Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501972
Danton Magri , Clisten Fátima Staffen , Ticiana Della Justina Farias , Ilíada Rainha de Souza , Yara Costa Netto Muniz , Ivânio Alves Pereira , Lia Kubelka de Carlos Back , Luciano Santos Pinto Guimarães , Juliana Dal-Ri Lindenau
Introduction and objectives
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, inflammation processes, and tissue damage. There are several genetic factors associated with the disease, many of them single nucleotide polymorphisms (SNPs). Interleukin-18 is a pro-inflammatory cytokine encoded by the IL18 gene, and the SNP −137 G/C (rs187238) has been studied in several populations. This case control study analyzed whether rs187238 is associated with SLE susceptibility and its clinical manifestations in a Brazilian population.
Materials and methods
153 patients fulfilling the American College of Rheumatology classification criteria for SLE were recruited, as well as 147 controls. Genotyping was performed by sequence-specific polymerase chain reaction (SSP-PCR). To assess SLE susceptibility a logistic regression test was conducted. Clinical aspects were tested through Poisson regression and clustered by Principal Component Analysis.
Results
An association between the rs187238*C_ carriers genotypes and SLE was found, these genotypes were associated with a 127% increased chance of developing the disease (OR = 2.27, 95% CI = 1.32–3.98, p = 0.003). The *C_ genotypes were also associated with photosensitivity (PR = 1.39, 95% CI = 1.1–1.8, p = 0.017), malar rash (PR = 1.37, 95% CI = 1.1–1.8, p = 0.014) and Raynaud phenomenon (PR = 1.37, 95% IC = 1.1–1.8, p = 0.015).
Discussion and conclusions
These findings suggest the potential of rs187238 as a genetic marker for SLE risk and clinical stratification in admixed Latin American populations.
系统性红斑狼疮（SLE）是一种以自身抗体产生、炎症过程和组织损伤为特征的慢性自身免疫性疾病。有几个遗传因素与该病有关，其中许多是单核苷酸多态性（snp）。白细胞介素-18是一种由il -18基因编码的促炎细胞因子，SNP - 137 G/C （rs187238）已在多个人群中进行了研究。本病例对照研究分析了rs187238是否与巴西人群SLE易感性及其临床表现相关。材料和方法：153例符合美国风湿病学会SLE分类标准的患者和147例对照。采用序列特异性聚合酶链反应（SSP-PCR）进行基因分型。为了评估SLE易感性，进行了逻辑回归检验。临床方面通过泊松回归和主成分分析聚类进行检验。结果rs187238*C_携带者基因型与SLE存在相关性，其发病几率增加127% （OR = 2.27, 95% CI = 1.32 ~ 3.98, p = 0.003）。*C_基因型还与光敏（PR = 1.39, 95% CI = 1.1 ~ 1.8, p = 0.017）、颧部皮疹（PR = 1.37, 95% CI = 1.1 ~ 1.8, p = 0.014）、雷诺现象（PR = 1.37, 95% IC = 1.1 ~ 1.8, p = 0.015）相关。讨论和结论这些发现提示rs187238可能作为拉丁美洲混合人群SLE风险和临床分层的遗传标记。
{"title":"Impact of the IL18 −137 G/C (rs187238) polymorphism on susceptibility and clinical manifestations in women systemic lupus erythematosus","authors":"Danton Magri , Clisten Fátima Staffen , Ticiana Della Justina Farias , Ilíada Rainha de Souza , Yara Costa Netto Muniz , Ivânio Alves Pereira , Lia Kubelka de Carlos Back , Luciano Santos Pinto Guimarães , Juliana Dal-Ri Lindenau","doi":"10.1016/j.reumae.2025.501972","DOIUrl":"10.1016/j.reumae.2025.501972","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, inflammation processes, and tissue damage. There are several genetic factors associated with the disease, many of them single nucleotide polymorphisms (SNPs). Interleukin-18 is a pro-inflammatory cytokine encoded by the <em>IL18</em> gene, and the SNP <em>−137 G/C (rs187238)</em> has been studied in several populations. This case control study analyzed whether <em>rs187238</em> is associated with SLE susceptibility and its clinical manifestations in a Brazilian population.</div></div><div><h3>Materials and methods</h3><div>153 patients fulfilling the American College of Rheumatology classification criteria for SLE were recruited, as well as 147 controls. Genotyping was performed by sequence-specific polymerase chain reaction (SSP-PCR). To assess SLE susceptibility a logistic regression test was conducted. Clinical aspects were tested through Poisson regression and clustered by Principal Component Analysis.</div></div><div><h3>Results</h3><div>An association between the <em>rs187238*C_</em> carriers genotypes and SLE was found, these genotypes were associated with a 127% increased chance of developing the disease (OR<!--> <!-->=<!--> <!-->2.27, 95% CI<!--> <!-->=<!--> <!-->1.32–3.98, <em>p</em> <!-->=<!--> <!-->0.003). The <em>*C_</em> genotypes were also associated with photosensitivity (PR<!--> <!-->=<!--> <!-->1.39, 95% CI<!--> <!-->=<!--> <!-->1.1–1.8, <em>p</em> <!-->=<!--> <!-->0.017), malar rash (PR<!--> <!-->=<!--> <!-->1.37, 95% CI<!--> <!-->=<!--> <!-->1.1–1.8, <em>p</em> <!-->=<!--> <!-->0.014) and Raynaud phenomenon (PR<!--> <!-->=<!--> <!-->1.37, 95% IC<!--> <!-->=<!--> <!-->1.1–1.8, <em>p</em> <!-->=<!--> <!-->0.015).</div></div><div><h3>Discussion and conclusions</h3><div>These findings suggest the potential of rs187238 as a genetic marker for SLE risk and clinical stratification in admixed Latin American populations.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501972"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145492944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501967
Ana Urruticoechea-Arana , Miguel Angel Abad-Hernandez , Raquel Almodóvar , Joan Miquel Nolla-Solé , Juan Carlos Hermosa Hernán , María Medina Abellán , Concepción Fito Manteca , José María Pego-Reinosa , José Javier Pérez Venegas , Paloma Vela , Marcos Paulino , Fernando León-Vazquez
Objectives
To design referral criteria from primary care to rheumatology for patients with rheumatic and musculoskeletal diseases (RMDs).
Methods
Qualitative study. A panel of 13 expert rheumatologists and primary care physicians was convened. They defined the inclusion and exclusion criteria for a systematic review to analyse the efficacy and safety of primary care referral protocols/systems/criteria for patients with suspected or diagnosed RMDs. A survey was also launched in primary care setting to assess the level of knowledge of RMDs, available referral systems/criteria and the use of digital health tools for patient referral. The experts discussed the systematic review and survey results and defined and agreed on several referral criteria and other helpful educational materials to be included in a digital application (DerivaREUMA app).
Results
The systematic review identified 32 articles of moderate quality. The survey revealed that more than 60% of primary care physicians lacked standard referral protocols/systems/criteria to rheumatology. A consensus was reached on seven referral criteria, starting with one of the following that have more questions and sub-criteria afterwards: (1) arthritis >3–4 weeks; (2) low-back pain >3 months in patients aged <45 years; (3) systemic autoimmune disease; (4) soft tissue rheumatism; (5) knee and hand osteoarthritis; (6) osteoporosis; (7) complications of rheumatological treatment. The app also contains informative and explanatory material.
Discussion
We have proposed referral criteria and other helpful materials aimed at promoting and improving efficiency in early referral of patients with RMDs from primary care to rheumatology.
{"title":"Referral criteria from primary care to rheumatology: A qualitative study","authors":"Ana Urruticoechea-Arana , Miguel Angel Abad-Hernandez , Raquel Almodóvar , Joan Miquel Nolla-Solé , Juan Carlos Hermosa Hernán , María Medina Abellán , Concepción Fito Manteca , José María Pego-Reinosa , José Javier Pérez Venegas , Paloma Vela , Marcos Paulino , Fernando León-Vazquez","doi":"10.1016/j.reumae.2025.501967","DOIUrl":"10.1016/j.reumae.2025.501967","url":null,"abstract":"<div><h3>Objectives</h3><div>To design referral criteria from primary care to rheumatology for patients with rheumatic and musculoskeletal diseases (RMDs).</div></div><div><h3>Methods</h3><div>Qualitative study. A panel of 13 expert rheumatologists and primary care physicians was convened. They defined the inclusion and exclusion criteria for a systematic review to analyse the efficacy and safety of primary care referral protocols/systems/criteria for patients with suspected or diagnosed RMDs. A survey was also launched in primary care setting to assess the level of knowledge of RMDs, available referral systems/criteria and the use of digital health tools for patient referral. The experts discussed the systematic review and survey results and defined and agreed on several referral criteria and other helpful educational materials to be included in a digital application (DerivaREUMA app).</div></div><div><h3>Results</h3><div>The systematic review identified 32 articles of moderate quality. The survey revealed that more than 60% of primary care physicians lacked standard referral protocols/systems/criteria to rheumatology. A consensus was reached on seven referral criteria, starting with one of the following that have more questions and sub-criteria afterwards: (1) arthritis >3–4 weeks; (2) low-back pain >3 months in patients aged <45 years; (3) systemic autoimmune disease; (4) soft tissue rheumatism; (5) knee and hand osteoarthritis; (6) osteoporosis; (7) complications of rheumatological treatment. The app also contains informative and explanatory material.</div></div><div><h3>Discussion</h3><div>We have proposed referral criteria and other helpful materials aimed at promoting and improving efficiency in early referral of patients with RMDs from primary care to rheumatology.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501967"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145493233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rheumatoid arthritis (RA) is a chronic inflammatory disease that requires continuous monitoring to optimize treatment outcomes and prevent long-term disability. Telemedicine has emerged as a promising strategy to improve access and continuity of care. This study aimed to evaluate the use of telemedicine as a follow-up tool in patients with newly diagnosed RA.
Material and methods
We conducted a prospective, observational study in patients with recent-onset RA recruited from an early arthritis detection program between May and November 2023. Following baseline in-person evaluation, patients were enrolled in a telemonitoring protocol consisting of two scheduled video consultations at 6 and 12 months. Clinical outcomes were assessed at each visit using the Health Assessment Questionnaire (HAQ), the Clinical Disease Activity Index (CDAI), and patient-reported joint counts.
Results
A total of 34 patients were included (94.1% female, mean age 48.2 ± 8.9 years). At 6 and 12 months, 88.2% and 73.5% of patients completed their respective teleconsultations. Statistically significant improvements were observed in all clinical parameters: HAQ scores decreased from 0.87 to 0.50, CDAI from 23.5 to 12.0, TJC decreased from 10.5 to 3.4, SJC from 1.48 to 1.15, and EVA from 5.7 to 3.69.
Discussion and conclusion
Telemedicine proved to be an effective follow-up strategy for patients with newly diagnosed RA, showing significant improvements in functional status, pain, and disease activity over time. This approach may represent a valuable complement to in-person care in early RA management.
{"title":"Telemedicine on the follow-up management of early referral patients with inflammatory arthritis in a limited-resource clinical setting","authors":"David Vega-Morales , Valeria Alexsandra Fernández-Garza , Lourdes Gil-Flores , Delia Raquel López-Castillo , Alondra Elizabeth Montoya-Montes , Alain Nigel Michele Granados-Silva","doi":"10.1016/j.reumae.2025.501968","DOIUrl":"10.1016/j.reumae.2025.501968","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Rheumatoid arthritis (RA) is a chronic inflammatory disease that requires continuous monitoring to optimize treatment outcomes and prevent long-term disability. Telemedicine has emerged as a promising strategy to improve access and continuity of care. This study aimed to evaluate the use of telemedicine as a follow-up tool in patients with newly diagnosed RA.</div></div><div><h3>Material and methods</h3><div>We conducted a prospective, observational study in patients with recent-onset RA recruited from an early arthritis detection program between May and November 2023. Following baseline in-person evaluation, patients were enrolled in a telemonitoring protocol consisting of two scheduled video consultations at 6 and 12 months. Clinical outcomes were assessed at each visit using the Health Assessment Questionnaire (HAQ), the Clinical Disease Activity Index (CDAI), and patient-reported joint counts.</div></div><div><h3>Results</h3><div>A total of 34 patients were included (94.1% female, mean age 48.2<!--> <!-->±<!--> <!-->8.9 years). At 6 and 12 months, 88.2% and 73.5% of patients completed their respective teleconsultations. Statistically significant improvements were observed in all clinical parameters: HAQ scores decreased from 0.87 to 0.50, CDAI from 23.5 to 12.0, TJC decreased from 10.5 to 3.4, SJC from 1.48 to 1.15, and EVA from 5.7 to 3.69.</div></div><div><h3>Discussion and conclusion</h3><div>Telemedicine proved to be an effective follow-up strategy for patients with newly diagnosed RA, showing significant improvements in functional status, pain, and disease activity over time. This approach may represent a valuable complement to in-person care in early RA management.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501968"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145493234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501969
Beatriz Tejera Segura, Adrián Quevedo Rodriguez, María García González, Judith Hernández Sánchez, Marta Hernández Díaz, Íñigo Rua-Figueroa de Larrinoa
Introduction
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a variable course. There is a need for simple and accessible biomarkers to assess disease activity and prognosis.
Objectives
To analyze the relationship between hematological indices NLR (neutrophil-to-lymphocyte ratio) and PLR (platelet-to-lymphocyte ratio) with disease activity and organ damage in patients with SLE.
Materials and methods
A multicenter retrospective study including 319 patients with SLE. Associations between NLR and PLR with disease activity (SLEDAI-2K), organ damage (SLICC/SDI), hypocomplementemia, mortality, and clinical manifestations were evaluated.
Results
Both indices showed a significant association with disease activity, even after adjusting for confounding factors. No associations were found with organ damage or specific clinical manifestations. NLR was associated with hypocomplementemia, and both indices were linked to mortality.
Conclusions
NLR and PLR may serve as useful, low-cost, and complementary tools for monitoring disease activity in SLE. Prospective studies are needed to confirm their value as independent biomarkers.
{"title":"Association of hematological indices, disease activity, and organ damage in systemic lupus erythematosus: A multicenter analysis of 319 cases","authors":"Beatriz Tejera Segura, Adrián Quevedo Rodriguez, María García González, Judith Hernández Sánchez, Marta Hernández Díaz, Íñigo Rua-Figueroa de Larrinoa","doi":"10.1016/j.reumae.2025.501969","DOIUrl":"10.1016/j.reumae.2025.501969","url":null,"abstract":"<div><h3>Introduction</h3><div>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a variable course. There is a need for simple and accessible biomarkers to assess disease activity and prognosis.</div></div><div><h3>Objectives</h3><div>To analyze the relationship between hematological indices NLR (neutrophil-to-lymphocyte ratio) and PLR (platelet-to-lymphocyte ratio) with disease activity and organ damage in patients with SLE.</div></div><div><h3>Materials and methods</h3><div>A multicenter retrospective study including 319 patients with SLE. Associations between NLR and PLR with disease activity (SLEDAI-2K), organ damage (SLICC/SDI), hypocomplementemia, mortality, and clinical manifestations were evaluated.</div></div><div><h3>Results</h3><div>Both indices showed a significant association with disease activity, even after adjusting for confounding factors. No associations were found with organ damage or specific clinical manifestations. NLR was associated with hypocomplementemia, and both indices were linked to mortality.</div></div><div><h3>Conclusions</h3><div>NLR and PLR may serve as useful, low-cost, and complementary tools for monitoring disease activity in SLE. Prospective studies are needed to confirm their value as independent biomarkers.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501969"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145433681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501971
Pedro Santos-Moreno , Rosmery V. Barroso-Parra , María Carrasquilla-Sotomayor , Nelson Rafael Alvis-Zakzuk , Lina Moyano-Tamara , Nelson J. Alvis-Zakzuk , Josefina Zakzuk
Background and objective
Methotrexate has been used as the gold-standard therapy in patients with rheumatoid arthritis (RA) for more than 30 years. However, there is limited information on long-term effectiveness. The aim of this study was to describe the effectiveness of subcutaneous methotrexate (MTX SC) and its long-term persistence in real life in patients diagnosed with RA.
Patients and methods
We conducted an analytical retrospective cohort study of patients with RA treated at a reference center in Colombia. We included participants older than 18 years-old with a minimum of one year of follow-up using MTX SC. The main endpoint was to evaluate the changes in the level of disease activity through the DAS28 index from 6 to 48 months of follow-up. Survival curves were estimated using the Kaplan–Meier method to compare different therapies with MTX SC. A p-value < 0.05 was considered statistically significant.
Results
877 patients with RA were included, with a median age of 65 [RIQ: 57–73] years, 84% of whom were women. Therapeutic success was achieved in 83% of the population considering those who were maintained in low activity or remission during the follow-up period.
Discussion and conclusions
This study shows the proportion of those who started with active disease, meanwhile those in remission and low activity increased from 6 months to the end of follow-up when MTX SC is used appropriately. Effectiveness and persistence of MTX SC over time can be extended up to 48 months during follow-up.
{"title":"Effectiveness of subcutaneous methotrexate in patients with rheumatoid arthritis and its long-term persistence","authors":"Pedro Santos-Moreno , Rosmery V. Barroso-Parra , María Carrasquilla-Sotomayor , Nelson Rafael Alvis-Zakzuk , Lina Moyano-Tamara , Nelson J. Alvis-Zakzuk , Josefina Zakzuk","doi":"10.1016/j.reumae.2025.501971","DOIUrl":"10.1016/j.reumae.2025.501971","url":null,"abstract":"<div><h3>Background and objective</h3><div>Methotrexate has been used as the gold-standard therapy in patients with rheumatoid arthritis (RA) for more than 30 years. However, there is limited information on long-term effectiveness. The aim of this study was to describe the effectiveness of subcutaneous methotrexate (MTX SC) and its long-term persistence in real life in patients diagnosed with RA.</div></div><div><h3>Patients and methods</h3><div>We conducted an analytical retrospective cohort study of patients with RA treated at a reference center in Colombia. We included participants older than 18 years-old with a minimum of one year of follow-up using MTX SC. The main endpoint was to evaluate the changes in the level of disease activity through the DAS28 index from 6 to 48 months of follow-up. Survival curves were estimated using the Kaplan–Meier method to compare different therapies with MTX SC. A <em>p</em>-value<!--> <!--><<!--> <!-->0.05 was considered statistically significant.</div></div><div><h3>Results</h3><div>877 patients with RA were included, with a median age of 65 [RIQ: 57–73] years, 84% of whom were women. Therapeutic success was achieved in 83% of the population considering those who were maintained in low activity or remission during the follow-up period.</div></div><div><h3>Discussion and conclusions</h3><div>This study shows the proportion of those who started with active disease, meanwhile those in remission and low activity increased from 6 months to the end of follow-up when MTX SC is used appropriately. Effectiveness and persistence of MTX SC over time can be extended up to 48 months during follow-up.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501971"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145493236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501973
Ana Victoria Villarreal-Treviño , Claudia Saad-Magalhãnes , Marcela Álvarez , Nadina Rubio-Pérez , Fernando García Rodríguez
Juvenile-onset systemic lupus erythematosus (jSLE) is an autoimmune disease that presents with greater severity and higher mobility than adult-onset SLE. In Latin America, data on its incidence, prevalence and clinical phenotypes are limited. Specialized care is available only in a few centers with trained pediatric rheumatologists leading to substantial diagnostic delays and barriers to timely treatment. This review highlights the urgent need for region-specific strategies to improve early diagnosis, expand access to specialized care and reduce disparities in outcomes for children and adolescents with jSLE in Latin America.
{"title":"Juvenile systemic lupus erythematosus: Challenge for equity in Latin America","authors":"Ana Victoria Villarreal-Treviño , Claudia Saad-Magalhãnes , Marcela Álvarez , Nadina Rubio-Pérez , Fernando García Rodríguez","doi":"10.1016/j.reumae.2025.501973","DOIUrl":"10.1016/j.reumae.2025.501973","url":null,"abstract":"<div><div>Juvenile-onset systemic lupus erythematosus (jSLE) is an autoimmune disease that presents with greater severity and higher mobility than adult-onset SLE. In Latin America, data on its incidence, prevalence and clinical phenotypes are limited. Specialized care is available only in a few centers with trained pediatric rheumatologists leading to substantial diagnostic delays and barriers to timely treatment. This review highlights the urgent need for region-specific strategies to improve early diagnosis, expand access to specialized care and reduce disparities in outcomes for children and adolescents with jSLE in Latin America.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501973"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145492947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501975
Ayodele Faleye , Kamran Mahmood , Eslam Al-Abadi , Kate Armon , Kathryn Bailey , Mary Brennan , Coziana Ciurtin , Janet Gardner-Medwin , Kirsty Haslam , Daniel Hawley , Alice Leahy , Heather Rostron , Gulshan Malik , Zoe McLaren , Elena Moraitis , Athimalaipet Ramanan , Rangaraj Satyapal , Philip Riley , Ethan Sen , Alison Kinder , Eve Smith
Background
Juvenile-onset systemic lupus erythematosus (JSLE) is a rare autoimmune disease with significant morbidity and mortality. Pulmonary manifestations in JSLE have not been comprehensively described in the literature to date.
Objectives
To report the frequency, clinical, and demographic characteristics of JSLE patients with pulmonary manifestations compared to those without.
Methods
United Kingdom (UK) JSLE Cohort Study participants aged < 18 years at diagnosis, with ≥4 American College of Rheumatology (ACR-1997) criteria for systemic lupus erythematosus (SLE), were eligible. Patients were grouped according to the presence or absence of pulmonary involvement. Pulmonary manifestations were described at diagnosis, 1-year, 2-year, and 5-year follow-up. Demographics and clinical characteristics of patients with/without pulmonary manifestations were compared.
Results
480 JSLE patients were included. Overall, 24.8% had pulmonary manifestations; 22.7% at diagnosis, 19.1% at 1 year, 17.2% at 2 years, and 22.4% patients at 5 years after diagnosis. Overall, the commonest manifestation was pulmonary serositis. Pulmonary involvement was associated with higher American College of Rheumatology (ACR)-1997 scores (p < 0.002) and higher pediatric version of British Isles Lupus Assessment Group (pBILAG) scores (p < 0.001) at diagnosis but there were no differences in Systemic Lupus International Collaborating Clinic Damage Index (SLICC-SDI) scores (p > 0.05). pBILAG defined pulmonary involvement was associated with increased frequency of constitutional (48.3 vs 26.1%), musculoskeletal (49.1 vs 26.1%), gastrointestinal (10.3 vs 3.8%), and hematological (37.9 vs 20.6%) involvement (all p < 0.05).
Conclusion
Pulmonary disease is common in JSLE. It is associated with wider organ involvement, suggesting a need for close monitoring and prompt treatment.
背景：青少年发病的系统性红斑狼疮（JSLE）是一种罕见的自身免疫性疾病，发病率和死亡率都很高。迄今为止，JSLE的肺部表现尚未在文献中得到全面描述。目的对比无肺表现的JSLE患者，报告有肺表现的JSLE患者的发病频率、临床和人口学特征。方法：英国（UK） JSLE队列研究的参与者在诊断时年龄为18岁，具有≥4个美国风湿病学会（ACR-1997）系统性红斑狼疮（SLE）标准。患者根据有无肺部受累进行分组。在诊断时描述肺部表现，随访1年、2年和5年。比较有/无肺部症状患者的人口学特征和临床特征。结果纳入JSLE患者480例。总体而言，24.8%有肺部表现；诊断时22.7%，1年19.1%，2年17.2%，5年22.4%。总的来说，最常见的表现是肺浆液炎。肺部受损伤与诊断时较高的美国风湿病学会(ACR)-1997评分（p < 0.002）和较高的儿童版不列颠群岛狼疮评估组（pBILAG）评分（p < 0.001）相关，但系统性狼疮国际合作临床损害指数（SLICC-SDI）评分无差异（p > 0.05）。pBILAG定义的肺部受累与体格（48.3% vs 26.1%）、肌肉骨骼（49.1% vs 26.1%）、胃肠道（10.3 vs 3.8%）和血液学（37.9% vs 20.6%）受累的频率增加相关（均p <； 0.05）。结论JSLE多见于肺部疾病。它与更广泛的器官受累有关，提示需要密切监测和及时治疗。
{"title":"Exploring the prevalence of pulmonary involvement in juvenile-onset systemic lupus erythematosus: Data from the UK JSLE Cohort Study","authors":"Ayodele Faleye , Kamran Mahmood , Eslam Al-Abadi , Kate Armon , Kathryn Bailey , Mary Brennan , Coziana Ciurtin , Janet Gardner-Medwin , Kirsty Haslam , Daniel Hawley , Alice Leahy , Heather Rostron , Gulshan Malik , Zoe McLaren , Elena Moraitis , Athimalaipet Ramanan , Rangaraj Satyapal , Philip Riley , Ethan Sen , Alison Kinder , Eve Smith","doi":"10.1016/j.reumae.2025.501975","DOIUrl":"10.1016/j.reumae.2025.501975","url":null,"abstract":"<div><h3>Background</h3><div>Juvenile-onset systemic lupus erythematosus (JSLE) is a rare autoimmune disease with significant morbidity and mortality. Pulmonary manifestations in JSLE have not been comprehensively described in the literature to date.</div></div><div><h3>Objectives</h3><div>To report the frequency, clinical, and demographic characteristics of JSLE patients with pulmonary manifestations compared to those without.</div></div><div><h3>Methods</h3><div>United Kingdom (UK) JSLE Cohort Study participants aged<!--> <!--><<!--> <!-->18 years at diagnosis, with ≥4 American College of Rheumatology (ACR-1997) criteria for systemic lupus erythematosus (SLE), were eligible. Patients were grouped according to the presence or absence of pulmonary involvement. Pulmonary manifestations were described at diagnosis, 1-year, 2-year, and 5-year follow-up. Demographics and clinical characteristics of patients with/without pulmonary manifestations were compared.</div></div><div><h3>Results</h3><div>480 JSLE patients were included. Overall, 24.8% had pulmonary manifestations; 22.7% at diagnosis, 19.1% at 1 year, 17.2% at 2 years, and 22.4% patients at 5 years after diagnosis. Overall, the commonest manifestation was pulmonary serositis. Pulmonary involvement was associated with higher American College of Rheumatology (ACR)-1997 scores (<em>p</em> <!--><<!--> <!-->0.002) and higher pediatric version of British Isles Lupus Assessment Group (pBILAG) scores (<em>p</em> <!--><<!--> <!-->0.001) at diagnosis but there were no differences in Systemic Lupus International Collaborating Clinic Damage Index (SLICC-SDI) scores (<em>p</em> <!-->><!--> <!-->0.05). pBILAG defined pulmonary involvement was associated with increased frequency of constitutional (48.3 vs 26.1%), musculoskeletal (49.1 vs 26.1%), gastrointestinal (10.3 vs 3.8%), and hematological (37.9 vs 20.6%) involvement (all <em>p</em> <!--><<!--> <!-->0.05).</div></div><div><h3>Conclusion</h3><div>Pulmonary disease is common in JSLE. It is associated with wider organ involvement, suggesting a need for close monitoring and prompt treatment.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501975"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145492946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501970
Guillermo González-Arribas , Mercedes Freire-González , Lucía Silva-Fernández , Javier de Toro Santos
Background
Pulmonary hypertension (PH) is a severe complication of systemic sclerosis (SSc), with significant prognostic implications. The DETECT algorithm, is a two-step tool developed to facilitate early PH identification in high-risk SSc patients, although its performance in routine clinical practice, especially among patients with relatively preserved diffusing capacity for carbon monoxide (DLCO) remains underexplored.
Objective
To evaluate the clinical performance of the DETECT algorithm in a real-world cohort of SSc patients without a prior diagnosis of PH, and to identify variables associated with PH in this population.
Methods
We conducted a cross-sectional study including SSc patients meeting ACR/EULAR 2013 criteria. Patients with known PH, advanced chronic kidney disease, or severe heart failure were excluded. The DETECT algorithm was applied prospectively. Right heart catheterization (RHC) was performed in patients who met Step 2 criteria. Clinical, laboratory, functional and echocardiographic variables were collected. Logistic regression analyses were conducted to identify factors independently associated with PH.
Results
85 patients with SSc were included (90.58% women; mean age 67.36 ± 11.75 years; mean disease duration 15.69 ± 9.17 years). 31 patients (36.47%) met criteria for transthoracic echocardiography (TTE), and 21 (24.70%) underwent RHC. PH was confirmed in 11 patients (12.94%). Higher tricuspid regurgitation velocity (TRV) (OR = 11.57; 95% CI: 1.29–103.98; p = 0.029) was independently associated with PH. Conversely, higher DLCO was inversely associated with PH (OR = 0.887; 95% CI: 0.797–0.987; p = 0.028). PH was detected even in patients with DLCO > 60%.
Conclusion
The DETECT algorithm is a valuable tool for PH screening in SSc patients, with good correlation between its components and confirmed PH. Its applicability may be relevant even in patients with DLCO > 60%, broadening its clinical utility. Further research is warranted to validate its performance across diverse populations and to evaluate its long-term prognostic impact.
{"title":"Application of the DETECT algorithm in a cohort of patients with systemic sclerosis","authors":"Guillermo González-Arribas , Mercedes Freire-González , Lucía Silva-Fernández , Javier de Toro Santos","doi":"10.1016/j.reumae.2025.501970","DOIUrl":"10.1016/j.reumae.2025.501970","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary hypertension (PH) is a severe complication of systemic sclerosis (SSc), with significant prognostic implications. The DETECT algorithm, is a two-step tool developed to facilitate early PH identification in high-risk SSc patients, although its performance in routine clinical practice, especially among patients with relatively preserved diffusing capacity for carbon monoxide (DLCO) remains underexplored.</div></div><div><h3>Objective</h3><div>To evaluate the clinical performance of the DETECT algorithm in a real-world cohort of SSc patients without a prior diagnosis of PH, and to identify variables associated with PH in this population.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study including SSc patients meeting ACR/EULAR 2013 criteria. Patients with known PH, advanced chronic kidney disease, or severe heart failure were excluded. The DETECT algorithm was applied prospectively. Right heart catheterization (RHC) was performed in patients who met Step 2 criteria. Clinical, laboratory, functional and echocardiographic variables were collected. Logistic regression analyses were conducted to identify factors independently associated with PH.</div></div><div><h3>Results</h3><div>85 patients with SSc were included (90.58% women; mean age 67.36<!--> <!-->±<!--> <!-->11.75 years; mean disease duration 15.69<!--> <!-->±<!--> <!-->9.17 years). 31 patients (36.47%) met criteria for transthoracic echocardiography (TTE), and 21 (24.70%) underwent RHC. PH was confirmed in 11 patients (12.94%). Higher tricuspid regurgitation velocity (TRV) (OR<!--> <!-->=<!--> <!-->11.57; 95% CI: 1.29–103.98; <em>p</em> <!-->=<!--> <!-->0.029) was independently associated with PH. Conversely, higher DLCO was inversely associated with PH (OR<!--> <!-->=<!--> <!-->0.887; 95% CI: 0.797–0.987; <em>p</em> <!-->=<!--> <!-->0.028). PH was detected even in patients with DLCO<!--> <!-->><!--> <!-->60%.</div></div><div><h3>Conclusion</h3><div>The DETECT algorithm is a valuable tool for PH screening in SSc patients, with good correlation between its components and confirmed PH. Its applicability may be relevant even in patients with DLCO<!--> <!-->><!--> <!-->60%, broadening its clinical utility. Further research is warranted to validate its performance across diverse populations and to evaluate its long-term prognostic impact.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501970"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145493235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.reumae.2025.501996
Zeineb Meddeb , Nour Ben Younes , Houssem Abida , Hela Boudabous , Mouna Zribi , Cherifa AbdelKefi , Amira El Ouni , Sana Toujani , Safa Khatrouch , Amel Ben Chehida , Kamel Bouslama , Abdelmoula Mohamed Slim , Saloua B’Chir Hamzaoui , Thara Larbi
Introduction and objectives
Gaucher disease (GD) is characterized by an abnormal accumulation of glucocerebroside in the phagocytic cells due to an enzymatic deficiency in glucocerebrosidase. It is a systemic condition frequently associated with skeletal involvement. Our aim was to evaluate bone involvement (BI) in GD and to assess the impact of specific therapies for GD including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
Patients and methods
Data at diagnosis and at the final post-treatment follow-up was extracted from the Tunisian GD registry.
Results
Among the 74 included patients 48 had BI (65%), being the third most frequent disease feature. Seventeen patients reported experiencing bone pain crises (23%). Twenty-two patients had elevated alkaline phosphatases (30%), among which, 14 had BI (19%). Standard skeletal X-rays revealed femur deformity in Erlenmeyer flask shape in 4 patients and lytic bone lesions in 2 other patients for whom screening for malignancies was negative. Magnetic resonance imaging of the spine and lower limbs revealed bone marrow infiltration in 19 patients. Aseptic osteonecrosis was identified in 6 patients on MRI (22%). Bone mineral density demonstrated osteoporosis in 7 cases (14%) and osteopenia in 17 others (35%). Specific therapies for GD showed a trend towards improvement of bone pain (velaglucerase alfa) and bone densitometry parameters (velaglucerase alfa and eliglustat) at the final post-treatment follow-up, although formal statistical testing was not feasible due to small and heterogeneous subgroups.
Discussion and conclusions
We presented descriptive data on BI derived from the Tunisian national Gaucher disease registry. This manifestation was common in our cohort. The limited size and heterogeneity of the treated subgroups precluded robust statistical comparisons. A major challenge in our setting is the delayed initiation of specific therapies, primarily due to late diagnosis and limited access to treatment.
{"title":"Bone involvement in Gaucher disease: Data from a North African registry","authors":"Zeineb Meddeb , Nour Ben Younes , Houssem Abida , Hela Boudabous , Mouna Zribi , Cherifa AbdelKefi , Amira El Ouni , Sana Toujani , Safa Khatrouch , Amel Ben Chehida , Kamel Bouslama , Abdelmoula Mohamed Slim , Saloua B’Chir Hamzaoui , Thara Larbi","doi":"10.1016/j.reumae.2025.501996","DOIUrl":"10.1016/j.reumae.2025.501996","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Gaucher disease (GD) is characterized by an abnormal accumulation of glucocerebroside in the phagocytic cells due to an enzymatic deficiency in glucocerebrosidase. It is a systemic condition frequently associated with skeletal involvement. Our aim was to evaluate bone involvement (BI) in GD and to assess the impact of specific therapies for GD including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).</div></div><div><h3>Patients and methods</h3><div>Data at diagnosis and at the final post-treatment follow-up was extracted from the Tunisian GD registry.</div></div><div><h3>Results</h3><div>Among the 74 included patients 48 had BI (65%), being the third most frequent disease feature. Seventeen patients reported experiencing bone pain crises (23%). Twenty-two patients had elevated alkaline phosphatases (30%), among which, 14 had BI (19%). Standard skeletal X-rays revealed femur deformity in Erlenmeyer flask shape in 4 patients and lytic bone lesions in 2 other patients for whom screening for malignancies was negative. Magnetic resonance imaging of the spine and lower limbs revealed bone marrow infiltration in 19 patients. Aseptic osteonecrosis was identified in 6 patients on MRI (22%). Bone mineral density demonstrated osteoporosis in 7 cases (14%) and osteopenia in 17 others (35%). Specific therapies for GD showed a trend towards improvement of bone pain (velaglucerase alfa) and bone densitometry parameters (velaglucerase alfa and eliglustat) at the final post-treatment follow-up, although formal statistical testing was not feasible due to small and heterogeneous subgroups.</div></div><div><h3>Discussion and conclusions</h3><div>We presented descriptive data on BI derived from the Tunisian national Gaucher disease registry. This manifestation was common in our cohort. The limited size and heterogeneity of the treated subgroups precluded robust statistical comparisons. A major challenge in our setting is the delayed initiation of specific therapies, primarily due to late diagnosis and limited access to treatment.</div></div>","PeriodicalId":94193,"journal":{"name":"Reumatologia clinica","volume":"21 9","pages":"Article 501996"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145492945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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