Antiphospholipid syndrome (APS) is a complex disease that affects daily life. Previous studies have shown that poor information levels are correlated with lower health-related quality of life among individuals with APS. We conducted a scoping review on the available literature up to November 2025 to assess by what means health information-seeking behavior (HISB) among patients with APS has been evaluated. Furthermore, we conducted a cross-sectional survey in June 2021 to assess HISB among French-speaking patients with APS and to analyze HISB among internet posts related to APS between 2001 and 2021 using text analytics and cluster analysis. Five studies were retrieved and described according to the scoping review methodology. With respect to surveys among French patients with APS, the main source of information identified is rheumatologists/Lupus/APS specialists (more than 85
People with rheumatoid arthritis (RA) experience premature aging and RA is associated with poor health outcomes. Frailty tools offer a holistic view of an individual’s health status that may inform treatment strategies in RA. This review provides an overview of frailty in RA including methods of measurement, associations with clinical outcomes, and potential paths for frailty intervention. Frailty is common in RA, affecting approximately one-third of patients, with prevalence estimates varying according to the measurement instrument used. The causes of frailty are not well studied but likely include a combination of chronic systemic inflammation, immunosenescence, deconditioning and medication effects. Frailty is consistently associated with higher disease activity, poorer physical function, depression, pain, reduced quality of life, and greater comorbidity burden. Longitudinal studies show that frailty predicts hospitalization, serious infections, osteoporotic fractures, functional decline, readmission, and mortality, independent of traditional clinical risk factors and comorbidity indices. Emerging evidence also supports a bidirectional relationship between frailty and RA disease activity, suggesting that some aspects of frailty may be modifiable through improved disease control. Frailty-specific interventions have not yet been studied in RA, however, RA disease control, medication optimization and promotion of physical activity are likely to improve frailty in this high-risk population. Frailty is an important predictor of poor health outcomes in RA and may be amenable to interventions. Incorporation of frailty assessment into clinical care and clinical trials will be essential to move the field forward.
Chronic musculoskeletal pain (CMP), including osteoarthritis (OA), rheumatoid arthritis (RA), fibromyalgia, and chronic low back pain (cLBP), contributes substantially to disability and reduced quality of life. Contemporary pain science supports biopsychosocial, multimodal management addressing nociceptive, neuropathic, and nociplastic mechanisms. Tai Chi is a multicomponent mind–body exercise integrating gentle movement, breathing, relaxation, balance, and attentional focus. This narrative review summarizes approximately 20 years of research on Tai Chi for CMP and considers its evolving evidence in contemporary rheumatology and pain management. Findings are strongest for knee and hip OA, with randomized trials and systematic reviews demonstrating improvements in pain, mobility, physical function, and stiffness compared with non-exercise controls. For cLBP, studies suggest potential improvements in pain and physical function, although heterogeneity and limitations in the certainty of evidence warrant cautious interpretation. In fibromyalgia, Tai Chi may improve pain and selected symptoms, but findings remain variable and the certainty of evidence is limited. In RA, research is sparse and inconsistent, with insufficient data to establish clinically meaningful effects on disease activity, pain, or physical function. Across conditions, Tai Chi has a generally favorable safety profile, although variations in interventions and outcome measures limit direct comparisons. Over two decades, research on Tai Chi for chronic musculoskeletal pain has expanded from relatively small efficacy trials to larger randomized studies, as well as mechanistic and pragmatic investigations. Findings are most supportive for knee and hip OA, whereas evidence for cLBP and fibromyalgia remains promising but heterogeneous, with limitations in the certainty of evidence. Evidence for RA remains insufficient to draw firm conclusions. Overall, Tai Chi appears to be a feasible and generally safe nonpharmacological intervention that may complement multimodal management of musculoskeletal pain. Further high-quality studies are needed to establish the magnitude and clinical relevance of its benefits, determine comparative effectiveness and optimal dose and delivery, and evaluate longer-term outcomes.
DNASE1L3 deficiency is a rare monogenic cause of lupus and lupus-like autoimmunity resulting from impaired extracellular DNA clearance and sustained immune activation. Although most reported patients present with early-onset systemic lupus erythematosus (SLE), emerging evidence suggests broader phenotypic variability, including vasculitic and overlap manifestations. Whether these presentations represent distinct clinical entities or a continuum of DNASE1L3-associated immune dysregulation remains unclear. We aimed to define the clinical spectrum of DNASE1L3 deficiency and examine the relationship between recurrent pathogenic variants and disease severity. We conducted a combined pediatric case series and systematic literature review. Four children with genetically confirmed biallelic DNASE1L3 variants followed at a tertiary pediatric rheumatology centre were retrospectively analysed for clinical, immunological, genetic, treatment, and outcome data. In parallel, a systematic search of PubMed/MEDLINE, Scopus, and Web of Science identified previously reported patients with confirmed biallelic pathogenic or likely pathogenic DNASE1L3 variants and extractable patient-level clinical data. To facilitate cross-case comparison, we applied an exploratory three-tier descriptive framework reflecting increasing disease severity: vasculitic or organ-limited disease (G1), systemic lupus or overlap phenotypes without irreversible organ damage (G2), and severe systemic organ-damaging disease (G3). The assigned grades were descriptive rather than permanent categories, as some patients may meet the criteria for a higher grade if broader systemic manifestations or irreversible organ damage develop during follow-up. Fifteen reports provided extractable patient-level data, corresponding to 45 unique previously reported patients after accounting for known or probable overlapping reports. Combined with four patients from our centre, the analysis included 49 genetically confirmed individuals. SLE-dominant disease was the most frequent phenotype (27 [60
To summarize and critically evaluate recent literature on autoinflammatory syndromes of hidradenitis suppurativa (HS). HS-associated autoinflammatory syndromes traditionally encompass pyoderma gangrenosum (PG), acne, and HS (PASH); pyogenic arthritis, PG, acne, and HS (PAPASH); psoriatic arthritis, PG acne, and HS (PsAPASH); and PG, acne, HS and ankylosing spondylitis (PASS). However, this spectrum continues to expand, with recent literature considering the inclusion of additional autoinflammatory diseases such as HS associated with SAPHO, including synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO); and Hyperimmunoglobulin D Syndrome (HIDS). HS-associated autoinflammatory syndromes are thought to be driven by dysregulation of the innate immune system and the subsequent overexpression of key inflammatory cytokines such as IL-1, and targeted IL-1 therapies have demonstrated particularly brisk and efficacious response. Multiple genes related to follicular keratinization or inflammatory regulation have been implicated, and sequencing methods such as whole-exome sequencing and variant enrichment analysis continue to identify novel genetic variants and are being used to further elucidate genotype-phenotype correlations. HS-associated autoinflammatory syndromes are an evolving spectrum of rare, severe, diseases in which HS coexists with other autoinflammatory conditions, most commonly PASH and related syndromes. They are driven by innate immune dysregulation and pathogenic genetic variants, with whole-exome sequencing aiding diagnosis and genotype–phenotype correlation. Management is often challenging and highly individualized, with targeted biologic therapies such as IL-1 inhibitors showing the most consistent and rapid clinical benefit.
