Uribe-Ruíz NA, Murillo-Baquero N, Vargas-Camacho AF
… +5 more, Santiago-Pacheco V, Taborda-Murillo A, Muñoz-Vahos CH, González-Naranjo LA, Vanegas-García AL
TAFRO syndrome is a rare hyperinflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. Its coexistence with Sjögren's disease has only been report...TAFRO syndrome is a rare hyperinflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. Its coexistence with Sjögren's disease has only been reported in isolated cases, and both conditions are thought to share a pathogenic pathway mediated by the activation of the IL-6/VEGF axis and the presence of anti-SSA/Ro60 autoantibodies. We present a 33-year-old woman with primary Sjögren's disease who fulfilled the 2016 ACR/EULAR criteria and developed anasarca, persistent fever, severe thrombocytopenia, and acute kidney injury due to thrombotic microangiopathy and tubulointerstitial nephritis. Despite receiving pulse therapy and high-dose glucocorticoids, she experienced progressive deterioration that required renal replacement therapy. Given the suspicion of TAFRO syndrome associated with a systemic inflammatory response, weekly subcutaneous tocilizumab was initiated, resulting in rapid improvement in her overall condition, resolution of anasarca, and complete recovery of renal function. This case highlights the rare overlap between TAFRO syndrome and Sjögren's disease, in which IL-6 activation plays a central role. The favorable response to IL-6 blockade emphasizes the importance of early recognition of this association and consideration of targeted therapies for refractory hyperinflammation.
INTRODUCTION/OBJECTIVES: Vertebral fractures are common in rheumatoid arthritis (RA), but whether their risk factors differ by spinal region remains unclear. This study aimed to identify region-specific risk factors for...INTRODUCTION/OBJECTIVES: Vertebral fractures are common in rheumatoid arthritis (RA), but whether their risk factors differ by spinal region remains unclear. This study aimed to identify region-specific risk factors for vertebral fractures in RA, particularly in the mid-thoracic spine and thoracolumbar junction, and to describe fracture distribution. METHODS: We retrospectively evaluated 93 patients with RA and 108 knee osteoarthritis controls. Clinical, laboratory, and bone quality markers were collected. Vertebral fractures were identified on spinal radiographs using AI-assisted software with physician confirmation. Multivariable logistic regression was used to identify risk factors. RESULTS: Vertebral fractures were more common in RA than in controls (32.3% vs. 12.0%) and clustered in the mid-thoracic region (T4-T10). Overall vertebral fractures were associated with older age, higher cumulative glucocorticoid exposure, and absence of biologic or targeted synthetic disease-modifying antirheumatic drug (b/tsDMARD) therapy. In region-specific analyses, mid-thoracic fractures were independently associated with age (odds ratio (OR) 1.10, 95% confidence interval (CI) 1.03-1.19) and serum pentosidine levels (OR 17.32, 95% CI 1.49-273.04). Thoracolumbar junction fractures were associated with age (OR 1.12, 95% CI 1.03-1.25), b/tsDMARD use (OR 0.11, 95% CI 0.01-0.74), DAS28-CRP (OR 2.30, 95% CI 1.14-5.08), and cumulative glucocorticoid exposure (OR 1.09, 95% CI 1.02-1.18). CONCLUSIONS: Vertebral fractures in RA show distinct region-specific risk profiles. Mid-thoracic fractures were associated mainly with impaired bone quality, whereas thoracolumbar junction fractures were more strongly related to disease severity and glucocorticoid exposure. These findings support region-specific fracture assessment and prevention strategies in RA. Key Points • Vertebral fractures in rheumatoid arthritis (RA) showed a characteristic predominance in the mid-thoracic spine. • Distinct region-specific risk profiles were identified, with mid-thoracic fractures associated with older age and bone quality-related impairment reflected by higher serum pentosidine levels. • Thoracolumbar junction fractures were more strongly associated with RA disease activity and cumulative glucocorticoid exposure. • Region-specific assessment may help identify different mechanisms of vertebral fragility and guide targeted prevention strategies in rheumatoid arthritis.
Kemeness C, Garcia-Hernandez ML, Schandua H
… +4 more, Gupta R, Spangenberg A, Ritchlin C, Liao W
Best Pract Res Clin Rheumatol
· 2026 May · PMID 42173724
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Psoriasis (PsO) and psoriatic arthritis (PsA) are immune-mediated diseases characterized by chronic systemic inflammation, including inflammation of the skin and joints. Recent advances in animal models, single-cell tran...Psoriasis (PsO) and psoriatic arthritis (PsA) are immune-mediated diseases characterized by chronic systemic inflammation, including inflammation of the skin and joints. Recent advances in animal models, single-cell transcriptomics, spatial transcriptomics, and proteomics have greatly enhanced our understanding of disease pathogenesis. Mouse models exhibit key features of skin and joint inflammation, facilitating analysis of molecular pathways, and identification of therapeutic targets. Single-cell and spatial transcriptomic analyses have revealed cell-type-specific contributions to inflammation, highlighting interactions between keratinocytes, T cells, fibroblasts, and dendritic cells that drive psoriatic pathology. In psoriatic synovium, type 17 tissue-resident memory T cells, monocytes, and fibroblasts contribute to local inflammation and joint damage, whereas the roles of B cells and plasma cells are less clear. Proteomic and metabolomic profiling in patients with PsA has identified circulating protein signatures and metabolites associated with disease progression, sex-specific differences, and response to therapy. The integration of these multiomic approaches provides a detailed map of immune-stromal-epithelial crosstalk across skin, synovium, and entheses, uncovering mechanisms that were previously inaccessible. These insights have implications for predicting disease progression, identifying novel therapeutic targets, and optimizing treatment strategies. Collectively, advances in animal models and multiomic profiling are reshaping our understanding of PsO and PsA, providing a framework for future research, disease monitoring, and therapeutic development.
OBJECTIVES: Acute arthritis requires a precise and rapid diagnosis, particularly to rule out an infectious cause, which constitutes a rheumatologic emergency. Cytological, bacteriological, and microcrystal analyses do no...OBJECTIVES: Acute arthritis requires a precise and rapid diagnosis, particularly to rule out an infectious cause, which constitutes a rheumatologic emergency. Cytological, bacteriological, and microcrystal analyses do not always clearly differentiate causes. We hypothesized that variation in metal concentrations in synovial fluid could provide additional clues for etiological orientation. Our objective was to evaluate their diagnostic value in acute arthritis. METHODS: We conducted a retrospective, single-center study (Rennes University Hospital) using synovial fluids from the SYNOLACTATE-PLUS cohort, involving patients with acute arthritis (< 30 days). Metal quantification was performed by ICP-MS on frozen, centrifuged synovial samples. Diagnostic performance was assessed using univariate logistic regression and area under the curve (AUC). RESULTS: Between 2019 and 2020, 105 patients (63.8% male; mean age 62.1 ± 17.1 years) were included. Monoarthritis predominated (66.7%), especially in the knee (78%). Two diagnostic groups were analyzed: septic (n = 8) and non-septic (n = 97). Iron and zinc levels were significantly higher in septic arthritis (iron: 84.2 µg/dl vs 44.0; zinc: 20.4 µmol/l vs 10.6; both p < 0.005). Copper and manganese were also elevated (p < 0.05), while strontium was decreased (29.4 vs 51.2 µg/l; p < 0.05). AUCs were 0.835 for iron, 0.825 for zinc, and 0.769 for manganese (p < 0.001). Sensitivity analysis showed high odds ratios: 27.0 for zinc/strontium ratio, 16.4 for zinc, and 13.0 for copper and manganese. CONCLUSION: Our results suggest that synovial metallomic profiling, especially iron, zinc, copper, manganese, and strontium, could improve etiological diagnosis of acute arthritis. Prospective validation is required. Key Points • Synovial fluid metal profile varies with the etiology of acute arthritis • Fe, Cu, Zn, Mn, Mg, Se, and Rb increase, while Sr decreases in septic arthritis • A prospective study is needed to confirm these preliminary findings.
BACKGROUND: Rheumatoid arthritis (RA) is a chronic inflammatory disease marked by painful, progressive joint damage that leads to disability and a significant socioeconomic burden. Given the growing interest in data-driv...BACKGROUND: Rheumatoid arthritis (RA) is a chronic inflammatory disease marked by painful, progressive joint damage that leads to disability and a significant socioeconomic burden. Given the growing interest in data-driven healthcare, this study applied machine learning (ML) techniques to identify patterns of joint involvement associated with greater disease activity and functional impairment in patients with RA. METHOD: In this cross-sectional study, 936 individuals with RA were assessed using demographic and clinical data, along with detailed joint examinations, including tenderness, swelling, and limitation of motion. Multiple ML models, including random forest, extreme gradient boosting (XGB), k-nearest neighbors, CatBoost (CAT), and LightGBM, were evaluated to predict disease severity and disability. Disease activity and disability were measured using Disease Activity Score based on 28 joints (DAS28) and Health Assessment Questionnaire Disability Index (HAQ-DI) scores, respectively. RESULTS: For disability prediction, the XGB model performed best (F1 score, 0.60; AUC, 0.85), while the CAT model showed the highest performance for disease activity classification (F1 score, 0.63; AUC, 0.81). Key joint features associated with higher disability included the knee, wrist, acromioclavicular joint, and several hand joints. In contrast, high disease activity was primarily linked to tenderness and swelling in the knee and small hand joints. CONCLUSION: Overall, involvement of the knee, wrist, shoulder, and small hand joints was associated with functional disability, whereas disease activity was mainly reflected in the knee and hand joint involvement. These findings emphasize the importance of recognizing specific joint involvement patterns to improve clinical assessment and guide treatment strategies in RA. Key Points • This study is the first to apply machine learning to comprehensively evaluate joint-specific patterns of involvement and their association with both functional disability and disease activity in rheumatoid arthritis. • Large joints, particularly the knee, wrist, and shoulder, were identified as the strongest determinants of significant functional disability, alongside key small hand joints involved in grip and fine motor function. • High disease activity was primarily driven by small hand joints (especially MCP and PIP joints), with additional contributions from selected large joints such as the knee, wrist, and acromioclavicular joint. • These findings highlight the clinical value of detailed joint-level assessment beyond traditional composite scores, supporting more targeted and personalized management strategies in rheumatoid arthritis.
PURPOSE: The primary objectives of this study were: (1) to describe the clinical characteristics and disease burden in a cohort of patients with SAPHO syndrome; (2) to evaluate the impact of SAPHO syndrome on quality of...PURPOSE: The primary objectives of this study were: (1) to describe the clinical characteristics and disease burden in a cohort of patients with SAPHO syndrome; (2) to evaluate the impact of SAPHO syndrome on quality of life using DLQI and HAQ; and (3) to identify independent risk factors associated with impaired quality of life. METHODS: We retrospectively analyzed clinical data from 225 SAPHO patients at two tertiary hospitals using Dermatology Life Quality Index (DLQI) and Health Assessment Questionnaire (HAQ) scores. Correlation and regression analyses identified factors influencing QoL and physical function. RESULTS: There was no significant correlation between bone pain location and total HAQ scores (P = 0.264); skin lesion types showed a significant correlation with DLQI scores (P = 0.039), and PPP was the main factor leading to impaired skin-specific quality of life.Patients were predominantly female (65.3%; mean onset age 35 ± 13 years). Palmoplantar pustulosis (92.9%) and sternoclavicular joint involvement (59.6%) were predominant. There is a statistically significant association between treatment type and DLQI score (P = 0.028), with a significant correlation with HAQ score (P = 0.05).Median DLQI was 17 (78.5% moderate-severe) and HAQ 0.12. Alcohol and education correlated with DLQI (P < 0.05), with education as an independent factor (P = 0.002). Duration and alcohol correlated with HAQ (P < 0.05), with alcohol as an independent factor (P = 0.036). CONCLUSION: SAPHO significantly impacts patients' quality of life, worsened by modifiable factors like alcohol and education; targeted interventions may improve prognosis.
BACKGROUND: Systemic lupus erythematosus (SLE) patients face a 5-tenfold increased risk of atherosclerosis (AS), with subclinical lesions often progressing asymptomatically until life-threatening cardiovascular events oc...BACKGROUND: Systemic lupus erythematosus (SLE) patients face a 5-tenfold increased risk of atherosclerosis (AS), with subclinical lesions often progressing asymptomatically until life-threatening cardiovascular events occur. This study aimed to identify reliable molecular biomarkers for the early detection of SLE-associated AS. METHODS: Transcriptomic datasets (GSE154851 for SLE, GSE100927 for AS) were retrieved from the Gene Expression Omnibus (GEO) database. Weighted gene co-expression network analysis (WGCNA) and differential gene expression (DEG) analysis were performed to screen disease-related genes. Three machine learning algorithms (LASSO, SVM-RFE, Random Forest) were integrated to identify core diagnostic genes. The diagnostic efficacy was validated using external datasets (GSE37356, GSE43292) and clinical peripheral blood samples via quantitative real-time PCR (qPCR). Gene set enrichment analysis (GSEA) and CIBERSORT immune infiltration analysis were conducted to explore the underlying molecular mechanisms. RESULTS: A total of 47 shared pathogenic genes were identified between SLE and AS. Subsequent screening by machine learning algorithms pinpointed DDX60L and SLA as core diagnostic biomarkers. Both genes exhibited robust diagnostic performance in external datasets: DDX60L had an AUC of 0.761 (SLE) and 0.731 (AS), while SLA showed an AUC of 0.971 (SLE) and 0.748 (AS). qPCR validation confirmed a distinct expression gradient (healthy < SLE < AS < SLE + AS). GSEA revealed enrichment of the JAK-STAT signaling pathway, immune regulation, and metabolic pathways (folate biosynthesis, lysine degradation) associated with these two genes. Immune infiltration analysis indicated that DDX60L and SLA expression correlated with the abundance of pro-atherogenic immune cells (neutrophils, M0 macrophages). CONCLUSION: DDX60L and SLA serve as reliable diagnostic biomarkers for subclinical AS in SLE patients, potentially regulating disease progression via the JAK-STAT pathway and immune cell dysregulation. These findings provide a theoretical basis for early risk stratification and targeted intervention in high-risk SLE populations.. Key Points • DDX60L and SLA are identified as novel diagnostic biomarkers for subclinical atherosclerosis in SLE patients. • The two genes exhibit a distinct expression gradient correlating with disease severity (Healthy healthy< SLE < AS < SLE+AS) • DDX60L and SLA may regulate SLE-associated AS progression via the JAK-STAT signaling pathway and immune cell dysregulation. • The findings provide a theoretical basis for early screening and prevention of cardiovascular complications in SLE patients.
BACKGROUND AND AIMS: Leptin, an adipokine with immunomodulatory properties, has been implicated in rheumatoid arthritis (RA) pathogenesis. The aim of this study was to investigate the association of leptin (LEP) gene pol...BACKGROUND AND AIMS: Leptin, an adipokine with immunomodulatory properties, has been implicated in rheumatoid arthritis (RA) pathogenesis. The aim of this study was to investigate the association of leptin (LEP) gene polymorphisms (rs791620 and rs7799039) with RA susceptibility, clinical characteristics, laboratory data, and musculoskeletal ultrasound (MSUS) findings in Egyptian patients. METHODS: This case-control study included 101 RA patients and 101 age- and sex-matched healthy controls. Genotyping of LEP rs791620 and rs7799039 polymorphisms was performed using TaqMan SNP assays. All patients underwent clinical evaluation, laboratory testing (RF, anti-CCP, ESR, CRP), disease activity assessment (DAS28-ESR/CRP), and MSUS. RESULTS: Genotype and allele frequencies of rs791620 and rs7799039 did not differ significantly between RA patients and controls (all p > 0.05). However, within the RA cohort, the rs791620 CA genotype was associated with male sex (p ≤ 0.001) and subcutaneous nodules (p = 0.009). The rs7799039 AA genotype was associated with higher patient global assessment (p = 0.031), prolonged morning stiffness (p = 0.020), and increased frequency of joint erosions (p < 0.05). There were no significant associations with inflammatory markers or disease activity scores. Multivariable regression analysis identified CRP (p < 0.001) and RF positivity (p = 0.029) as independent predictors of higher DAS28-ESR, while LEP polymorphisms were not. CONCLUSIONS: In the current cohort, no significant association was detected between LEP rs791620 or rs7799039 polymorphisms and RA susceptibility. However, these variants may influence specific phenotypic characteristics, such as subcutaneous nodules and joint erosions. Consequently, additional investigations involving larger cohorts are recommended. Highlights What is known about this research topic? • Leptin is a pro-inflammatory adipokine that involved in the pathogenesis of rheumatoid arthritis (RA) through its immunomodulatory effects on both T-cells and macrophages. • Genetic polymorphisms in the leptin (LEP) gene have been linked to various autoimmune diseases, however, their role in RA susceptibility is still largely unexplored. What this study adds and its future implications: New findings: • LEP rs791620 and rs7799039 polymorphisms were not associated with RA susceptibility. • LEP rs791620 CA genotype was correlated with male sex and subcutaneous nodules, while rs7799039 AA genotype was linked to higher patient global assessment, prolonged morning stiffness, and increased joint erosions.
Best Pract Res Clin Rheumatol
· 2026 Mar · PMID 42150983
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Idiopathic inflammatory myopathies (IIM), including immune-mediated necrotizing myopathy (IMNM), dermatomyositis (DM), anti-synthetase syndrome (ASyS), overlap myositis and polymyositis, are heterogeneous autoimmune dise...Idiopathic inflammatory myopathies (IIM), including immune-mediated necrotizing myopathy (IMNM), dermatomyositis (DM), anti-synthetase syndrome (ASyS), overlap myositis and polymyositis, are heterogeneous autoimmune diseases characterized by immune-mediated skeletal muscle injury and frequent extra-muscular organ involvement. Despite recent therapeutic advances, many IIM patients have persistent disease activity, medication toxicity, or steroid dependence with current treatments. Increasing evidence implicates autoreactive B cells and autoantibody-producing plasma cells as central drivers of disease activity in several IIM subtypes, providing a strong rationale for B-cell- targeted therapies. While monoclonal antibody-based B-cell depletion strategies such as rituximab have demonstrated variable efficacy, their inability to effect persistent, intense depletion of tissue autoreactive B-cell populations often limit their success. Chimeric antigen receptor T-cell (CAR-T) and related cellular immunotherapies were originally developed against hematologic malignancies, but have recently emerged potentially transformative therapeutic options for autoimmune diseases. CAR-T cells targeting CD19 and other B-cell antigens have demonstrated the capacity to induce deep and durable B-cell depletion, and may even lead to "immune reset" with long-lived autoimmunity remission in diseases such as systemic lupus erythematosus and systemic sclerosis. Early clinical experiences now suggest that CAR-T therapy may offer similar promise in refractory IIM, particularly in phenotypes that include pathogenic autoantibodies, such as ASyS, DM, IMNM. This review provides a synopsis of current knowledge on the immunopathogenesis of IIM relevant to CAR-T and other cellular immunotherapy, outlines CAR-T technology and the mechanistic rationale for its use in IIM, and critically appraises emerging clinical CAR-T treatment data in IIM. We also discuss safety considerations, practical challenges, and future directions, with a focus on how CAR-based immunotherapies may reshape treatment paradigms for refractory inflammatory myopathies.
INTRODUCTION/OBJECTIVES: Despite treat-to-target strategies, clinically meaningful limitations in daily life often persist in rheumatoid arthritis (RA). As the Disease Activity Score in 28 joints (DAS28) excludes the foo...INTRODUCTION/OBJECTIVES: Despite treat-to-target strategies, clinically meaningful limitations in daily life often persist in rheumatoid arthritis (RA). As the Disease Activity Score in 28 joints (DAS28) excludes the foot and ankle, lower extremity symptoms may contribute to this residual burden. We aimed to determine whether foot and ankle pain was independently associated with daily activity limitation (DAL), beyond DAS28-CRP, and to explore the potential mediating role of foot-related quality of life. METHODS: In this single-centre longitudinal cohort study, adults fulfilling the 2010 ACR/EULAR classification criteria for RA were followed for up to four annual visits. DAL was assessed using a standardised single-item questionnaire. Foot and ankle pain was evaluated by interview and examination. Modified Poisson regression with generalised estimating equations estimated adjusted risk ratios controlling for age, sex, body mass index, visit number, and time-varying DAS28-CRP. Lagged and mediation analyses (SAFE-Q) were performed. RESULTS: Among 171 patients (489 observations), the median follow-up duration was 2 years (interquartile range [IQR], 1-3), with a median of 3 visits per patient (IQR, 2-4). Foot and/or ankle pain was independently associated with DAL (risk ratio [RR] 1.86, 95% confidence interval [CI] 1.48-2.35). This association persisted across the DAS28-CRP spectrum, including remission. In lagged analyses, foot and/or ankle pain was associated with DAL at the subsequent visit (RR 1.56, CI 1.20-2.04). Foot-related quality of life was partially mediated by this association (37.2%). CONCLUSIONS: Foot and ankle pain was independently associated with DAL in RA, even in low disease activity or remission. These findings highlight the importance of systematic foot and ankle assessment beyond conventional disease activity measures. Key Points • Foot and ankle pain is independently associated with participation-level daily activity limitation in rheumatoid arthritis, beyond DAS28-CRP-defined disease activity. • This association persists even in patients within the DAS28-CRP remission range. • Foot-related quality of life may partially account for the association between foot/ankle pain and daily activity limitation.
J Clin Rheumatol
· 2026 Jun · PMID 42141848
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OBJECTIVE: Pegloticase, an infused pegylated uricase enzyme, rapidly lowers serum urate (SU) in patients with uncontrolled gout. Preinfusion intravenous glucocorticoids (GCs) are typically administered before pegloticase...OBJECTIVE: Pegloticase, an infused pegylated uricase enzyme, rapidly lowers serum urate (SU) in patients with uncontrolled gout. Preinfusion intravenous glucocorticoids (GCs) are typically administered before pegloticase to reduce risks of infusion reactions (IRs); however, they may exacerbate comorbidities in this patient population, and thus minimizing GC exposure is desirable. This study examined preinfusion GC dose reduction and elimination in patients with uncontrolled gout receiving pegloticase and methotrexate (MTX) co-therapy. METHODS: This retrospective case series of medical data (January 1, 2020, to April 1, 2023) from 1 rheumatology practice included patients receiving pegloticase (8 mg every 2 wk) with MTX co-therapy and undergoing preinfusion methylprednisolone dose reduction and elimination. The percentage of patients with SU <6 mg/dL (pegloticase responders) was assessed at 6 months and study completion; safety was assessed by frequency and severity of adverse events. RESULTS: Twelve patients with multiple comorbidities were evaluated (male, 92%; White, 58%; mean [SD] age, 60.3 [11.0] years; mean [SD] baseline SU, 8.8 [1.9] mg/dL). Patients received a mean (SD) of 14.3 (4.2) pegloticase infusions and discontinued GCs after a mean (SD) of 7.6 (1.3) infusions. At 24 weeks, 10/12 (83%) patients were responders and 9/12 (75%) continued to respond following GC reduction and elimination; 3/12 (25%) had an SU rise and discontinued pegloticase. The most common adverse event was gout flare (10/12 [83%] patients); no patients experienced IRs. CONCLUSIONS: This study demonstrated that preinfusion GC reduction and elimination are possible in patients with uncontrolled gout receiving pegloticase and MTX co-therapy.
OBJECTIVE: Area-level factors such as neighborhood poverty affect the health of individuals with rheumatic conditions. The connection of area-level data with health data via electronic health records (EHR) often relies u...OBJECTIVE: Area-level factors such as neighborhood poverty affect the health of individuals with rheumatic conditions. The connection of area-level data with health data via electronic health records (EHR) often relies upon the most recent patient address. We investigated longitudinal address history to understand mobility to areas with differing degrees of social vulnerability. METHODS: We identified individuals with rheumatic or musculoskeletal conditions receiving rheumatology care in a multihospital health care organization (2019-2024) in this cohort study. We geocoded available addresses for everyone over 5 years and merged them with the census tract-level Social Vulnerability Index. We used multinomial regression to investigate associations with patient characteristics and movement to areas with different SVIs. RESULTS: Among 10,376 individuals, 2563 (25%) moved ≥1 time. 504 (20%) moved to a census tract with higher vulnerability, and 420 (16%) moved to a lower one. Increased likelihood of moving to an area with higher vulnerability was associated with being Black (OR 3.43, 95% CI: 2.13-5.54) or a Medicaid beneficiary (OR 1.87, 95% CI: 1.34-2.61). Decreased likelihood of moving to a lower vulnerability area was associated with being Black (OR: 0.51, 95% CI: 0.31-0.83) or a Medicaid beneficiary (0.66, 95% CI: 0.45-0.98). CONCLUSIONS: Address histories from the EHR can provide a more nuanced understanding of area-level factors, especially for Black and lower-income individuals with rheumatic conditions. This information may help inform hospital-wide initiatives to identify patients who may be at higher risk for negative health outcomes based on their residential mobility.
Özçelik E, Uğur Es Y, Erdem Torun Ş
… +9 more, Öztürk D, Yoğun SN, Polat MC, Işiklar Ekici M, Çelikel E, Ekici Tekin Z, Ertem Ş, Karagöl C, Çelikel Acar B
OBJECTIVE: The objective of this study was to investigate differences between familial Mediterranean fever (FMF) patients with symptom onset at aged 2 years or younger and those with later onset, with a focus on clinical...OBJECTIVE: The objective of this study was to investigate differences between familial Mediterranean fever (FMF) patients with symptom onset at aged 2 years or younger and those with later onset, with a focus on clinical presentation, disease course, and treatment outcomes. MATERIALS AND METHODS: The medical records of FMF patients aged 0 to 18 years who were followed in the Pediatric Rheumatology Department between 2013 and 2024 were reviewed. Patients with symptom onset at aged 2 years or younger were classified as having early-onset, and patients with missing data or <6 months of follow-up were excluded. RESULTS: A total of 1255 patients with FMF were divided into 2 groups according to the age at symptom onset: ≤2 years (early-onset FMF, n = 346) and >2 years (later-onset FMF, n = 909). Early-onset FMF patients exhibited longer diagnostic delays, higher attack frequency, and more frequent fever attacks compared with later-onset patients (P < 0.05). Disease severity and the prevalence of colchicine-resistant FMF were higher in the early-onset group (P = 0.021 and P = 0.002). M694V homozygosity was more common among early-onset FMF patients (29.9% vs. 22.1%, P = 0.005). In multivariate analysis, a family history of colchicine-resistant FMF (OR = 2.64, 95% CI: 1.48-4.71) and fever (OR = 3.05, 95% CI: 2.12-4.40) were identified as independent predictors of early disease onset FMF. CONCLUSION: Early-onset FMF is associated with a more severe clinical presentation, including higher disease severity, increased colchicine resistance, and a greater frequency of M694V homozygosity. A family history of colchicine-resistant FMF is an independent predictor of early onset, highlighting the importance of detailed family history assessment in clinical practice.