Rheumatology Advances in Practice最新文献

{"title":"Hot, swollen or stiff joints in children and young people: British Society for Rheumatology guideline scope.","authors":"Lisa Bray, Alice Leahy, Alexander Aarvold, Hana Bailey, Jason Barling, Richard Beesley, Christine Chew, Coziana Ciurtin, Ellie Elliott, Kirsten Healy, Katie Hughes, Polly Livermore, Clare Matthews, Joanne May, Alasdair Munro, Lucy Paterson-Brown, Stéphane Paulus, Olivia Playfair, Amanda Rhodes, Binita Shah, Marcus Sim, Katy Walker, Eloise Whitaker, James Galloway","doi":"10.1093/rap/rkaf047","DOIUrl":"10.1093/rap/rkaf047","url":null,"abstract":"<p><p>The objective of this guideline is to provide up-to-date, evidence-based recommendations for the management of children and young people (CYP) who present with one or more hot, swollen or stiff joints. It will incorporate assessment, diagnosis, monitoring, non-pharmacological and initial pharmacological management preceding definitive diagnosis. This is the first British Society for Rheumatology guideline for hot, swollen or stiff joints in CYP <18 years of age and will complement the hot, swollen joint guideline created for adults ≥18 years of age. The guideline will be developed using the methods and rigorous processes outlined in Creating Clinical Guidelines: British Society for Rheumatology Protocol version 5.4.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf047"},"PeriodicalIF":2.1,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12129578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune checkpoint inhibitor-induced inflammatory arthritis with severe joint destruction requiring knee arthroplasty.","authors":"Hirokazu Taguchi, Yoshitaka Ueda, Yuichi Nagase, Naoto Yokogawa","doi":"10.1093/rap/rkaf067","DOIUrl":"10.1093/rap/rkaf067","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf067"},"PeriodicalIF":2.1,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C1q monogenic lupus: a case series and review.","authors":"Israrul Haque, Kaustav Mitra, Geetabali Sircar, Parasar Ghosh, Sumantro Mondol, Subhankar Haldar, DipendraNath Ghosh, Rashmi Roongta","doi":"10.1093/rap/rkaf064","DOIUrl":"10.1093/rap/rkaf064","url":null,"abstract":"<p><strong>Objectives: </strong>Monogenic systemic lupus erythematosus (SLE) is caused by a single gene mutation. C1q deficiency is a rare but well-documented form of monogenic SLE, characterized by unique clinical and laboratory indicators that guide diagnosis and treatment. We aimed to describe four cases of C1q monogenic lupus.</p><p><strong>Methods: </strong>This retrospective, single-centre observational study reviews the clinical and serological profiles and outcomes of four cases of C1q Monogenic Lupus diagnosed at our centre. The study was approved by the Institutional Ethics Committee at the Institute of Postgraduate Medical Education and Research (IPGMER), Kolkata-700020 (Memo No. IPGME&R/IEC/2025/0020).</p><p><strong>Results: </strong>We describe four cases of C1Q monogenic lupus identified by whole exome sequencing. All patients exhibited mucocutaneous involvement, discoid lupus erythematosus, inflammatory polyarthritis, normal serum complements C3 and C4, coarse-speckled Antinuclear antibody positivity and antibodies to ribonucleoprotein. Unique features identified include brain parenchymal calcification in one case, chronic subdural haemorrhage in two cases, infection complicated by macrophage activation syndrome in two cases and myositis in one case. Patients were treated with conventional immunosuppressive therapy (glucocorticoids, mycophenolate, cyclophosphamide) and Fresh Frozen Plasma. Our findings were compared with existing literature on C1q deficiency, noting frequent presentations with mucocutaneous and musculoskeletal manifestations, normal C3 and C4 levels and absence of anti-dsDNA antibodies.</p><p><strong>Conclusion: </strong>C1Q Monogenic SLE should be suspected in juvenile SLE patients presenting at under 10 years, with a family history of consanguinity, predominant mucocutaneous manifestations, a history of recurrent infection, normal serum complements and absence of C1q staining in direct immunofluorescence of renal biopsy. In our series, autoimmune manifestations responded well to immunosuppressive therapy.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf064"},"PeriodicalIF":2.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144485761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The risk of interstitial lung disease in psoriatic arthritis versus psoriasis: a retrospective nationwide database analysis (2014-24).","authors":"Andrew Engel, Christopher Xie, Ross Summer, Giorgos Loizidis","doi":"10.1093/rap/rkaf059","DOIUrl":"10.1093/rap/rkaf059","url":null,"abstract":"<p><strong>Objectives: </strong>Psoriasis (PsO) is a systemic autoimmune disease primarily characterized by erythematous plaques on the skin. While extra-dermal manifestations like psoriatic arthritis (PsA) are well recognized, data linking PsO to interstitial lung disease (ILD) remain limited. This study aimed to evaluate whether patients with PsA have a higher risk of developing ILD compared with patients with PsO.</p><p><strong>Methods: </strong>A retrospective analysis of the TriNetX US database (2014-24) was performed. Adult patients with PsO or PsA treated with systemic immunosuppressive medications were included, excluding those with other autoimmune diseases. ILD risk in PsO and PsA cohorts was compared with a reference population without autoimmune disease. Propensity score matching (PSM) adjusted for age, sex, race, BMI, smoking status and medications known to cause ILD was performed. Baseline immunosuppressive therapies were included in the PSM when comparing PsO and PsA. Statistical significance was determined using the χ² test of independence.</p><p><strong>Results: </strong>After PSM, PsA patients (<i>n</i> = 13 168) had a significantly higher ILD risk compared with the general population (<i>n</i> = 13 168) (risk ratio [RR] 1.94; 95% CI 1.29-2.92; <i>P</i> = 0.0011). PsO patients (<i>n</i> = 24 039) showed no significant difference in ILD risk compared with controls (<i>n</i> = 23 786) (RR 0.79; 95% CI 0.57-1.08; <i>P</i> = 0.14). PsA (<i>n</i> = 13 838) exhibited an over 1.5 times increase in ILD risk compared with PsO (<i>n</i> = 13 842) (RR 1.52; 95% CI 1.06-2.20; <i>P</i> = 0.0226).</p><p><strong>Conclusions: </strong>PsA was associated with a significantly higher likelihood of developing ILD compared with PsO without inflammatory arthritis. These findings underscore the importance of respiratory monitoring in PsA and highlight the need for further studies.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf059"},"PeriodicalIF":2.1,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What's new in the assessment of lupus activity?","authors":"Ana Isabel Ramos-Lisbona, Nur Azizah Allameen, David A Isenberg","doi":"10.1093/rap/rkaf062","DOIUrl":"10.1093/rap/rkaf062","url":null,"abstract":"<p><p>Capturing disease activity in SLE remains challenging. The binary nature of global score indices such as the SLEDAI 2000 (SLEDAI-2K) poses limitations, while the complexity of the BILAG-2004 index requires training and more time investment. Recent efforts to improve SLE activity indices include the SLE Disease Activity Score (SLE-DAS) and Easy-BILAG system. This review analyses the main indices used to assess SLE activity, examines their progressive refinements, evaluates their advantages and limitations and aims to identify the optimal index. The SLE-DAS offers greater sensitivity than the SLEDAI-2K and the Easy-BILAG simplifies scoring while maintaining the comprehensiveness of the BILAG-2004. Composite indices like the SLE Responder Index and BILAG-based Composite Lupus Assessment integrate the SLEDAI-2K and BILAG-2004 but are mainly used in clinical trials due to their complexity. This review emphasizes the importance of balancing sensitivity, specificity, simplicity and comprehensiveness in lupus activity measurement. The search for the optimal index remains ongoing.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf062"},"PeriodicalIF":2.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychosocial burden of axial spondyloarthritis and impact of different disease domains: a systematic literature review.","authors":"Denis Poddubnyy, Uta Kiltz, Abhijeet Danve, Grace Wright, Rebecca Haberman, Ana Biljan, Jerry Clewell, Jamie Urbanik, Heather Jones, Marina Magrey","doi":"10.1093/rap/rkaf063","DOIUrl":"10.1093/rap/rkaf063","url":null,"abstract":"<p><strong>Objective: </strong>To assess the psychosocial impact of axial spondyloarthritis (axSpA).</p><p><strong>Methods: </strong>A literature search was conducted in two stages: stage 1 included all patients with axSpA and stage 2 focused on patients with inadequate response to prior TNF inhibitor treatment. Selection criteria included population (adults with axSpA), outcomes of interest (psychosocial factors potentially impacted by axSpA, e.g. quality of life, mental health and work productivity) and context [disease-related (disease activity, pain) and -unrelated (gender, race, ethnicity, behaviour) factors potentially affecting psychosocial outcomes). Search results were categorized based on the core domains of disease activity, pain, morning stiffness, fatigue, physical function and overall functioning and health in patients with axSpA.</p><p><strong>Results: </strong>A total of 197 articles were included in this review, most of which were observational, with only one randomized controlled trial (RCT). The evidence suggests an association between greater disease burden and poorer psychosocial outcomes as well as a bidirectional relationship between disease components and psychosocial outcomes, both contributing to the overall disease burden. However, while many studies reported on psychosocial outcomes, potential relationships with disease domains or activity were not evaluated. Furthermore, there were inconsistencies across studies in how these outcomes were measured, such as the use of different tools and/or scales.</p><p><strong>Conclusion: </strong>Given the paucity of RCTs examining psychosocial outcomes in axSpA, future research should focus on standardizing assessment of psychosocial impairments experienced by patients and establishing appropriate interventions and management strategies to ensure the holistic treatment of patients with axSpA and to optimize treatment response and outcomes.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf063"},"PeriodicalIF":2.1,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lipid deposition myopathy due to compound heterozygous mutation in the <i>ETFDH</i> gene: a case report.","authors":"Yadan Li, Guangzhi Xiao, Xianghui Fu, Junfeng Jia, Zhaohui Zheng","doi":"10.1093/rap/rkaf056","DOIUrl":"10.1093/rap/rkaf056","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 3","pages":"rkaf056"},"PeriodicalIF":2.1,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Giant cell arteritis in Finland from 2010 to 2020: incidence, developing diagnostic methods and disease presentation.","authors":"Lauri Kivitalo, Kirsi Taimen, Tuulikki Sokka-Isler, Anne Kerola, Joonas Rautavaara, Laura Pirilä, Markku Kauppi, Joel Malila, Laura Haara, Laura Ryyppö, Taina Kotijärvi, Panu Saarenketo, Hannu Saarivaara, Juho Siltanen, Mika Helminen, Jarno Rutanen, Pia Isomäki","doi":"10.1093/rap/rkaf055","DOIUrl":"10.1093/rap/rkaf055","url":null,"abstract":"<p><strong>Objectives: </strong>To study the annual incidence, diagnostic methods used and clinical presentation of giant cell arteritis (GCA) over time in Finland.</p><p><strong>Methods: </strong>Newly diagnosed GCA patients from 2010 to 2020 were retrospectively identified from four healthcare districts in Finland. Medical records were reviewed and data on incidence, diagnostic methods, phenotype [cranial <i>vs</i> large vessel (LV)-GCA] and clinical presentation were analysed.</p><p><strong>Results: </strong>We identified 602 newly diagnosed GCA patients. The annual incidence was 9.0 cases/100 000 persons (95% CI 8.3, 9.7) ≥50 years of age and was significantly higher in the period 2016-2020 compared with the period 2010-2015 [11.3 (95% CI 10.1, 12.5) <i>vs</i> 7.0 (95% CI 6.2, 7.9), <i>P</i> < 0.001]. Imaging- or biopsy-confirmed diagnosis was recorded in 75% of GCA patients, while 25% had a clinical diagnosis. The proportion of imaging- or biopsy-confirmed diagnoses increased over time [64.7% (2010-2015) <i>vs</i> 82.2% (2016-2020)] while that of clinical diagnoses decreased. The use of imaging methods increased while the use of temporal artery biopsies decreased between the two time periods. LV-GCA was discovered more often in the period 2016-2020 when compared with 2010-2015 (34.0% <i>vs</i> 19.3% of patients).</p><p><strong>Conclusion: </strong>The incidence of GCA increased during the study period, as well as the proportion of imaging- or biopsy-confirmed diagnoses, probably due to more frequent use of advanced imaging methods. Additionally, patients with LV-GCA were more commonly identified.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf055"},"PeriodicalIF":2.1,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased risk of acute myocardial infarction in Swedish patients with systemic sclerosis: a population-based study.","authors":"Majd Bairkdar, Karina Patasova, Pontus Andell, Marie Holmqvist","doi":"10.1093/rap/rkaf054","DOIUrl":"10.1093/rap/rkaf054","url":null,"abstract":"<p><strong>Objectives: </strong>To study the risk of acute myocardial infarction (AMI) in patients with SSc in a population-based cohort.</p><p><strong>Methods: </strong>Using nationwide Swedish registers, we identified patients with incident SSc 2004-19 and age- and sex-matched comparators from the general population (1:10). Our primary outcome was incident AMI or death from incident AMI. We started follow-up from SSc diagnosis until the primary outcome, death from other cause than AMI, emigration or study end (31 December 2019). We estimated crude AMI incidence rate. We used flexible parametric models to explore the relative risk of AMI over time since diagnosis. We also used age as time scale to explore how AMI risk changes over increasing age. We also studied the outcomes of AMI in SSc compared with the matched comparators.</p><p><strong>Results: </strong>We identified 1579 patients and 16 064 comparators. The incidence rate of AMI was 75.2 (95% CI 58.8-94.6) per 10 000 person-years in patients with SSc and 37.5 (95% CI 34.0-41.3) in the comparators, median follow-up was 5.2 and 6.3 years, respectively. The adjusted hazard ratio (HR) was highest during the first year after SSc diagnosis (HR 3.1, 95% CI 2.0-4.6). In patients with SSc, the risk of AMI increased more rapidly with increasing age compared with the comparators. AMI in SSc was associated with higher risk of mortality (HR 2.7, 95% CI 1.6-4.4) but not 30-day readmission (HR 1.3, 95% CI 0.7-2.0) compared with the comparators.</p><p><strong>Conclusion: </strong>In line with previous studies, SSc is associated with a 2-fold increase in AMI incidence compared with the general population.</p>","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf054"},"PeriodicalIF":2.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Onco-rheumatology: from rags to riches, a transdisciplinary evolution.","authors":"Daniela Marotto, Canio Martinelli, Patrizia Maiorano, Antonella Fioravanti, Patrizia Amato, Giovanni Baglio, Graziella Calugi, Andrea Fiorillo, Tindara Franchina, Francesca Gimigliano, Giovanni Iolascon, Maria Cristina Maggio, Luciano Mutti, Luigi Pirtoli, Antonio Giordano","doi":"10.1093/rap/rkaf053","DOIUrl":"10.1093/rap/rkaf053","url":null,"abstract":"","PeriodicalId":21350,"journal":{"name":"Rheumatology Advances in Practice","volume":"9 2","pages":"rkaf053"},"PeriodicalIF":2.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}