Rheumatology International最新文献

Idiopathic inflammatory myopathies (IIM) are rare autoimmune disorders primarily affecting skeletal muscles, with occasional involvement of other organs and an increased risk of malignancy. Dermatomyositis (DM), a major IIM subtype, is characterized by proximal muscle weakness, distinctive skin manifestations, and characteristic biopsy findings. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV), including microscopic polyangiitis (MPA), involve small- to medium-sized vessels and can affect the kidneys and lungs. Although uncommon, overlap syndromes between IIM and AAV have been described. We report two cases of DM-MPA overlap. The first involved a 67-year-old male with interstitial lung disease (ILD), muscle weakness, and proteinuria. The second concerned a 53-year-old female presenting with characteristic skin rash, arthralgias, proteinuria, and mild pulmonary involvement. Both patients received high-dose corticosteroids and cyclophosphamide (CYC), resulting in clinical and laboratory improvement, including resolution of proteinuria and improved pulmonary function, maintained over a 6-month follow-up. The literature review identified five relevant case reports and one case series. Fifteen patients from these six studies were included, predominantly female (13/15), with ages ranging from 15 to 84 years. DM was the most common IIM subtype (7/15), followed by polymyositis (PM) (6/15), inclusion body myositis (IBM) (1/15), and clinically amyopathic dermatomyositis (CADM) (1/15). MPA accounted for 87% (13/15) of AAV cases, while GPA was reported in 2/15. Renal involvement was frequent, often presented as pauci-immune crescentic glomerulonephritis, whereas pulmonary involvement was less common. MPO-ANCA was positive in 12/15 patients. Initial therapy typically involved corticosteroids, with or without immunosuppressants, tailored according to the dominant organ involvement. Outcomes were variable; most patients achieved remission, although some experienced persistent organ dysfunction. IIM-AAV overlap is rare but potentially severe, frequently involving renal, pulmonary, muscular, and occasionally cardiac systems. Early recognition and individualized immunosuppressive therapy can yield favorable outcomes. Multicenter studies are required to clarify the epidemiology, clinical spectrum, and optimal management of this complex syndrome, and further research is needed to elucidate underlying pathogenic mechanisms.

Antineutrophil cytoplasmic autoantibody-associated vasculitis (AAV) is the most commonly encountered primary small-vessel vasculitis, with an annual incidence of 20 per million. The data on AAV from the Southeast Asian ethnicity is scarce. The present longitudinal observational study was undertaken to determine the clinical profile and outcomes in fifty-eight consecutive patients of AAV attending the Department of Rheumatology in a tertiary care centre in India. The majority (39, 67.2%) were females with a mean (± SD) age at baseline of 39.2 (± 15.2) years. Granulomatosis with polyangiitis (GPA) was the most common phenotype, accounting for 40 cases (69.0%). The patients were followed up for a mean (± SD) duration of 35.4 (± 31.4) months. The most commonly affected organ domains were the respiratory (46, 79.3%), musculoskeletal (41, 70.7%), and the renal domains (38, 65.5%). In our cohort, a significantly higher number of patients exhibited ophthalmological involvement (31, 53.4%). There were a total of 22 relapse events among 11 patients, representing a relapse rate of 19%. The case-fatality rate was 10.6%. The majority received treatment with intravenous methylprednisolone (46; 79.3%) and intravenous cyclophosphamide (42; 72.4%) during the induction phase, while rituximab (28; 48.3%) was the preferred first-line maintenance agent. BVAS of 22.5 was related to VDI ≥ 5 (p = 0.000). The mean (± SD) Vasculitis Damage Index (VDI) accrued was 2.41 (± 1.97). The most common treatment-related damage included osteoporosis (40%), diabetes (40%), and cataract (13%), whereas the common disease-related damage included diastolic hypertension (58%) and impaired lung function (27%). Higher Birmingham Vasculitis Activity Score (BVAS) at presentation (OR: 1.25, 95% CI 1.031-1.522) and relapse of scleritis (OR: 35.27, 95% CI 1.152 -1000.000) were found to be independent predictors of high VDI ≥ 5. This is the first study from Eastern India that has looked into the clinical profile of AAV and its damage index.

Management of ANCA-associated vasculitis (AAV) has significantly improved, yet up to 40% of patients experience relapses, leading to worse long-term outcomes and organ damage. This multicenter cohort study investigated the prognostic value of histopathological patterns in renal AAV for predicting relapse risk and treatment response. We retrospectively analyzed 264 patients with newly diagnosed granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA) with renal involvement recruited at four tertiary rheumatology and/or nephrology centers. Baseline clinical data, disease activity scores, and kidney biopsy findings were assessed. Patients were followed for at least twelve months. An overall relapse was defined as renewed disease activity requiring changes in maintenance therapy, initiation of a new induction regimen, or an increase in prednisone dosage > 10 mg/day. A severe relapse required new immunosuppressive induction therapy. After a median follow-up of twelve months the renal domain of the Birmingham Vasculitis Activity Score (BVAS) and its subcategories were evaluated. AAV patients with moderate-to-high (> 25%) interstitial fibrosis and tubular atrophy (IFTA) had a lower risk for both, overall and severe relapses. Severe relapses occurred more frequently in older and male patients. Furthermore, we identified glomerular sclerosis (≥ 50%) to be the strongest predictor for ongoing activity in the renal BVAS domain. Histopathological features do not only help to predict renal recovery and need for dialysis but also to forecast relapse risk and renal BVAS activity. Incorporating these patterns into clinical decision-making could enable more personalized therapy approaches, highlighting the need for prospective validation.

Growing evidence indicates that antiphospholipid antibodies (aPL) and antiphospholipid syndrome (APS) are not only associated with arterial thrombosis, but also enhanced premature atherosclerosis and stenotic lesions in various vascular beds. Atherosclerotic vascular disease involving coronary, carotid, and peripheral arteries is accelerated in APS to a larger extent when systemic lupus erythematosus (SLE) or other autoimmune disorders co-exist. However, the presence of aPL by itself may enhance atherosclerosis and increase the risk of arterial thromboembolic events also in older patients who did not meet the APS classification criteria. Traditional cardiovascular risk factors in particular hypertension and hypercholesterolemia largely contribute to the development and progression of cardiovascular disease and the occurrence of its thrombotic manifestations also in patients with aPL, therefore they should be vigorously treated like in patients free of autoimmune disorders. Nevertheless, antiplatelet agents alone and in combination with vitamin K antagonists (VKAs) remain a mainstay in prevention of arterial thrombosis in APS, despite controversy around the impact of typical atherosclerotic vascular disease and its risk factors on therapeutic strategies in the presence of IgG and/or IgM aPL at significant titers. The present overview summarizes clinical evidence for the role of aPL in subclinical and clinically overt atherosclerotic vascular disease and its management.

This study aimed to investigate the effects of neuropathic pain and fibromyalgia syndrome (FMS) on the quality of life of patients with multiple sclerosis (MS), as assessed by functional status, disability, pain intensity, mood, and sleep quality. A total of 190 MS patients (137 females, 53 males; mean age: 45.2 ± 11.5 years; range: 20-72 years) were included in this cross-sectional study. Pain, functional status and disability of the patients were evaluated using the following tools: visual analog scale (VAS), Fibromyalgia Impact Questionnaire (FIQ), Douleur Neuropathique 4 Questions (DN4), Kurtzke Expanded Disability Status Scale (EDSS), Beck Depression Inventory (BDI), Pittsburgh Sleep Quality Index (PSQI) and Health Assessment Quality (HAQ) questionnaires. Neuropathic pain and FMS were present in 34.7% and 32.6% of the patients, respectively. The presence of both conditions was strongly associated with significantly worse scores across all tested parameters (VAS, BDI, FIQ, PSQI, EDSS, and HAQ) (p < 0.05). On most of the tools tested, male patients scored better than female patients (p < 0.05). Neuropathic pain and FMS are very common conditions in MS patients, and they appear to be associated with impaired quality of life, impaired functional status, and disability.

Early diagnosis of Systemic Sclerosis (SSc) is challenging due to nonspecific symptoms and clinical overlap with other autoimmune diseases. To investigate factors associated with diagnostic delays in SSc, focusing on the number and specialties of physicians consulted before diagnosis. This cross-sectional study included SSc patients registered at a university rheumatology clinic. Demographics, clinical features, and physical examination findings were recorded. The number and specialties of physicians consulted before diagnosis were obtained through structured face-to-face interviews. Of 240 screened patients, 135 were included (120 female, 88.8%; 55 with diffuse SSc, 40.7%; mean age 52.1 ± 11.5 years). The median time to diagnosis was 36 months (IQR 12-96) from Raynaud's phenomenon (RP) onset and 11(IQR 0-35) months from the first non-RP symptom. Patients with limited SSc had a significantly longer RP-to-diagnosis interval than those with diffuse SSc (44 vs. 20 months, p = 0.024). The median number of physicians consulted before diagnosis was 3 (range 1-9). Higher educational level (IRR = 0.97, p = 0.036) and referral by a familiar healthcare professional (IRR = 0.78, p = 0.035) were independently associated with fewer pre-diagnostic consultations. Among 119 patients who recalled their first physician, 42 (35.3%) initially consulted an internist, 28 (23.5%) a family physician, 11 (9.2%) a dermatologist, and 10 (8.4%) a cardiovascular surgeon; the remainder visited other specialists. Only 8 patients (6.7%) received an SSc diagnosis at their first consultation. SSc diagnosis is often delayed, requiring multiple consultations. Greater physician awareness and timely rheumatology referrals are essential.

Inflammatory rheumatic diseases (IRDs) are chronic autoimmune conditions that affect a variety of organs and systems. These disorders have a major impact on hand function, restricting independence in daily activities and lowering quality of life. They are characterized by significant reductions in the hand's fine motor skills, grip strength, and coordination capacities. These impairments in hand function have a detrimental influence on physical capability, psychological adjustment, and occupational productivity. Since IRDs are chronic and progressive, early detection, continuous follow-up, and multifaceted rehabilitation strategies are essential. Self-report measures and performance-based assessments are utilized to evaluate hand function. Furthermore, imaging techniques, including ultrasonography, magnetic resonance imaging, and dual-energy computed tomography, provide an objective evaluation of subclinical inflammation and structural damage. Rehabilitation approaches, as a complement to medical care, play an important role in maintaining and enhancing hand function. Multicomponent therapies, including exercise, splinting, occupational therapy, manual therapy, massage, and patient education, are beneficial for preserving functional gains. Future research is anticipated to concentrate on discovering biomarkers for early diagnosis, creating sensor-based digital evaluation tools and telerehabilitation programs, and developing individualized, AI-powered rehabilitation procedures. These developments will make a substantial contribution to preserving hand function and enhancing the quality of life for IRD patients.

Early diagnosis and treatment of giant cell arteritis (GCA) can prevent complications like vision loss. Traditional inflammatory markers C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) lack specificity. Complete blood count (CBC) components (neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR)) are emerging biomarkers in autoimmune diseases, but their role in GCA remains unclear. To evaluate the clinical utility of CBC components in GCA diagnosis and prognosis. This retrospective study analyzed patients from the University of Washington's GCA fast-track clinic (2017-2024). Biomarkers were assessed using ROC curves, Kaplan-Meier survival analysis, and Cox proportional hazards models. Predictive models were developed using LASSO, stepwise, and Firth's penalized logistic regression, with data split into training and test sets. A total of 250 patients were included (119 GCA, 131 non-GCA). All CBC biomarkers were significantly associated with ESR and CRP, but correlation coefficients remained low, with the strongest correlation observed between monocytes and ESR (R = 0.55). CBC components showed moderate predictive ability for GCA diagnosis, vascular ultrasound (vUS) and temporal artery biopsy positivity, and mortality (area under the curve (AUC) range 0.5-0.694). Stepwise models integrating both CBC and inflammatory markers provided marginal improvements in predictive performance, with most models including one of each or, in some cases, NLR alone. A total of 23 patients died, with 13 deaths (10.9%) in the GCA group during a median follow-up of 2.45 years (1.17-42.25). In survival analyses, ESR and CRP lost significance after time-stratified adjustments, while PLR (hazard ratio (HR): 1.004, p = 0.018), NLR (HR: 1.082, p = 0.040), and MLR (HR: 3.655, p = 0.044) remained associated with mortality. The best mortality prediction model (AUC = 0.914) identified coronary artery disease, age at vUS, and time since first Rheumatology visit as key predictors. Diagnostic models reached an AUC of 0.920 based on vascular ultrasound, clinical suspicion, and American College of Rheumatology/European League Against Rheumatism classification, outperforming models based solely on inflammatory traditional inflammatory biomarkers or CBC parameters. Routine CBC-derived ratios showed independent associations with mortality and performed comparably to ESR and CRP for GCA diagnosis. Their integration into clinical models may offer a simple, low-cost strategy to support diagnostic and prognostic assessment, including in patients with normal inflammatory markers.

Filgrastim, a granulocyte colony-stimulating factor (G-CSF), is widely used for the mobilization of peripheral blood stem cells in donors and is generally considered safe. While transient side effects such as bone pain and arthralgia are well-documented, chronic musculoskeletal complications are rarely reported, particularly in otherwise healthy individuals. Herein, we describe the case of a 43-year-old physically active female who developed prolonged musculoskeletal symptoms following stem cell mobilization with filgrastim. The patient initially experienced severe flu-like symptoms and diffuse myalgia, which progressed post-collection and significantly impaired daily function. Despite partial spontaneous improvement, symptoms recurred after physiotherapy and persisted nine months later, prompting hospital admission. Clinical findings included joint pain, swelling, and restricted shoulder mobility. Laboratory tests showed elevated inflammatory markers and positive ANA, while creatine kinase levels remained normal. Imaging revealed Klippel-Feil syndrome and mild degenerative changes. A single dose of intramuscular betamethasone led to gradual recovery of muscular function. This case underscores the importance of recognizing potential long-term iatrogenic effects of G-CSF, even in healthy donors, and highlights the need for individualized follow-up and management.