Patients with anti-small ubiquitin-like modifier activating enzyme-positive dermatomyositis resembling antisynthetase syndrome with poor prognosis: a bicentric international retrospective study and literature review.

OBJECTIVE: This study aimed to describe adult Brazilian and Japanese patients with anti-small ubiquitin-like modifier activating enzyme (SEA)-positive dermatomyositis (DM), as there are few studies in the literature. A literature review was also conducted. METHODS: This bicentric international retrospective study, conducted between 2012 and 2023, included patients with anti-SAE-positive DM (2017 European League Against Rheumatism/American College of Rheumatology classification criteria). All demographic features and clinical, laboratory, therapeutic, and follow-up data were collected from Brazilian and Japanese centers using pre-standardized and parameterized information. RESULTS: We included 17 adult patients with a median age of 65 (56-76) and a predominance of females (82.4%). Constitutional symptoms at baseline were present in 58.8% of the patients. In addition to classical cutaneous DM lesions, one-third of the patients had myalgia and significant muscle weakness, whereas half presented with dysphagia, interstitial lung disease, and joint manifestations. The first-line treatment consisted of intravenous methylprednisolone and immunoglobulin pulse therapy in 41.2% and 28.6% of the patients, respectively. The median follow-up duration was 20 (13-74) months; at the last medical evaluation, half had active disease and were still using oral glucocorticoids (median dosage, 10.0 mg/day). Approximately one-fifth to one-third of the patients were diagnosed with different types of cancer, had severe infections, or died. CONCLUSIONS: Patients with anti-SAE-positive DM not only resemble the phenotype of antisynthetase syndrome but are also associated with a poor prognosis.

Diagnosis and treatment of interstitial lung disease related to systemic autoimmune myopathies: a narrative review.

Systemic autoimmune myopathies (SAMs) are rare diseases that lead to muscle inflammation and may be associated with a variety of systemic manifestations. Although there is great heterogeneity in the spectrum of extra-muscular involvement in SAMs, interstitial lung disease (ILD) is the most frequent lung manifestation. SAM-related ILD (SAM-ILD) presents significant variations according to geographic location and temporal trends and is associated with increased morbidity and mortality. Several myositis autoantibodies have been discovered over the last decades, including antibodies targeting aminoacyl-tRNA synthetase enzymes, which are associated with a variable risk of developing ILD and a myriad of other clinical features. In this review, the most relevant topics regarding clinical manifestations, risk factors, diagnostic tests, autoantibodies, treatment, and prognosis of SAM-ILD are highlighted. We searched PubMed for relevant articles published in English, Portuguese, or Spanish from January 2002 to September 2022. The most common SAM-ILD patterns are nonspecific interstitial pneumonia and organizing pneumonia. The combination of clinical, functional, laboratory, and tomographic features is usually sufficient for diagnostic confirmation, without the need for additional invasive methods. Glucocorticoids remain the first-line treatment for SAM-ILD, although other traditional immunosuppressants, such as azathioprine, mycophenolate, and cyclophosphamide have demonstrated some efficacy and, therefore, have an important role as steroid-sparing agents.

Brachio-cervical inflammatory myopathy associated with systemic sclerosis. Case series and review of literature.

This study was aimed at describing a case series of brachio-cervical inflammatory myopathy (BCIM) associated with systemic sclerosis (SSc), due to its rarity and limited coverage in published data. Another aim was to provide a literature review. We reported four cases of BCIM-SSc from our tertiary center. In addition, we researched the literature and found six articles featuring 17 patients who fit this phenotype. We pooled all cases and reported their features. Most patients were female and had limited SSc, and the median time of BCIM presentation was three years after SSc diagnosis. Asymmetric muscle involvement, scapular winging, dropped head, axial weakness, camptocormia, dysphagia, and dermatomyositis stigmas were common features. All patients had esophageal involvement. Most had positive antinuclear antibody results, a scleroderma pattern in their capillaroscopy images, elevated serum creatine phosphokinase, myopathic electrophysiology, and muscle involvement in magnetic resonance imaging. Muscle histopathological findings varied widely, but in general all showed the presence of lymphoid infiltrates, muscle atrophy, increased MHC-I expression, MAC deposits, vasculopathy, and muscle fiber necrosis. The response to immunosuppressive therapy was highly irregular. BCIM-SSc is a rare disorder that shares many similar phenotypes among the described cases, but has a highly heterogeneous response to treatment. At present, more data on the physiopathology, clinical features, and treatment is still needed.

Abnormal chronotropic reserve and heart rate recovery in patients with SLE: a case-control study.

Abnormal heart-rate (HR) response during or after a graded exercise test has been recognized as a strong and an independent predictor of all-cause mortality in healthy and diseased subjects. The purpose of the present study was to evaluate the HR response during exercise in women with systemic lupus erythematosus (SLE). In this case-control study, 22 women with SLE (age 29.5 ± 1.1 years) were compared with 20 gender-, BMI-, and age-matched healthy subjects (age 26.5 ± 1.4 years). A treadmill cardiorespiratory test was performed and HR response during exercise was evaluated by the chronotropic reserve (CR). HR recovery (ΔHRR) was defined as the difference between HR at peak exercise and at both first (ΔHRR1) and second (ΔHRR2) minutes after exercising. SLE patients presented lower peak VO(2) when compared with healthy subjects (27.6 ± 0.9 vs. 36.7 ± 1.1 ml/kg/min, p = 0.001, respectively). Additionally, SLE patients demonstrated lower CR (71.8 ± 2.4 vs. 98.2 ± 2.6%, p = 0.001), ΔHRR1 (22.1 ± 2.5 vs. 32.4 ± 2.2%, p = 0.004) and ΔHRR2 (39.1 ± 2.9 vs. 50.8 ± 2.5%, p = 0.001) than their healthy peers. In conclusion, SLE patients presented abnormal HR response to exercise, characterized by chronotropic incompetence and delayed ΔHRR.

Erratic control of breathing during exercise in patients with systemic lupus erythematosus: a pilot-study.

PURPOSE: The aim of this study was to provide a comprehensive evaluation of the pattern and timing of breathing during incremental exercise in a sample of women living with systemic lupus erythematosus (SLE). METHODS: In this cross-sectional study, 20 women with SLE without pulmonary involvement were compared with 20 gender-, body mass index- (BMI), and age-matched healthy individuals. By using a cardiopulmonary incremental exercise test, the following parameters were assessed: tidal volume (VT); breathing frequency (BF); total respiratory time (TOT); inspiratory time (TI); expiratory time (TE); inspiratory time to total time (TI/TOT); mean inspiratory flow (VT/TI); ventilatory equivalent for carbon dioxide (VE/VCO2) and end-tidal carbon dioxide pressure (PETCO2). RESULTS: BF and BF/VT were significantly higher in patients with SLE versus controls, whereas VT, TE, TI and TOT were significantly lower in the former group ( p<0.05). Additionally, patients with SLE presented higher VE/VCO2 and lower PETCO2 than controls ( p<0.05), suggesting a ventilatory inefficiency. CONCLUSION: We reported compelling evidence of abnormal pattern and timing of breathing during incremental exercise in SLE. Considering that an erratic control of breathing may play an important role in exercise intolerance and fatigue, respiratory exercises emerge as a potential treatment for these symptoms in patients with SLE.