Reumatologia Clinica最新文献

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Comparison of IgG4 related disease in patients aged ≤ 25 years (pediatric, adolescent, and young adult) and those aged ≥ 50 years 年龄≤25岁(儿童、青少年和青壮年)与年龄≥50岁患者中IgG4相关疾病的比较
IF 1.3
Reumatologia Clinica Pub Date : 2026-02-01 Epub Date: 2026-01-07 DOI: 10.1016/j.reuma.2025.502052
Romina Andrea Calvo , Jesica Romina Gallo , Alberto Ortiz , Sergio Paira
{"title":"Comparison of IgG4 related disease in patients aged ≤ 25 years (pediatric, adolescent, and young adult) and those aged ≥ 50 years","authors":"Romina Andrea Calvo ,&nbsp;Jesica Romina Gallo ,&nbsp;Alberto Ortiz ,&nbsp;Sergio Paira","doi":"10.1016/j.reuma.2025.502052","DOIUrl":"10.1016/j.reuma.2025.502052","url":null,"abstract":"<div><h3>Objectives</h3><div>To evaluate and compare the manifestations of IgG4-RD in patients<!--> <!-->≤<!--> <!-->25 years of age (pediatric, adolescents and young adults) and those<!--> <!-->≥<!--> <!-->50 years of age.</div></div><div><h3>Materials and methods</h3><div>A retrospective descriptive study of 64 patients diagnosed with IgG4-RD based on the Umehara 2011/2020 criteria and the ACR/EULAR 2019 classification criteria, covering the period from 2014 to 2023. The medical records of these two age groups were reviewed.</div></div><div><h3>Results</h3><div>Of the 64 patients, 7 were ≤25 years old (11%) and 35 were ≥50 years old (54.7%). Among patients<!--> <!-->≤<!--> <!-->25 years old, 6 were female, with a mean age at consultation of 21.3 years (± 5.06). Five (71%) had single-organ involvement, while two presented with multi-organ involvement. In the ≥50 years group, females also predominated (57%), with a mean age at consultation of 60 years (± 7.4) and more constitutional symptoms were observed, multi-organ involvement (<em>p</em> <!-->=<!--> <!-->0.009), asthenia (<em>p</em> <!-->=<!--> <!-->0.047), lymph nodes (<em>p</em> <!-->=<!--> <!-->0.047), submandibular gland involvement (<em>p</em> <!-->=<!--> <!-->0.009), lung involvement (<em>p</em> <!-->=<!--> <!-->0.013) and parotidomegaly (<em>p</em> <!-->=<!--> <!-->0.097). Ocular involvement was more frequent in those under 25 years of age; however, in those over 50 years of age, this involvement was mostly bilateral (<em>p</em> <!-->=<!--> <!-->0.011). There were no statistically significant differences in laboratory variables between both groups. There was a predominance of lymphoplasmacytic infiltrate in the majority of the biopsies performed. In cases of ocular involvement, histopathological analysis revealed lymphoplasmacytic infiltrate with no differences in the presence of storiform fibrosis, obliterative phlebitis, or eosinophilic infiltrate. However, the latter was more frequent in older patients.</div></div><div><h3>Conclusion</h3><div>Reviewing the literature and describing our data on IgG4-RD in children is crucial, as pediatric physicians often overlook this condition. This fact, as in adult cases, could help prevent unnecessary surgeries and irreversible organ damage.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 2","pages":"Article 502052"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081553","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}
引用次数: 0
Osteopoiquilia: descripción de un caso. Hallazgos radiológicos y diagnóstico diferencial 骨质疏松症:病例描述。放射学发现和鉴别诊断
IF 1.3
Reumatologia Clinica Pub Date : 2026-02-01 Epub Date: 2026-01-21 DOI: 10.1016/j.reuma.2025.502071
Jose Ordás Martínez , Paula Pérez García , Pedro Baenas González , Carolina Díez Morrondo
{"title":"Osteopoiquilia: descripción de un caso. Hallazgos radiológicos y diagnóstico diferencial","authors":"Jose Ordás Martínez ,&nbsp;Paula Pérez García ,&nbsp;Pedro Baenas González ,&nbsp;Carolina Díez Morrondo","doi":"10.1016/j.reuma.2025.502071","DOIUrl":"10.1016/j.reuma.2025.502071","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 2","pages":"Article 502071"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081635","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}
引用次数: 0
Right ventriculoarterial coupling as a marker of subclinical myocardial damage in rheumatoid arthritis 右心室-动脉偶联是类风湿关节炎亚临床心肌损害的标志
IF 1.3
Reumatologia Clinica Pub Date : 2026-02-01 Epub Date: 2025-08-22 DOI: 10.1016/j.reuma.2025.501945
María Agustina Gómez-Rojas , Yale Tung-Chen
{"title":"Right ventriculoarterial coupling as a marker of subclinical myocardial damage in rheumatoid arthritis","authors":"María Agustina Gómez-Rojas ,&nbsp;Yale Tung-Chen","doi":"10.1016/j.reuma.2025.501945","DOIUrl":"10.1016/j.reuma.2025.501945","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 2","pages":"Article 501945"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081636","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}
引用次数: 0
Elevated oxidative stress markers in patients with ankylosing spondylitis: A case–control study 强直性脊柱炎患者氧化应激标志物升高:一项病例对照研究
IF 1.3
Reumatologia Clinica Pub Date : 2026-02-01 Epub Date: 2025-12-18 DOI: 10.1016/j.reuma.2025.502047
Zouhour Gassara , Hela Fourati , Mariem Meseddi , Aida Elleuch , Afef Feki , Mohamed Hedi Kallel , Sofien Baklouti , Khansa Chaabouni , Fatma Ayadi
{"title":"Elevated oxidative stress markers in patients with ankylosing spondylitis: A case–control study","authors":"Zouhour Gassara ,&nbsp;Hela Fourati ,&nbsp;Mariem Meseddi ,&nbsp;Aida Elleuch ,&nbsp;Afef Feki ,&nbsp;Mohamed Hedi Kallel ,&nbsp;Sofien Baklouti ,&nbsp;Khansa Chaabouni ,&nbsp;Fatma Ayadi","doi":"10.1016/j.reuma.2025.502047","DOIUrl":"10.1016/j.reuma.2025.502047","url":null,"abstract":"<div><h3>Background</h3><div>Ankylosing spondylitis (AS) is a chronic inflammatory musculoskeletal disease with an unclear pathogenesis. Oxidative stress (OS) is currently becoming an area of interest in AS pathogenesis and progression.</div></div><div><h3>Objective</h3><div>The aim of this study was to evaluate serum oxidative and anti-oxidative status in patients with AS and to assess the relationships between OS markers and disease indices.</div></div><div><h3>Patients and methods</h3><div>Forty-four AS patients (mean age: 44.9<!--> <!-->±<!--> <!-->14.12 years, sex-ratio M/F: 2.14) and 46 healthy controls (mean age: 44.62<!--> <!-->±<!--> <!-->10.74 years, sex-ratio M/F: 2.28) with no known diseases were included in the study. Oxidant markers – advanced oxidative protein products (AOPP) and malondialdehyde (MDA) – and anti-oxidant molecules – catalase (CAT), glutathione peroxidase (GPx) and reduced gluthatione (GSH) – were measured. The Bath ankylosing spondylitis disease activity index (BASDAI) and the Bath ankylosing spondylitis functional index (BASFI) were calculated.</div></div><div><h3>Results</h3><div>In AS patients, mean disease duration was 21.11 months [range: 2–54] and the mean BASDAI and BASFI scores were 4.52<!--> <!-->±<!--> <!-->1.45 and 4.64<!--> <!-->±<!--> <!-->2.52, respectively. No differences in term of age, sex, body mass index, blood pressure, glucose, lipid profile, uric acid, total bilirubin and homocystein level were observed. The levels of oxidant markers (AOPP and MDA) were significantly higher (<em>p</em> <!-->&lt;<!--> <!-->10<sup>−6</sup>) and the levels of anti-oxidant markers (CAT, GPx and GSH) were significantly lower (<em>p</em> <!-->&lt;<!--> <!-->10<sup>−6</sup>) in AS patients than those in healthy control subjects. Correlation analysis showed a significant positive correlation between AOPP levels and BASDAI score (<em>p</em> <!-->=<!--> <!-->0.001) and BASFI score (<em>p</em> <!-->=<!--> <!-->0.006) and a significant negative correlation between GPx activity and BASDAI score (<em>p</em> <!-->=<!--> <!-->0.001) and BASFI score (<em>p</em> <!-->=<!--> <!-->0.01).</div></div><div><h3>Conclusion</h3><div>This study demonstrates an oxidative stress condition characterized by increased oxidant markers and decreased antioxidant capacity in AS patients compared to controls, suggesting that OS may play a crucial role in the pathogenesis and progression of the disease.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 2","pages":"Article 502047"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081550","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}
引用次数: 0
Rheumatoid arthritis-associated interstitial lung disease (RA-ILD): Systemic disease activity correlates with lung inflammation 类风湿关节炎相关间质性肺病(RA-ILD):全身性疾病活动性与肺部炎症相关
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-12-21 DOI: 10.1016/j.reuma.2025.502045
Espiridión Ramos-Martínez , Heidegger Mateos-Toledo , Mayra Mejia , Jorge Rojas-Serrano
{"title":"Rheumatoid arthritis-associated interstitial lung disease (RA-ILD): Systemic disease activity correlates with lung inflammation","authors":"Espiridión Ramos-Martínez ,&nbsp;Heidegger Mateos-Toledo ,&nbsp;Mayra Mejia ,&nbsp;Jorge Rojas-Serrano","doi":"10.1016/j.reuma.2025.502045","DOIUrl":"10.1016/j.reuma.2025.502045","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502045"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877081","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}
引用次数: 0
Evaluación de la calidad de vida sexual en pacientes con artritis psoriásica y validación al español del cuestionario QualipsoSex 银屑病关节炎患者性生活质量评估和西班牙语QualipsoSex问卷验证
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-12-18 DOI: 10.1016/j.reuma.2025.502038
María de los Ángeles Correa, Carolina A. Isnardi, Gisele A. Luna, Tatiana Barbich, Virginia Carrizo Abarza, Gustavo Citera, Emilce E. Schneeberger
{"title":"Evaluación de la calidad de vida sexual en pacientes con artritis psoriásica y validación al español del cuestionario QualipsoSex","authors":"María de los Ángeles Correa,&nbsp;Carolina A. Isnardi,&nbsp;Gisele A. Luna,&nbsp;Tatiana Barbich,&nbsp;Virginia Carrizo Abarza,&nbsp;Gustavo Citera,&nbsp;Emilce E. Schneeberger","doi":"10.1016/j.reuma.2025.502038","DOIUrl":"10.1016/j.reuma.2025.502038","url":null,"abstract":"<div><h3>Objectives</h3><div>To validate the questionnaire QualipsoSex (QSQ) in patients with psoriatic arthritis (PsA), assess sexual quality of life and clinical/sociodemographic impact on it.</div></div><div><h3>Material and methods</h3><div>Sexually active adult with PsA. Sexual quality of life was assessed using Qualisex and QSQ. QSQ includes 10 questions, and it is calculated the sum of the total items, 40 points being the worst case.</div></div><div><h3>Results</h3><div>77 patients, 59.7% women, median (<em>m) age</em> 57 years. Presented disease activity and mild skin involvement. Qualisex <em>m</em> was 1.6 and QSQ <em>m</em> 5. The QSQ demonstrated high reliability (Cronbach's alpha 0.93), floor effect 1.3% and ceiling 24.7%. The correlation between QSQ and Qualisex was moderated. Sexual quality of life was significantly worse in patients who do not practice physical activity, those with psoriasis, morning stiffness, higher disease activity, anxiety, depression and/or suicidal symptoms. High disease activity (B 0.24, IC95% 0.04-0.45) and moderate to severe depression (B 0.57, IC95% 0.04-1.10) were associated with worse sexual quality of life.</div></div><div><h3>Conclusion</h3><div>QSQ is valid and reliable. Higher disease activity and major depression were associated with poorer outcomes.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502038"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877076","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}
引用次数: 0
Remote monitoring tools in rheumatoid arthritis patients: FACIT-fatigue and HAQ 类风湿性关节炎患者的远程监测工具:facit -疲劳和HAQ
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-11-26 DOI: 10.1016/j.reuma.2025.502020
Elena Grau García , Pablo Francisco Muñoz Rodriguez , Hikmat Charia , Jose Andrés Roman Ivorra
{"title":"Remote monitoring tools in rheumatoid arthritis patients: FACIT-fatigue and HAQ","authors":"Elena Grau García ,&nbsp;Pablo Francisco Muñoz Rodriguez ,&nbsp;Hikmat Charia ,&nbsp;Jose Andrés Roman Ivorra","doi":"10.1016/j.reuma.2025.502020","DOIUrl":"10.1016/j.reuma.2025.502020","url":null,"abstract":"<div><h3>Objective</h3><div>To analyze the association of clinical activity with pain, fatigue and disability in patients with RA.</div></div><div><h3>Methods</h3><div>Prospective observational study of 3 months of follow-up in 60 patients who initiate biological or anti-JAK therapy. We analyzed changes in the PROs reported by patients through FACIT-fatigue, HAQ questionnaires and pain VAS. Clinical activity through DAS28, DAS28-CRP, SDAI and CDAI index was measured.</div></div><div><h3>Results</h3><div>We observed a statistically significant association between clinical activity and the fatigue, pain and disability (<em>p</em> <!-->&lt;<!--> <!-->0.001). A greater fatigue was associated with a greater perception of pain and high tender joint number (<em>p</em> <!-->=<!--> <!-->0.002). Patients who discontinued treatment presented higher fatigue (<em>p</em> <!-->=<!--> <!-->0.044) and disability (<em>p</em> <!-->=<!--> <!-->0.0013) than those who continued treatment, regardless of the type of treatment, the time of evolution, as well as whether or not they had received previous biological therapies.</div></div><div><h3>Conclusion</h3><div>PROs would be helpful in the disease control in cases where a remote monitoring is needed, since PROs showed a significant association with clinical activity in RA.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502020"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877079","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}
引用次数: 0
Barriers and facilitators to cardiovascular risk control in systemic lupus erythematosus: A qualitative study 系统性红斑狼疮心血管风险控制的障碍和促进因素:一项定性研究
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-12-17 DOI: 10.1016/j.reuma.2025.502037
Halbert Hernández-Negrín , Nerea Catena-Granados , Ricardo Gómez-Huelgas , María Rosa Bernal-López
{"title":"Barriers and facilitators to cardiovascular risk control in systemic lupus erythematosus: A qualitative study","authors":"Halbert Hernández-Negrín ,&nbsp;Nerea Catena-Granados ,&nbsp;Ricardo Gómez-Huelgas ,&nbsp;María Rosa Bernal-López","doi":"10.1016/j.reuma.2025.502037","DOIUrl":"10.1016/j.reuma.2025.502037","url":null,"abstract":"","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502037"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877080","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}
引用次数: 0
Peregrinaje de pacientes con artritis reumatoidea pertenecientes a la comunidad qom en el circuito de atención en 2 provincias de Argentina. Estudio mixto 阿根廷2个省的类风湿关节炎患者的朝圣之旅。联合研究
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-12-02 DOI: 10.1016/j.reuma.2025.502021
Rosana Quintana , Cecilia Camacho , Milagros Caamaño , Marcela Alvarez , Graciela Gomez , Evelyn Oviedo , Andrés Honeri , Antonela Vannucci , Maria Elena Calvo , Lorena Savarece , Bernardo A. Pons-Estel , Ingris Pelaez-Ballestas , Marcela Valdata
{"title":"Peregrinaje de pacientes con artritis reumatoidea pertenecientes a la comunidad qom en el circuito de atención en 2 provincias de Argentina. Estudio mixto","authors":"Rosana Quintana ,&nbsp;Cecilia Camacho ,&nbsp;Milagros Caamaño ,&nbsp;Marcela Alvarez ,&nbsp;Graciela Gomez ,&nbsp;Evelyn Oviedo ,&nbsp;Andrés Honeri ,&nbsp;Antonela Vannucci ,&nbsp;Maria Elena Calvo ,&nbsp;Lorena Savarece ,&nbsp;Bernardo A. Pons-Estel ,&nbsp;Ingris Pelaez-Ballestas ,&nbsp;Marcela Valdata","doi":"10.1016/j.reuma.2025.502021","DOIUrl":"10.1016/j.reuma.2025.502021","url":null,"abstract":"<div><h3>Objectives</h3><div>To describe and compare the health situation of rheumatoid arthritis (RA) patients from the <em>qom</em> community in the cities of Presidencia Roque Sáenz Peña (PRSP, Chaco Province) and Rosario (Santa Fe Province), focusing on access to the healthcare system and its limitations.</div></div><div><h3>Methods</h3><div>A sequential mixed-methods approach was used. Quantitative phase: implementation of the Community Oriented Program for Control of Rheumatic Diseases (COPCORD) methodology. Qualitative phase: ethnographic approach incorporating the concept of “healthcare pilgrimage”.</div></div><div><h3>Results</h3><div>Participants living in Rosario reported a higher intensity of pain (202 [42.9%] vs. 14 [11.0%]; <em>P</em>&lt;.0001), associated with a greater proportion of functional limitation according to the HAQ-DI score ≥0.8 (302 [64.1%] vs. 39 [30.2%]; <em>P</em>&lt;.0001). Among the diagnoses in PRSP, osteoarthritis was more prevalent than in Rosario (49 [10.1%] vs. 67 [4.0%]; <em>P</em>&lt;.0001), while RA prevalence was the same in both cities (12 [2.4%] vs. 40 [2.4%]; <em>P</em>=.991). Three main topics emerged from the ethnographic analysis: pilgrimage within the healthcare system, barriers to specialized care, and access to treatment.</div></div><div><h3>Conclusion</h3><div>RA patients in both cities face significant challenges in navigating the healthcare system, underscoring their vulnerability. It is essential to adopt care models that integrate local knowledge and consider patients’ mobility trajectories, ensuring access to and continuity of the treatments prescribed.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502021"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877077","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}
引用次数: 0
Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations MEFV基因变异对家族性地中海热临床表现的影响:关注外显子2突变
IF 1.3
Reumatologia Clinica Pub Date : 2026-01-01 Epub Date: 2025-12-15 DOI: 10.1016/j.reuma.2025.502040
Bilal Kulaksiz , Beste Acar , Oguzhan Omer Kizilkaya , Berkay Aktas , Serdal Ugurlu
{"title":"Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations","authors":"Bilal Kulaksiz ,&nbsp;Beste Acar ,&nbsp;Oguzhan Omer Kizilkaya ,&nbsp;Berkay Aktas ,&nbsp;Serdal Ugurlu","doi":"10.1016/j.reuma.2025.502040","DOIUrl":"10.1016/j.reuma.2025.502040","url":null,"abstract":"<div><h3>Aim</h3><div>Our study aimed to evaluate the clinical presentation, demographics and colchicine response in Familial Mediterranean Fever (FMF) patients with Exon 2 mutations (E148Q, R202Q) compared to those with Exon 10 mutations.</div></div><div><h3>Methods</h3><div>A single-center retrospective study was conducted on 98 adult FMF patients diagnosed between 2009 and 2019. Medical records of 41 patients with Exon 2 and 57 patients with Exon 10 mutations were reviewed. In Exon 2 group, 3 patients were homozygous for E148Q, 33 were heterozygous (21 with E148Q, 12 with R202Q), and 5 were compound heterozygous for E148Q and R202Q. In the Exon 10 group, 20 patients were homozygous for M694V, 18 were heterozygous, and 19 had compound heterozygous mutations involving M694V and other Exon 10 variants (V726A, M680I, A744S, R761H). Data on demographics, symptom onset, clinical manifestations, family history, colchicine response were analyzed.</div></div><div><h3>Results</h3><div>Patients with Exon 2 mutations were older at symptom onset (<em>p</em> <!-->&lt;<!--> <!-->0.001) and had fewer family histories (<em>p</em> <!-->&lt;<!--> <!-->0.001). Typical FMF symptoms like fever (<em>p</em> <!-->=<!--> <!-->0.030) and abdominal pain (<em>p</em> <!-->=<!--> <!-->0.018) were more common in Exon 10 patients. Conversely, musculoskeletal symptoms, including arthralgia (<em>p</em> <!-->=<!--> <!-->0.004) and myalgia (<em>p</em> <!-->=<!--> <!-->0.013), were more frequent in Exon 2 patients. Both groups had similar rates of amyloidosis (<em>p</em> <!-->=<!--> <!-->1.0). Colchicine was effective in 91.7% of Exon 2 patients and 96.4% of Exon 10 patients (<em>p</em> <!-->=<!--> <!-->0.376).</div></div><div><h3>Conclusion</h3><div>Exon 2 mutations are associated with atypical presentations in FMF. Arthralgia and myalgia presentations are mostly indicative of Exon 2 variant, while a family history and earlier age of symptom onset are characteristic of Exon 10 variant. Clinicians should recognize the complex nature of FMF and adopt a personalized approach.</div></div>","PeriodicalId":47115,"journal":{"name":"Reumatologia Clinica","volume":"22 1","pages":"Article 502040"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877078","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}
引用次数: 0
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