Noelia Cabaleiro-Raña, Carmen Álvarez-Reguera, Evelin Cecilia Cervantes Pérez, Lucía Romar de Las Heras, Diego Santos-Álvarez, Carlos Álvarez Álvarez, Susana Romero-Yuste
{"title":"Lingual necrosis in giant-cell arteritis: a case-based review.","authors":"Noelia Cabaleiro-Raña, Carmen Álvarez-Reguera, Evelin Cecilia Cervantes Pérez, Lucía Romar de Las Heras, Diego Santos-Álvarez, Carlos Álvarez Álvarez, Susana Romero-Yuste","doi":"10.1007/s00296-025-05969-2","DOIUrl":"https://doi.org/10.1007/s00296-025-05969-2","url":null,"abstract":"<p><p>Lingual necrosis is a rare but serious complication of giant cell arteritis (GCA). Diagnosis can be difficult due to its atypical presentation, particularly when it occurs without the usual GCA symptoms. We present the case of a 59-year-old female with a history of migraines and smoking, who developed severe tongue pain and neck discomfort. Glucocorticoid therapy was promptly initiated due to clinical suspicion of GCA. However, when the steroid dosage was reduced, the patient's symptoms worsened despite initial improvement. Tocilizumab was subsequently introduced, and by discharge, there was a marked reduction in tongue swelling and evidence of progressive healing. A review of 55 reported cases of lingual necrosis, including ours, revealed an average age of 77.8 years and a female predominance. Hypertension was the most common cardiovascular risk factor, and 32.7% of cases presented with tongue necrosis as the initial manifestation. Most patients had their diagnosis confirmed by temporal artery biopsy, however in other cases, imaging verified the diagnosis. Even though glucocorticoids were still the primary treatment, 13 patients needed other immunosuppressive medications. Tocilizumab has demonstrated promising results in reducing glucocorticoid exposure and improving remission rates. This case highlights the importance of considering GCA in the differential diagnosis of lingual necrosis, even in younger patients or those with atypical presentations. To avoid irreparable consequences, early detection and timely treatment beginning are essential. Tocilizumab may be used as an effective therapeutic option for cases that don't respond to glucocorticoids.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 10","pages":"226"},"PeriodicalIF":2.9,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gabriela Rybka, Kazimierz Węglarczyk, Radosław Dziedzic, Maciej Siedlar, Mariusz Korkosz, Joanna Kosałka-Węgiel
{"title":"Serum levels of PECAM-1, ICAM-1, and VCAM-1 in patients with systemic lupus erythematosus: associations with disease activity and clinical features from a single-center study.","authors":"Gabriela Rybka, Kazimierz Węglarczyk, Radosław Dziedzic, Maciej Siedlar, Mariusz Korkosz, Joanna Kosałka-Węgiel","doi":"10.1007/s00296-025-05974-5","DOIUrl":"10.1007/s00296-025-05974-5","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by complex disturbances in both innate and adaptive immune responses, often leading to multi-organ involvement. One of the key features of SLE pathogenesis is endothelial dysfunction, which contributes to immune cell infiltration and vascular inflammation. In this context, adhesion molecules such as platelet endothelial cell adhesion molecule-1 (PECAM-1), intercellular adhesion molecule-1 (ICAM-1), and vascular cell adhesion molecule-1 (VCAM-1) may reflect the degree of endothelial activation. Therefore, we aimed to evaluate serum levels of PECAM-1, ICAM-1, and VCAM-1 in patients with SLE to investigate their potential role as biomarkers of disease activity and future relapse. We investigated 52 patients with SLE: 15 (28.8%) with disease exacerbation (SLE disease activity index [SLEDAI] ≥ 5 points) and 37 (71.2%) in remission (SLEDAI < 5 points), and 12 controls matched by sex and age. All patients met the 2019 EULAR/ACR criteria for SLE. Serum levels of selected adhesion molecules were determined in all participants with the Luminex Discovery Assay Human Premixed Multi-Analyte Kit. We observed no significant differences in the serum levels of PECAM-1 and ICAM-1 between active and inactive SLE patients or between active/inactive SLE patients and healthy controls, but also considering all SLE cases and the control group. However, VCAM-1 levels were 96.8% higher in the active SLE patients (p < 0.001) and 35.4% increase in inactive SLE as compared to controls (p = 0.016), with a similar level between active and inactive SLE patients (p = 0.11). There were no differences in the selected cytokine levels between patients with renal flare and those without renal flare in the active SLE group, but also in inactive SLE group regarding the presence of lupus nephritis despite from 43.3% higher level of ICAM-1 in patients with lupus nephritis (p = 0.016). There were no observed correlations between the levels of these individual cytokines themselves. Furthermore, regarding clinics, only PECAM-1 correlated with disease duration (r<sub>s</sub> = 0.42, p = 0.010) and VCAM-1 was associated with SLEDAI (r<sub>s</sub> = 0.47, p = 0.003). In the follow-up analysis, during a median observation period of 5.5 years, 10 out of 37 enrolled inactive SLE patients developed a disease flare, but no cytokine differences in baseline levels were found between those with or without a flare in the follow-up period. In our study, VCAM-1 levels were elevated in SLE patients compared to controls, with no significant differences between active and inactive SLE; however, they correlated with laboratory markers of disease activity. PECAM-1 and ICAM-1 showed limited diagnostic utility, though PECAM-1 positively correlated with disease duration.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"223"},"PeriodicalIF":2.9,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gamze Kılıç, Erkan Kılıç, İbrahim Tekeoğlu, Betül Sargın, Gizem Cengiz, Nihan Cüzdan Balta, Hakan Alkan, Sevtap Acer Kasman, Nilay Şahin, Kevser Orhan, İlknur Albayrak Gezer, Dilek Keskin, Cevriye Mülkoğlu, Hatice Reşorlu, Şebnem Ataman, Ajda Bal, Mehmet Tuncay Duruöz, Okan Kücükakkaş, Nesrin Şen, Murat Toprak, Ozan Volkan Yurdakul, Meltem Alkan Melikoğlu, Fikriye Figen Ayhan, Merve Baykul, Hatice Bodur, Mustafa Çalış, Erhan Çapkın, Gül Devrimsel, Sami Hizmetli, Ayhan Kamanlı, Yaşar Keskin, Hilal Ecesoy, Öznur Kutluk, Ömer Faruk Şendur, Sena Tolu, Tiraje Tuncer, Salih Özgöçmen, Kemal Nas
{"title":"Factors influencing the transition time from psoriasis to psoriatic arthritis: a real-world multicenter analysis.","authors":"Gamze Kılıç, Erkan Kılıç, İbrahim Tekeoğlu, Betül Sargın, Gizem Cengiz, Nihan Cüzdan Balta, Hakan Alkan, Sevtap Acer Kasman, Nilay Şahin, Kevser Orhan, İlknur Albayrak Gezer, Dilek Keskin, Cevriye Mülkoğlu, Hatice Reşorlu, Şebnem Ataman, Ajda Bal, Mehmet Tuncay Duruöz, Okan Kücükakkaş, Nesrin Şen, Murat Toprak, Ozan Volkan Yurdakul, Meltem Alkan Melikoğlu, Fikriye Figen Ayhan, Merve Baykul, Hatice Bodur, Mustafa Çalış, Erhan Çapkın, Gül Devrimsel, Sami Hizmetli, Ayhan Kamanlı, Yaşar Keskin, Hilal Ecesoy, Öznur Kutluk, Ömer Faruk Şendur, Sena Tolu, Tiraje Tuncer, Salih Özgöçmen, Kemal Nas","doi":"10.1007/s00296-025-05984-3","DOIUrl":"10.1007/s00296-025-05984-3","url":null,"abstract":"<p><p>To identify clinical and demographic predictors associated with the timing of transition from psoriasis (PsO) to psoriatic arthritis (PsA), and to compare the characteristics of patients with concurrent PsO-PsA onset versus those with prolonged transition. A multi-center, observational study was conducted using data from the Turkish League Against Rheumatism (TLAR) network including PsA patients fulfilling CASPAR criteria. Patients were categorized into two groups: Group 1 (concurrent PsO and PsA onset within ± 1 year) and Group 2 (prolonged transition to PsA, > 1 year after PsO). Demographic, clinical, and laboratory characteristics, disease activity, and patient-reported outcomes were compared between groups. Logistic regression was employed to determine independent predictors of prolonged transition. Among 799 patients (mean age 46.8 ± 12.3 years), 237 (29.7%) had concurrent onset and 562 (70.3%) had a prolonged transition, with a mean PsO-to-PsA interval of 12.9 ± 9.6 years. Depression (p = 0.005) and fatigue levels (p = 0.011) were significantly higher in patients with prolonged transition to PsA. Multivariate analysis revealed that scalp psoriasis (OR = 7.162), nail psoriasis (OR = 3.270), family history of PsO (OR = 1.813), and enthesitis ever (OR = 2.187) were associated with prolonged transition. Conversely, family history of PsA (OR = 0.421) and older age at PsO onset (OR = 0.957) predicted shorter transition. Prolonged transition from PsO to PsA is influenced by distinct clinical and demographic factors. Scalp/nail psoriasis, family history of PsO, and enthesitis ever may signal higher risk for prolonged PsA onset. Recognizing these markers can support timely referral and intervention, minimizing diagnostic delay and improving long-term patient outcomes.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"225"},"PeriodicalIF":2.9,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mikaela Wilson, Cyrus C Hsia, Kevin Rowan, Shih-Han Susan Huang, Tony Ng, Leslie N Zypchen, Robert Bona, Natasha Dehghan, Luke Y C Chen
{"title":"Successful treatment of Kimura disease with Mycophenolate Mofetil: a report of two cases and review of the literature.","authors":"Mikaela Wilson, Cyrus C Hsia, Kevin Rowan, Shih-Han Susan Huang, Tony Ng, Leslie N Zypchen, Robert Bona, Natasha Dehghan, Luke Y C Chen","doi":"10.1007/s00296-025-05985-2","DOIUrl":"10.1007/s00296-025-05985-2","url":null,"abstract":"","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"224"},"PeriodicalIF":2.9,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The impact of obesity and overweight on rheumatoid arthritis patients: real-world insights from a biologic and targeted synthetic DMARDs registry.","authors":"Tuba Güler, Fatma Gül Yurdakul, Şebnem Ataman, Özgür Akgül, Meltem Alkan Melikoğlu, Erhan Çapkın, Gülcan Gürer, Kenan Akgün, Nilay Şahin, Remzi Çevik, Hasan Fatih Çay, Lale Altan, İsmihan Sunar, Feride Göğüş, Ayhan Kamanlı, İlker Yağcı, Aylin Rezvani, Mehmet Tuncay Duruöz, Gizem Cengiz, İlhan Sezer, Hatice Bodur","doi":"10.1007/s00296-025-05978-1","DOIUrl":"10.1007/s00296-025-05978-1","url":null,"abstract":"<p><p>The Impact of Obesity and Overweight on Rheumatoid Arthritis Patients: Real-World Insights from a Biologic and Targeted Synthetic DMARDs Registry. The management of rheumatoid arthritis (RA) has advanced with biological and targeted synthetic disease-modifying anti-rheumatic drugs (b/tsDMARDs). However, obesity, a common comorbidity, impacts treatment and disease progression efficacy. This article examines the association between body weight, activity of the disease and the effectiveness of b/tsDMARDs in RA patients. This multicenter observational cohort study, conducted as part of the BioSTAR Registry, involved a total of 856 patients diagnosed with RA (168 males and 688 females). Patients were separated into groups based on BMI: Group 1 (\"normal BMI: ≥18.5 to < 25 kg/m<sup>2</sup> or underweight BMI: <18.5 kg/m<sup>2</sup>\") and Group 2 (\"overweight BMI: ≥25 to < 30 kg/m<sup>2</sup> or obese BMI: ≥30 kg/m<sup>2</sup>\"). Baseline socio-demographic and clinical data, medication use, switching status, and total glucocorticoid dose (mg-year) were collected. Age, disease duration, disease activity scores were considerably higher in obesity/overweight patients. Remission rates were lower in obese/overweight patients (35.6% and 25.9% in group 1 and 2 respectively; p = 0.026). The cumulative steroid doses, number of biologics and switches were similar between groups, regardless of pharmacological mechanisms. Regression analysis indicated that BMI was one of the factors affecting DAS28-CRP. The obesity/overweight rate is as high as 70.4% in RA patients. While obesity/overweight is related to enhanced disease activity, lower remission rates in RA, its effect on the choice and switch rates of b/tsDMARDs appears minimal. Clinical effectiveness remains consistent across drug classes, regardless of BMI.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"222"},"PeriodicalIF":2.9,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145016206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Obstetric and neonatal outcomes in pregnancies with familial mediterranean fever: a comparative study.","authors":"Murad Gezer, Özlem Pehlivan, Ümit Taşdemir, Büşra Cambaztepe, Halise Hande Gezer, Oya Demirci","doi":"10.1007/s00296-025-05977-2","DOIUrl":"10.1007/s00296-025-05977-2","url":null,"abstract":"<p><p>Familial Mediterranean Fever (FMF) is frequently diagnosed during reproductive ages, but its impact on pregnancy remains unclear. We aimed to evaluate maternal and neonatal outcomes in FMF pregnancies by comparing before and after diagnosis periods as well as with healthy controls, and to identify predictors of adverse outcomes. This retrospective, cross-sectional study included 215 pregnancies (129 before and 86 after FMF diagnosis) from 81 women with FMF and 94 pregnancies from 42 healthy controls. Demographic data, disease characteristics, medications, and genetic mutations were recorded. Maternal and neonatal outcomes were compared, and multivariate logistic regression was used to identify predictors of adverse maternal outcomes. After FMF diagnosis, live birth occurred in 69 cases (80.2%), miscarriage in 15 (17.4%), and stillbirth in 2 (2.3%). In contrast, before diagnosis, live birth occurred in 104 cases (80.6%), miscarriage in 17 (13.4%), and stillbirth in 7 (5.4%). Among pregnancies after diagnosis, cesarean section was more frequent (38 cases, 53.5% vs. 29 cases, 25.9%, p < 0.001), as well as adverse maternal outcomes (58 cases, 67.4% vs. 63 cases, 48.8%, p = 0.007), compared to before diagnosis. Compared with controls, FMF patients showed no significant differences in maternal or neonatal outcomes. Among 86 pregnancies after diagnosis, colchicine was used in 66 (76.7%), and FMF flares were reported in 22 cases (31.9%) among pregnancies resulting in live birth, most commonly during the second trimester. Logistic regression identified older maternal age (OR 1.12, 95% CI: 1.02-1.25, p = 0.02) and disease flares before pregnancy (OR 6.96, 95% CI: 1.40-34.58, p = 0.02) as independent predictors of adverse maternal outcomes. Maternal and neonatal outcomes in FMF pregnancies were comparable to those in controls. Advanced maternal age and disease activity before conception were identified as independent predictors of adverse maternal outcomes.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"220"},"PeriodicalIF":2.9,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ayşen Akgöz, Yavuz Yakut, Orkun Tüfekçi, Batuhan E Aktaş, Erkin O Sari, Aysima Barlak, Kezban Bayramlar, Şule Apraş Bilgen, Feza Korkusuz, Edibe Ünal
{"title":"Biopsychosocial model-based exercise improves muscle strength, proprioception, pain, function, and quality of life in rheumatoid arthritis patients with knee involvement: a randomized controlled clinical tiral.","authors":"Ayşen Akgöz, Yavuz Yakut, Orkun Tüfekçi, Batuhan E Aktaş, Erkin O Sari, Aysima Barlak, Kezban Bayramlar, Şule Apraş Bilgen, Feza Korkusuz, Edibe Ünal","doi":"10.1007/s00296-025-05976-3","DOIUrl":"10.1007/s00296-025-05976-3","url":null,"abstract":"","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"221"},"PeriodicalIF":2.9,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
İrem Coşkuntan, Ferda Paçal, Fulya Coşan, Esin Çetin Aktaş, Günnur Deniz, Duran Üstek, Sema Sırma Ekmekci, Neslihan Abacı, Ahmet Gül
{"title":"Integrated stress response in Behçet disease: expression analyses in peripheral blood and synovial monocytes.","authors":"İrem Coşkuntan, Ferda Paçal, Fulya Coşan, Esin Çetin Aktaş, Günnur Deniz, Duran Üstek, Sema Sırma Ekmekci, Neslihan Abacı, Ahmet Gül","doi":"10.1007/s00296-025-05972-7","DOIUrl":"10.1007/s00296-025-05972-7","url":null,"abstract":"<p><p>Behçet disease (BD) is a chronic, relapsing inflammatory disorder, and human leukocyte antigen (HLA)-B*51 is considered to be the strongest genetic susceptibility factor. The integrated stress response (ISR), defined by the eIF2α/ATF4 axis, is a signaling network that maintains protein homeostasis and regulates innate immunity in eukaryotic cells; pathological activation of this pathway can affect the immune response and cause various diseases. In this study, we aimed to investigate the role of the ISR signaling pathway in the pathogenesis of BD. The study group comprised 83 BD patients and 33 matched healthy controls. eIF2α, PERK, HRI, HSPB8, and ATF4 mRNA expression analysis was performed by real-time quantitative polymerase chain reaction (RTq-PCR) using cDNA prepared from monocytes isolated from peripheral blood and synovial fluid. HLA-B*51 status was available for 73 BD patients. ISR analysis revealed decreased expression of eIF2α and increased expression of PERK, HRI, HSPB8, and ATF4 genes in BD compared to controls (all p < 0.05). Findings of synovial fluid monocytes of active BD patients with arthritis showed a consistent (p = 0.0417, one-tailed) increase in HSPB8 expression and strong correlation with those in corresponding blood monocytes. BD patients exhibit dysregulated ISR signatures regardless of HLA-B*51 status. Despite limitations in sample size and in vivo validation, our findings implicate these signaling pathways as potential contributors to the pathogenesis of BD and possibly other the major histocompatibility complex (MHC) class I-associated diseases.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"219"},"PeriodicalIF":2.9,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical spectrum of rhupus syndrome: a series of eight cases.","authors":"Lekshmi Minikumari Rahulan, Vikas Agarwal","doi":"10.1007/s00296-025-05979-0","DOIUrl":"10.1007/s00296-025-05979-0","url":null,"abstract":"","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"218"},"PeriodicalIF":2.9,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.","authors":"Gunjan Rana, Garima Singh, Mansi Mehta, Arash Mollaeian","doi":"10.1007/s00296-025-05963-8","DOIUrl":"10.1007/s00296-025-05963-8","url":null,"abstract":"<p><strong>Background: </strong>VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified autoinflammatory disorder caused by somatic UBA1 mutations. It presents with intractable systemic inflammation and hematologic abnormalities. Diagnostic delay and limited therapeutic consensus pose challenges in clinical practice.</p><p><strong>Objective: </strong>To illustrate the phenotypic heterogeneity and therapeutic response in two patients with genetically confirmed VEXAS syndrome, and to conduct a targeted narrative review of the literature focused on treatment outcomes.</p><p><strong>Methods: </strong>Two adult male patients presenting with multisystem inflammatory features and cytopenias were diagnosed with VEXAS syndrome via detection of somatic UBA1 mutations on next-generation sequencing. To contextualize these cases, we performed a narrative literature review using PubMed, Scopus, Web of Science and, Directory of Open Access Journals (DOAJ) for studies published up to October 2024. Search terms included \"Autoinflammatory Diseases,\" \"Mutation, Somatic,\" \"Ubiquitin-Activating Enzymes,\" \"Glucocorticoids,\" \"Biologic Therapy,\" and \"Stem Cell Transplantation.\" Only peer-reviewed, English-language studies involving adult human patients with clinically characterized VEXAS syndrome were included. Pediatric cases and reports limited to genomic analysis without clinical correlation were excluded.</p><p><strong>Results: </strong>Both patients exhibited classic features of VEXAS, including multisystem inflammation and cytopenias. Genetic sequencing confirmed UBA1 mutations. Treatment with corticosteroids combined with biologic agents such as tocilizumab in one patient and canakinumab in the other achieved clinical stabilization while allowing for reduction of corticosteroid doses. Literature review indicates that while glucocorticoids remain first-line therapy, IL-1 and IL-6 inhibitors demonstrate promising steroid-sparing efficacy in selected patients. Data on long-term outcomes and standardization of care remain limited.</p><p><strong>Conclusion: </strong>These cases reflect the diagnostic and therapeutic complexities of VEXAS syndrome. A high index of suspicion, followed by genetic testing, is essential for timely diagnosis. Biologic therapies targeting IL-1 and IL-6 pathways may offer effective steroid-sparing options in refractory cases. Further prospective studies are needed to define optimal treatment strategies.</p>","PeriodicalId":21322,"journal":{"name":"Rheumatology International","volume":"45 9","pages":"217"},"PeriodicalIF":2.9,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}