.5-70). Most were female (UK 70%; HK 77%), current or previous steroid treatment was common (UK 90%; HK 100%) and some had experienced fragility fracture (UK 15%; HK 9%). The mean daily dose of prednisolone that patients were prescribed during the study was 12.5 mg (UK) and 14.3 mg (HK). Some patients had had a DXA scan (UK 50%; HK 35%) though several were outdated. Among those with BMD measured (UK, n = 20; HK, n = 11), osteopenia prevalence was 35% (UK) and 36% (HK) while osteoporosis was 5% (UK) and 36% (HK). Notably, 25% (UK) and 64% (HK) exceeded treatment thresholds. Treatments included anti-osteoporotic agents (UK 55%; HK 15%), Vitamin D/calcium supplements (UK 95%; HK 52%), or no treatment (UK 5%, HK 15%). Poor compliance with guidelines exists in both centers, particularly around investigation and monitoring of bone health for IIM patients. Integrated care models and increased resource allocation to bone health are imperative to improve management of this aspect of IIM.

Causality between autoimmune diseases and breast cancer: a two-sample Mendelian randomization study in a European population

BackgroundThe incidence of autoimmune diseases and breast cancer is significantly higher in women compared to men. Previous observational studies have not conclusively determined the relationship between these two conditions. This study utilizes the Mendelian randomization approach to investigate the genetic association between autoimmune diseases and breast cancer.MethodTwo-sample Mendelian randomization was conducted on a European population using the GWAS database. The inverse variance-weighted method served as the primary analytical approach. The MR-PRESSO test was applied to detect horizontal pleiotropy. To ensure result robustness, the FDR correction method was used.ResultThe study revealed that Sjögren’s syndrome lowers the overall risk of breast cancer (OR 0.96, 95% CI [0.93–0.99], p = 0.011). Idiopathic inflammatory myopathy shows a protective effect against overall breast cancer (OR 0.98, 95% CI [0.97–0.99], p = 0.035). An association was identified between rheumatoid arthritis and overall breast cancer (OR 0.98, 95% CI [0.96–1.00], p = 0.050). No causal link was found between systemic lupus erythematosus, systemic sclerosis, and overall breast cancer. The study also suggests that Sjögren’s syndrome, rheumatoid arthritis, and idiopathic inflammatory myopathy might reduce the risk of developing HER + breast cancer. Specifically, Sjögren’s syndrome (OR = 0.90, 95% CI [0.83–0.98], p = 0.02), rheumatoid arthritis (OR = 0.94, 95% CI [0.91–0.98], p = 0.006), and idiopathic inflammatory myopathy (OR = 0.96, 95% CI [0.93–0.99], p = 0.036). Additionally, systemic lupus erythematosus was found to lower the risk of HER- breast cancer (OR = 0.95, 95% CI [0.91–0.99], p = 0.046). The study did not establish a causal relationship between these five autoimmune diseases and ER + or ER- breast cancer.ConclusionThis study found that autoimmune diseases may act as protective factors against breast cancer risk.

Case study of CD19 CAR T therapy in a subject with immune-mediate necrotizing myopathy treated in the RESET-Myositis phase I/II trial

Under compassionate use, chimeric antigen receptor (CAR) T-cells have elicited durable remissions in patients with refractory idiopathic inflammatory myopathies (IIM)1. Here, we report on the safety, efficacy, and correlative data of the first subject with the immune-mediated necrotizing myopathy (IMNM) subtype of IIM who received a fully human, 4-1BBz anti-CD19-CAR T-cell therapy (CABA-201) in the RESET-Myositis™ phase I/II trial (NCT06154252). CABA-201 was well-tolerated following infusion. Notably, no evidence of cytokine release syndrome (CRS) or immune effector-cell associated neurotoxicity syndrome (ICANS) was observed. CK levels decreased, and muscular strength improved post-infusion. Peripheral B-cells were depleted rapidly following infusion, and the subject achieved peripheral B-cell aplasia by day 15 post-infusion. Peripheral B-cells returned at 2 months post-infusion and were almost entirely transitional. Autoantibodies to SRP-9, SRP-72, SRP-54, and Ro-52, decreased relative to baseline whereas antibodies associated with pathogens and vaccinations remained stable. The infusion product consisted of predominantly CD4+ effector memory T-cells & exhibited in vitro cytolytic activity. Post-infusion, CABA-201 expansion peaked at day 15 and was preceded by a serum IFN-γ peak on day 8 with peaks in serum IL-12p40 and IP-10 on day 15. These data detail the safety, efficacy, and pharmacodynamics of CABA-201 in the first IMNM subject.

The spectrum of idiopathic inflammatory myopathies: a Tunisian cohort

Background Idiopathic inflammatory myopathies (IIM) encompass a heterogenous group of auto-immune diseases. The identification of myositis specific antibodies (MSA) and their associations with distinct phenotypes has improved the categorization of these conditions. Objective The aim of this study was to describe and report the clinical and immunological characteristics of IIM among Tunisian patients. Method A retrospective study conducted in the internal medicine department at the Rabta University Hospital Center over 22 years, including adult patients with IIM according to the American college of rheumatology/European league against rheumatism (ACR/EULAR) classification criteria and Connors’ criteria for anti-synthetase syndrome (ASS). Inclusion body myositis and myositis associated with other conditions were excluded. Demographic, clinical, and immunological characteristics were analyzed and compared. Results Ninety-seven patients were included (Male/female ratio= 0.36, mean age = 48.4 +- 13.8 years). Muscular involvement was present in 88% of patients, affecting locomotor muscles (88%), gastrointestinal (43%), laryngeal (10%), cardiac (8%), and respiratory (1%) systems. Muscle weakness was primarily noted in the pelvic girdle (81%), scapular region (74%), axial muscles (20%), and distal muscles (5%). Myolysis was observed in 77% of patients, and histological evidence of myositis in 73%. Diffuse interstitial pneumonia (DIP) was present in 45% of patients, cutaneous involvement in 85%, and articular involvement in 48%. MSAs were detected in 52% of patients. Analysis revealed significantly higher frequencies of amyopathic forms, DIP, palmar hyperkeratosis, and articular involvement in the ASS group. The DM group exhibited higher frequencies of gastrointestinal signs, Gottron’s papules, heliotrope rash, photosensitive rashes, ulcerations, and skin necrosis. The NAM group had higher frequencies of gastrointestinal signs, myolysis, and lower frequencies of DIP and cutaneous involvement. Conclusion Our findings corroborate previously established clinico-immunological associations reported in the literature underscoring the need for a combined clinico-serological approach in classifying IIM.

Clinicopathological features and treatment outcome of juvenile idiopathic inflammatory myopathies with anti-melanoma differentiation associated gene 5 antibodies: A case series study.

To characterize the clinicopathological features and treatment outcomes of juvenile idiopathic inflammatory myopathies (JIIM) with anti-melanoma differentiation associated gene 5 (MDA5) antibodies in a Chinese cohort. Anti-MDA5 antibody was detected by immunodot assay and indirect immunofluorescence assay on HEK293 cells in a series of Chinese JIIM cohort between 2005 and 2022. The clinical features, histological findings, and treatment outcomes of these anti-MDA5-antibody-positive patients were summarized. Of 59 JIIM patients, 3 (5.08%) were found to be anti-MDA5-antibody-positive. The frequency of anti-MDA5 antibody did not show significant difference between adult idiopathic inflammatory myopathies and JIIM cohorts (P = .720). The disease duration in patients with anti-MDA5 antibody was 2.83 ± 1.04 months. All 3 patients had typical skin lesions including Gottron sign and heliotrope rash, while interstitial lung disease and arthritis was only found in 1 patient. All 3 patients showed normal creatine kinase levels. On muscle biopsy, diffuse major histocompatibility complex class-I expression was seen in 3 patients and myxovirus-resistance protein A expression was found in 2 patients. All patients received long-term follow-up (6.42 ± 4.01 years). They were all drug-free and showed favorable treatment outcome with prednisone and additional immunosuppressant. Our study indicates that anti-MDA5 antibodies may not be common in Chinese JIIM. Anti-MDA5-positive JIIMs are characterized by typical skin lesions of dermatomyositis, normal CK levels, and increased major histocompatibility complex class-I expression. JIIMs with anti-MDA5 generally have good response to immunotherapies.

Heterogeneity in nomenclature and abbreviation usage for anti-synthetase syndrome: a scoping review.

Anti-synthetase syndrome constitutes a dynamically evolving subset of Idiopathic Inflammatory Myopathy, however, the nomenclature and abbreviations for this syndrome are plagued by heterogeneity, leading to lack of consistency in literature. The objective of this study is to evaluate existing diversity in disease names and abbreviations, with a future goal to develop consensus on the nomenclature. A scoping review format was used for analysis. A comprehensive PUBMED search was conducted from January 1, 1984 (the initial description of anti-synthetase autoantibodies) to November 30, 2023, encompassing all pertinent articles published within this timeframe. Search terms included, ((antisynthetase syndrome) OR (anti synthetase syndrome)) OR (anti-synthetase syndrome)). The articles were screened for presence of terminology and abbreviations used. The search yielded 936 items with the specified terms. After excluding 303 irrelevant articles and 58 non-English publications, the remaining n = 575 articles underwent detailed review of the abstract and full article. Out of n = 575, 54.7% (n = 314) used 'antisynthetase syndrome' and 43.4% (n = 249) preferred 'anti-synthetase syndrome' with few novel names also. Among these, 394 articles used abbreviations while 181 did not. Most utilized term was ASS; in 64.7% (n = 255), followed AS in 11.9% (n = 47), ASSD in 9.9% (n = 39) and ASyS in 7.6% (n = 30). A discordance in nomenclature is evident, with about half using antisynthetase syndrome and other half using anti-synthetase syndrome. Moreover, significant heterogeneity exists in abbreviation use aswell. There is a pressing need to bridge this disparity and establish a uniform identifier for the disease with an objective to develop greater coherence in future research, educational initiatives, and interdisciplinary collaboration.

Contrast of muscle magnetic resonance imaging and pathological findings of muscle tissue in patients with anti-aminoacyl transfer RNA synthetase antibodies.

Methods: Patients with idiopathic inflammatory myopathies (IIMs) diagnosed using the 2017 EULAR/ACR classification criteria in our university between 2005 and 2020 were retrospectively reviewed. IIMs were subclassified into the anti-ARS syndrome (ASSD), immune-mediated necrotizing myositis (IMNM), Dermatomyositis DM and others. Fat-suppressed T2-weighted MRI and muscle biopsy specimens were assessed in IIMs followed by the comparison among the four subgroups. MRI findings were available for 62 patients and histopathological findings were available for 27 patients. Perifascicular atrophy or necrosis in the muscle tissues from the patients with IIM was more frequently observed in patients with subcutaneous and fascial high signal intensity (HSI) on MRI than those without. Four-group comparison among ASSD, IMNM, DM and others revealed HSI in fasciae on MRI was more frequently observed in patients with ASSD and DM than others. Perifascicular atrophy or necrosis in muscle tissues was more frequently observed in patients with ASSD than in others. Patients with ASSD had distinct MRI features compared with anti-ARS negative patients. The fascial high signal intensity on MRI may reflect distinctive pathological features of muscles.

Disease characteristics and medications use in idiopathic inflammatory myopathy: a multi-center prospective observational study of decentralized remote vs. traditional clinic enrollment.

Idiopathic Inflammatory Myopathies (IIM) are rare and characterized by heterogeneous manifestations and clinical trajectories. Utilizing tele-research methods has the potential to improve participant recruitment and advance the understanding of the disease. We aimed to evaluate disease characteristics in IIM patients throughout the U.S. and compare these parameters between patients recruited remotely through mobile application or website vs those recruited locally in myositis clinics. "Myositis Patient Centered Tele-Research" (My PACER) is a multicentre prospective observational study of U.S. IIM subjects, competitively recruited through traditional in-person clinic visits (Center-Based Cohort [CBC]), and remotely using mobile application or website and social media (Tele-Research Cohort [TRC]). Data collection comprised baseline demographic and clinical variables, encompassing symptoms, organ involvement, diagnostic tests results and medication use. The study included 120 IIM patients, 82 in the TRC and 38 in the CBC. The average age was 55 ± 13.4, 75% females and 81% Caucasians. Both cohorts exhibited similar demographic characteristics. Overall, 41% dermatomyositis, 27% polymyositis, 23% anti-synthetase syndrome, and 9% necrotizing myositis patients were enrolled, with comparable subtypes prevalence among cohorts (p= 0.85). The groups demonstrated similarities in multiple clinical factors, including muscle enzymes, diagnostic delay, employment status, various patient and physician-reported outcomes, functional tests, and the frequency of abnormal findings in chest CT, pulmonary function tests, and electromyography. TRC patients received biologics and csDMARDs more frequently (p< 0.001 and p= 0.013, respectively). Tele-research recruitment yielded a patient cohort resembling traditionally recruited patients demographically and clinically, indicating its effectiveness for robust and diverse patient recruitment in clinical studies.

Role of Galectin-9, CXCL-10, APRIL, TNFRII and BAFF as Biomarkers in Idiopathic Inflammatory Myopathy: A Longitudinal Cohort Study

Objective: The study aimed to evaluate serum biomarkers (Galectin-9, TNFRII, APRIL, CXCL10, and BAFF) for their utility in identifying disease activity in idiopathic inflammatory myopathies (IIM) Methods: We enrolled adult patients who satisfied the 2017 EULAR/ACR criteria for IIM and categorised them into active (n = 16) and inactive (n = 24) subgroups. Inactive disease was defined as the absence of global and extramuscular activity, stable manual muscle testing 8 (MMT-8), and normal muscle enzymes over at least 6 months. We measured serum biomarkers by enzyme-linked immunosorbent assay (ELISA) at baseline, 3 and 6 months. We employed Spearman’s correlation, ROC curves, and multiple linear regression for evaluation. Results: We included 40 patients (mean age 38 ± 10 years; median disease duration 27.5 months). The majority had dermatomyositis (DM) (62.5%), followed by anti-synthetase syndrome (ASSD) (27.5%) and polymyositis (10%). Galectin-9, APRIL, and TNFRII levels were significantly higher in active disease ( P &lt; .05). Galectin-9 demonstrated a modest correlation with MMT-8 changes (r = 0.534). A combination of Galectin-9, TNFRII, APRIL and creatine kinase (CK) levels showed the highest ROC AUC (0.953) to detect active disease. During the study, four patients initially categorised as ‘inactive’ patients exhibited improvement of 10% in MMT-8 over 6 months. To enhance sensitivity for detecting these clinically active diseases, we assessed Galectin-9 at lower cut-offs. Levels of 1146 pg/mL and 1109 pg/mL improved sensitivity to identify active disease to 81% and 87%, respectively, without compromising specificity. Conclusion: Serum biomarkers, Galectin-9, TNFRII, and APRIL, may help in differentiating between active and inactive disease in adult IIM. Notably, persistently elevated Galectin-9 levels, even in clinically quiescent disease, may signify ongoing activity.

An update on myositis autoantibodies and insights into pathogenesis.

Myositis-specific autoantibodies (MSAs) are hallmarks of idiopathic inflammatory myopathies (IIMs) and have become increasing valuable in disease diagnosis, phenotyping, and classification. In addition to their clinical utility, emerging data, including findings from several animal studies, suggest that MSAs and autoreactive T cells substantially contribute to the etiopathogenesis of IIMs. This review aims to provide an updated perspective on myositis autoantibodies by focusing on relevant clinical and translational studies.

Effectiveness and safety of low dose Rituximab as remission-maintenance treatment for patients with refractory idiopathic inflammatory myopathies: results of a retrospective study from a monocentric cohort

ObjectiveOur aim was to assess efficacy and safety of Rituximab (RTX) in patients with refractory Idiopathic inflammatory myopathies (IIM) from a monocentric cohort. Thereafter, we evaluated the efficacy of a low-dose RTX regimen as a remission-maintenance therapy.MethodsWe retrospectively evaluated a cohort of patients affected with IIM treated with RTX. All patients were refractory to glucocorticoids (GC) and at least one immunosuppressant. Two infusions of 1 g two weeks apart were considered as standard cycle of RTX, a single dose of 1 g every six months was deemed as a low-dose RTX regimen. Complete and partial response were defined according to physician’s judgment, laboratory and radiological features.ResultsThirty-six patients affected with IIM were enrolled. Eighteen patients (50%) required the use of RTX for muscular involvement, 6 (16.7%) for interstitial lung disease (ILD), 12 (33.3%) for both myositis and ILD. We observed complete response to RTX in 25 patients (69.4%), partial response in 7 (19.4%) and no response in 4 (11.1%), with an overall response of 88.8% (partial and complete response). From the subgroup of twenty-five patients that achieved a complete response, six were treated with a low dose maintenance therapy maintaining a complete response to RTX. Twenty-six patients who achieved a complete or partial response were able to decrease the mean daily GC dose. Infections were the major adverse events detected in our study.ConclusionsRTX shows favorable outcomes in refractory patients with IIM. A low-dose regimen of RTX appears to be effective in maintaining remission after induction with standard dose.Key Points• The precise pathogenic mechanism of idiopathic inflammatory myopathies (IIM) remains elusive; however, a growing body of data support the autoimmune hypothesis. In this context, rituximab, a B cell-depleting agent, has emerged as a second-line therapeutic option in IIM.• Several studies have assessed It its effectiveness in refractory IIM patients.• Limited information exists on the use of Rituximab as maintenance therapy in patients who have achieved remission following induction therapy with Rituximab.

Diagnostic Value of Whole-Body MRI in Pediatric Patients with Suspected Rheumatic Diseases.

Background and Objectives: The diagnosis of rheumatic diseases in children is challenging and requires the use of advanced imaging examinations such as whole-body magnetic resonance imaging (MRI). Whole-body MRI allows visualization of bone marrow edema (BME), muscle edema, joint effusion and changes in the soft tissues surrounding the joints. The aim of this study was to collect and compare whole-body MRI findings, laboratory results and clinical manifestations of pediatric patients with suspected rheumatic disease. Materials and methods: In this retrospective single-center study, 33 patients who underwent whole-body MRI were included. Their age ranged from 9 to 17 years, and 24 (72.73%) of the patients were female. Patients were diagnosed as follows: juvenile idiopathic arthritis (27.27%), juvenile idiopathic inflammatory myopathies (21.21%), chronic nonbacterial osteomyelitis (21.21%) and other medical conditions (30.30%), such as arthritis associated with infection, scleroderma, Takayasu arteritis, polyarteritis nodosa and joint damage. Results: The most common symptom reported by 26 (79.79%) patients was pain. On physical examination, the limitation of joint mobility was examined in 17 (51.51%), swelling of the joints was observed in 12 (36.36%) patients and decreased muscle strength was noticed in 11 (33.33%) patients. An increase in the C-reactive protein (12%), erythrocyte sedimentation rate (9%), leukocyte count (9%) and creatine kinase (CK) (18%) was observed. Whole-body MRI revealed myositis (30%), joint effusion (27%) and BME (24%). The statistical analysis showed a significant relationship between myositis and the elevated CK level (p < 0.05). Conclusions: The most common symptom in the studied population was pain, while the limitation of joint mobility was found in more than half of patients. Myositis was the most commonly imaged lesion on the whole-body MRI and it was related to an increase in the CK level.

Advances in Juvenile Dermatomyositis: Pathophysiology, Diagnosis, Treatment and Interstitial Lung Diseases-A Narrative Review.

Juvenile idiopathic inflammatory myopathy (JIIM) is a rare systemic autoimmune disease characterized by skeletal muscle weakness with or without a skin rash. Juvenile dermatomyositis (JDM) is the most common subtype of JIIM, accounting for 80% of JIIM. Recent studies identified several myositis-specific autoantibodies (MSAs) and myositis-associated autoantibodies (MAAs). Each MSA or MAA is associated with distinct clinical features and outcomes, although there are several differences in the prevalence of MSA/MAA and autoantibody-phenotype relationships between age and ethnic groups. Histopathological studies have revealed critical roles of type I interferons and vasculopathy in the development of JDM. Serological classification mostly corresponds to clinicopathological classification. Novel therapeutic agents, such as biologics and Janus kinase inhibitors (JAKi), have been developed; however, to date, there is a lack of high-level evidence. As advances in treatment have reduced the mortality rate of JIIM, recent studies have focused on medium- and long-term outcomes. However, rapidly progressive interstitial lung disease (RP-ILD) remains a major cause of death in anti-melanoma differentiation gene 5 autoantibody-positive JDM. Early diagnosis and intervention using a multi-drug regimen is critical for the treatment of RP-ILD. Rituximab and JAKi may reduce mortality in patients with JDM-associated RP-ILD refractory to conventional therapy.

The association of cardiovascular disease risk with coronary artery calcification and thoracic aortic dilation: a study in idiopathic inflammatory myopathies and systemic lupus erythematosus.

We aim to explore the prevalence of coronary artery calcification (CAC) and ascending/descending thoracic aorta (AA/DA) dilation in idiopathic inflammatory myopathies (IIM) and systemic lupus erythematosus (SLE) patients, and to assess associations between cardiovascular disease (CVD) risk factors and these imaging signatures. This study recruited 151 IIM patients, 140 SLE patients, and 195 controls. The CAC and AA/DA diameters were quantified using non-gated chest CT images. The independent samples t-test or Mann-Whitney test was chosen for comparisons of continuous variables between patients and healthy controls. For categorical data, comparisons were made using the chi-square test or Fisher's exact test. Multivariate regression or Spearman's correlation analysis was employed to probe the associations between CVD risk factors and Framingham risk score (FRS) with imaging signatures. The IIM and SLE patients showed significantly higher prevalence of CAC and AA/DA dilatation (P < 0.01). Age was a risk factor for both CAC and AA/DA dilatation in all cohorts (P < 0.01). In IIM patients, the AA/DA dilatation was associated with BMI (P = 0.05). In SLE patients, CAC was associated with the elevated CRP level (P = 0.05). Without CAC, both IIM and SLE patients showed significant correlations between AA/DA diameters and FRS (P < 0.01, P < 0.01). Only in SLE patients, the interleukin-6 (IL-6) level correlated with AA/DA diameters. The IIM and SLE patients more commonly exhibit CAC and AA/DA dilation. These subclinical atherosclerosis signs are associated with traditional CVD risk factors. For AID patients without CAC, AA/DA diameters could serve as a potential biomarker for early CVD risk. Key Points • The study characterized the manifestation of subclinical atherosclerosis imaging biomarkers (CAC, AA/DA dilation) in IIM and SLE patients. • AA/DA diameters could serve as an early imaging biomarker in clinical management for IIM and SLE patients with early-onset and no CAC present.

Internet-based enrollment of a myositis patient cohort-a national experience.

Recruitment for idiopathic inflammatory myopathies (IIM) research is a challenge due to the rarity of the disease and the scarcity of specialized myositis centers. Online recruitment may be a feasible alternative to reach rare disease patients. We evaluated various online recruitment methods in a large longitudinal IIM cohort. The "Myositis Patient Centered Tele-Research" (My Pacer) is a prospective 6-month observational study of IIM, recruited online and through traditional clinic visits. We utilized diverse recruitment methods, such as physician referrals, social media, websites, direct emails, and partnerships with patient-support organizations. Participants self-enrolled and completed pre-screening, e-consenting, and release of medical information via the study-specific app or website. We compared the effectiveness of various recruitment and enrollment methods and the characteristics of the population recruited. A total of 841 participants completed the pre-screening; 408 completed e-consent and registration. From those, 353 (86.5%) were remotely recruited. Email (201; 49.26%) and social media (77; 18.87%) were important recruitment tools. Patient-support organizations were responsible for disseminating the study to 312 (75.46%) participants. The study app was used by 232 (65.72%) individuals for enrollment, with app users being slightly younger than website users (p = 0.001). Participants were mostly female 317 (77.76%), mean age of 54.84 years, White 328 (80.42%), Black 49 (12%), Asian 13 (3.26%), and non-Hispanic 378 (92.65%). Our study reached all U.S. regions and 45 (90%) U.S. states. Social media and partnerships with patient-support organizations lead to a high rate of recruitment, with a wide reach, and a reasonably diverse population.

Atherosclerotic cardiovascular disease following a diagnosis of idiopathic inflammatory myopathy: analysis from a retrospective cohort in the TriNetX registry.

Idiopathic inflammatory myopathies (IIM) confer an increased risk of morbidity from atherosclerotic cardiovascular disease (ASCVD). While ASCVD risk has been studied in other countries, these results may not be applicable to patients with dermatomyositis (DM) and polymyositis (PM) in the United States. This retrospective analysis of a cohort of patients identified by ICD code from TriNetX investigated the incidence of ASCVD after International Classification of Disease (ICD) codes of DM, PM, dermatopolymyositis (DPM) or juvenile dermatomyositis (JDM). Patients were identified by entry of two ICD codes separated by at least 6months, according to their first diagnosis code; ASCVD was defined as first ICD code for myocardial infarction, ischemic stroke, transient ischemic attack, or peripheral arterial disease. Cox proportional hazards regression modeled time from first IIM ICD code to ASCVD event. A total of 35,554 patients were identified with the mean age at first IIM code of 54 and 26.1% were male. The most common comorbidity for all groups except JDM was hyperlipidemia (39.9%) though 79.2% of patients were on no cholesterol lowering medication. ASCVD occurred in 30.4% of patients with PM, 24.3% of patients with DM and 0.9% of patients with JDM. Patients with PM had a median time to event of 9.7years (95% Confidence interval (CI) 9.1, 10.7) and 14.3years (95% CI 12.6, 14.8) for DM. This study demonstrates that ASCVD is a comorbidity occurring after a median of 12.5years (95% CI 11.9, 13.6) in patients with IIM. ASCVD appears to be a long-term complication for IIM patients occurring in nearly a quarter of US patients without prior ASCVD with at least two ICD codes for IIM, with a median time to event of 12.5years. There appears to be a practice gap in the recognition and treatment of hyperlipidemia in these patients. Key Points • Hyperlipidemia was a common comorbidity identified in patients with IIM though most patients were not on cholesterol lowering medication. • Development of ASCVD appears to be a long-term complication for patients with IIM in the United States.