Mediterranean Journal of Rheumatology最新文献

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Brachial Plexitis as a Rare Manifestation of Giant Cell Arteritis: A Case-Based Review. 臂丛炎是巨细胞动脉炎的一种罕见表现:一个基于病例的回顾。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-09-01 DOI: 10.31138/mjr.190626.rsa
Noelia Cabaleiro-Raña, Evelin Cecilia Cervantes Pérez, Diego Santos-Álvarez, Carmen Álvarez-Reguera, Lucía Romar de Las Heras, Sabela Fernández Aguado, María Luz Carpintero-Saiz, Susana Romero-Yuste
{"title":"Brachial Plexitis as a Rare Manifestation of Giant Cell Arteritis: A Case-Based Review.","authors":"Noelia Cabaleiro-Raña, Evelin Cecilia Cervantes Pérez, Diego Santos-Álvarez, Carmen Álvarez-Reguera, Lucía Romar de Las Heras, Sabela Fernández Aguado, María Luz Carpintero-Saiz, Susana Romero-Yuste","doi":"10.31138/mjr.190626.rsa","DOIUrl":"10.31138/mjr.190626.rsa","url":null,"abstract":"<p><strong>Background: </strong>Giant cell arteritis (GCA) is the most common systemic vasculitis, typically involving large and medium-sized arteries. It usually presents with cranial ischemic symptoms, although peripheral nervous system involvement may also occur. Brachial radiculoplexopathy is a particularly rare manifestation. Early recognition is essential, as prompt corticosteroid therapy generally results in substantial neurological improvement.</p><p><strong>Case report: </strong>A 69-year-old man with a history of arterial hypertension, diabetes mellitus, dyslipidaemia, hypothyroidism, and polymyalgia rheumatica presented with headache, cervical pain, and left upper limb weakness. Electrophysiological studies showed acute neurogenic changes involving the C5-C6 distribution. Temporal artery ultrasound showed a halo sign, and biopsy confirmed the diagnosis of GCA. The patient achieved full neurological recovery after four weeks of treatment with corticosteroids and tocilizumab.</p><p><strong>Literature review: </strong>A narrative review was conducted using PubMed/MEDLINE, Scopus, Embase, and Web of Science databases. Twenty-nine reported cases of brachial radiculoplexopathy associated with GCA, were identified. The mean age was 68 years, with a balanced sex distribution. Neurological in-volvement was bilateral in 59% of cases and mainly affected the C5-C6 roots. All patients had elevated in-flammatory markers, and temporal artery biopsy confirmed GCA in 97% of cases. Most patients respond-ed rapidly to corticosteroid therapy, while only a few required additional immunosuppressive treatment.</p><p><strong>Conclusions: </strong>Brachial radiculoplexopathy is a rare neurological manifestation of GCA that may occur at disease onset and pose a diagnostic challenge. Awareness is essential for timely diagnosis and treatment, as most patients respond favourably to corticosteroids. Tocilizumab may represent an effective steroid-sparing option in selected cases.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"608-613"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FcRn Inhibition in Autoantibody-Mediated Autoimmune Diseases: From Broad Immunosuppression to Precision IgG Modulation. FcRn在自身抗体介导的自身免疫性疾病中的抑制:从广泛的免疫抑制到精确的IgG调节。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-09-01 DOI: 10.31138/mjr.100826.rhf
George P Chrousos, Fotini N Skopouli, Haralampos M Moutsopoulos
{"title":"FcRn Inhibition in Autoantibody-Mediated Autoimmune Diseases: From Broad Immunosuppression to Precision IgG Modulation.","authors":"George P Chrousos, Fotini N Skopouli, Haralampos M Moutsopoulos","doi":"10.31138/mjr.100826.rhf","DOIUrl":"10.31138/mjr.100826.rhf","url":null,"abstract":"<p><p>The therapeutic landscape of autoimmune disease is undergoing a conceptual transition. For decades, treatment has relied predominantly on broad immunosuppression, which has substantially reduced morbidity and mortality but remains limited by systemic toxicity and impaired host defence. Advances in molecular immunology have enabled mechanism-based therapies that target pathogenic pathways more selectively while preserving much of normal immune function. Inhibition of the neonatal Fc receptor (FcRn) is a leading example of this approach in IgG-mediated autoimmunity. By interrupting FcRn-dependent IgG recycling, FcRn antagonists accelerate the degradation of circulating IgG, including pathogenic autoanti-bodies, without directly suppressing lymphocyte production or broadly inhibiting cytokine networks. This review summarises the biological basis of FcRn-mediated IgG homeostasis, the rationale for therapeutic FcRn blockade, and its clinical implications across autoantibody-mediated autoimmune diseases. FcRn inhibition exemplifies the transition from empirical immunosuppression to precision immunomodulation and provides a platform for selectively modifying the persistence of disease-causing antibodies.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"457-463"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
JAK Inhibitors in Colchicine Resistant FMF Patients: A Case-Based Review. JAK抑制剂在秋水仙碱耐药FMF患者中的应用:一项基于病例的综述
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-09-01 DOI: 10.31138/mjr.281125.mrk
Farhad Salehzadeh, Rasol Molatefi, Faeze Babazadeh Khoei
{"title":"JAK Inhibitors in Colchicine Resistant FMF Patients: A Case-Based Review.","authors":"Farhad Salehzadeh, Rasol Molatefi, Faeze Babazadeh Khoei","doi":"10.31138/mjr.281125.mrk","DOIUrl":"10.31138/mjr.281125.mrk","url":null,"abstract":"<p><strong>Background: </strong>Familial Mediterranean Fever (FMF) is an autoinflammatory disorder typically controlled with colchicine; however, 5-10% of patients exhibit colchicine resistance or intolerance. Although biologic therapies targeting IL-1 may be effective, their cost and limited accessibility create a need for alternative oral treatments. Janus kinase (JAK) inhibitors have emerged as potential modulators of multiple inflammatory pathways implicated in FMF pathogenesis.</p><p><strong>Methods: </strong>We conducted a retrospective case series of three adults with colchicine-resistant FMF who had previously demonstrated partial but inadequate responses to colchicine and dapsone combination therapy. All patients-initiated treatment with an oral JAK inhibitor at 5 mg twice daily. None of the patients had received IL-1 or IL-6 inhibitors prior to JAK inhibitor therapy. Clinical outcomes, including attack frequency, remission status, and adverse events, were documented over 9-12 months of follow-up.</p><p><strong>Results: </strong>All three patients achieved complete remission, defined as the absence of any FMF attacks throughout the follow-up period. No infectious, hematologic, thrombotic, or hepatic adverse events were observed.</p><p><strong>Conclusion: </strong>JAK inhibitor therapy was associated with rapid, complete, and sustained remission in adults with colchicine-resistant FMF. These findings support the growing evidence that JAK inhibition may offer an effective oral alternative to biologics in refractory FMF.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"603-607"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systemic Lupus Erythematosus and the Risk of Coeliac Disease: Substantial Discrepancies Among Studies Highlight a Significant Research Gap. 系统性红斑狼疮和乳糜泻的风险:研究之间的实质性差异突出了一个重要的研究缺口。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-09-01 DOI: 10.31138/mjr.101125.har
Nektarios Marios Liapis, Arriana Gkouvi, Theodora Simopoulou, Dimitrios P Bogdanos, Christina G Katsiari
{"title":"Systemic Lupus Erythematosus and the Risk of Coeliac Disease: Substantial Discrepancies Among Studies Highlight a Significant Research Gap.","authors":"Nektarios Marios Liapis, Arriana Gkouvi, Theodora Simopoulou, Dimitrios P Bogdanos, Christina G Katsiari","doi":"10.31138/mjr.101125.har","DOIUrl":"10.31138/mjr.101125.har","url":null,"abstract":"<p><strong>Objective: </strong>Coeliac disease (CD) is an immune-mediated disorder that affects the small intestine. There are data showing that the prevalence of the disease is higher among patients with Systemic Lupus Erythematosus (SLE) compared to the general population. This narrative review investigates the correlation between these two entities.</p><p><strong>Methods: </strong>A thorough search was conducted in \"PubMed,\" \"Scopus,\" \"Cochrane Central Register of Controlled Trials (CENTRAL),\" \"clinicaltrials.gov,\" \"gray literature\" and \"Google Scholar\" from January 1, 1982, to July 1, 2025. A total of 2,991 articles were identified, of which 74 were reviewed in full text, and ultimately 15 were included in this review. Initially, the prevalence of biopsy verified CD among patients with SLE was examined. The prevalence of autoantibodies related to CD in patients with SLE was inspected subsequently.</p><p><strong>Results: </strong>The prevalence rate of both histologically confirmed CD and CD specific autoantibodies among patients with SLE exceeds the prevalence of CD found in the general population in most of the included studies, with noteworthy variability though.</p><p><strong>Conclusion: </strong>Based on the available data, patients with SLE appear to present greater risk of developing CD than the general population. However, the results between different studies vary significantly and routine screening for CD in patients with SLE is not currently recommended. The notable discrepancies among different studies underscore the necessity for further investigation to better understand the relationship between the two disorders.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"481-489"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The IL-23/-17 Axis in PsA: What Have We Learned in the Last 20 Years? PsA中的IL-23/-17轴:过去20年我们学到了什么?
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-09-01 DOI: 10.31138/mjr.140826.psv
Fotini Theodoridou, Olga Katsouli, George E Fragoulis
{"title":"The IL-23/-17 Axis in PsA: What Have We Learned in the Last 20 Years?","authors":"Fotini Theodoridou, Olga Katsouli, George E Fragoulis","doi":"10.31138/mjr.140826.psv","DOIUrl":"10.31138/mjr.140826.psv","url":null,"abstract":"","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"440-444"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
KIM-1: A Non-Invasive Marker for Kidney Injury and Treatment Efficacy in FMF. KIM-1: FMF患者肾损伤的无创标志物及治疗效果。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-06-28 eCollection Date: 2026-03-01 DOI: 10.31138/mjr.210625.are
Oktay Bagdatoglu, Esra Fırat Oguz, Ahmet Kor, Sukran Erten, Mıne Sebnem Karakan
{"title":"KIM-1: A Non-Invasive Marker for Kidney Injury and Treatment Efficacy in FMF.","authors":"Oktay Bagdatoglu, Esra Fırat Oguz, Ahmet Kor, Sukran Erten, Mıne Sebnem Karakan","doi":"10.31138/mjr.210625.are","DOIUrl":"10.31138/mjr.210625.are","url":null,"abstract":"<p><strong>Objective: </strong>Familial Mediterranean Fever (FMF) arises from mutations in the MEFV gene, which encodes the immune-regulatory protein pyrin. Early detection of FMF-associated kidney injury and identification of noninvasive biomarkers to monitor disease progression and treatment response are critical. This study aimed to measure serum Kidney Injury Molecule-1 (sKIM-1) levels in FMF patients, assess its potential as an early indicator of renal damage, and evaluate its utility in monitoring treatment efficacy.</p><p><strong>Methods: </strong>Fifty FMF patients and 36 healthy controls were enrolled. Serum KIM-1 levels were determined by ELISA. Clinical and laboratory data were extracted from patient records. The relationships between sKIM-1, urine protein/creatinine ratio (UPCR), and estimated glomerular filtration rate (eGFR) were analyzed. Subgroup analyses compared sKIM-1 levels in patients treated with anakinra or canakinumab.</p><p><strong>Results: </strong>Median sKIM-1 was significantly higher in FMF patients than controls [571.30 pg/mL (562.50-586.90) vs. 562.40 pg/mL (558.10-580.40), p=0.040]. No correlation was observed between sKIM-1 and UPCR (p=0.547) or eGFR (p=0.232) in the FMF group. Canakinumab-treated patients exhibited significantly lower sKIM-1 levels [561.10 pg/mL (556.10-567.00) vs. 575.4 pg/mL (564.00-591.20), p=0.036], whereas anakinra treatment showed no significant difference [561.20 (558.40-595.70), 572 (564.60-588), (p=0.430)].</p><p><strong>Conclusion: </strong>Elevated sKIM-1 in FMF patients and its reduction with canakinumab support KIM-1 as a noninvasive biomarker of renal involvement in FMF. These findings suggest KIM-1 may serve as a tool for monitoring disease activity and treatment response.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 1","pages":"179-185"},"PeriodicalIF":2.1,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13145288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147843692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterisation of Systemic Sclerosis in a Jordanian Cohort: Clinical Features, Diagnostic Patterns, and Health-Related Quality of Life. 约旦队列中系统性硬化症的特征:临床特征、诊断模式和与健康相关的生活质量
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-06-19 eCollection Date: 2026-09-01 DOI: 10.31138/mjr.140326.jcs
Fatima Alnaimat, Salameh Al-Halaseh, Jehad Feras AlSamhori, Suzan Hanandeh, Juman Shamaileh
{"title":"Characterisation of Systemic Sclerosis in a Jordanian Cohort: Clinical Features, Diagnostic Patterns, and Health-Related Quality of Life.","authors":"Fatima Alnaimat, Salameh Al-Halaseh, Jehad Feras AlSamhori, Suzan Hanandeh, Juman Shamaileh","doi":"10.31138/mjr.140326.jcs","DOIUrl":"10.31138/mjr.140326.jcs","url":null,"abstract":"<p><strong>Objective: </strong>To describe the clinical and demographic characteristics of systemic sclerosis (SSc) in a Jordanian cohort and assess patients' psychological well-being, quality of life, and functional disability.</p><p><strong>Methods: </strong>This cross-sectional study included all consecutive SSc patients seen at a single rheumatology clinic at Jordan University Hospital, Amman, between January and October 2023. Demographic and clinical data were collected via a structured questionnaire. Depression was assessed with the PHQ-9, and fibromyalgia screening with the FiRST questionnaire. Disease activity was measured using the modified Rodnan Skin Score (mRSS) and Scleroderma Health Assessment Questionnaire (SHAQ), disability with the Cochin Hand Function Scale (CHFS), and quality of life with the SF-36.</p><p><strong>Results: </strong>Fifty-seven patients were enrolled; mean age 50.7 ± 12.9 years, 53 (93.0%) female. Thirty-two (56.1%) had limited SSc, and 25 (43.9%) had diffuse disease. Raynaud's phenomenon was present in 49 (86.0%), digital ulcers in 28 (49.1%), and interstitial lung disease in 14 (24.6%). Pulmonary arterial hypertension was identified in 16 (28.1%). Microstomia was observed in 44 (77.2%) and gastroesophageal reflux in 21 (36.8%). Among 43 patients with DXA scans, 11 (19.3% of total cohort) had osteopenia and 7 (12.3%) osteoporosis.SF-36 physical and mental component scores were similarly impaired across subtypes. Only 1 patient (1.8%) met criteria for mild depression, and none met criteria for fibromyalgia.</p><p><strong>Conclusion: </strong>This is the first descriptive study of SSc in Jordan, highlighting a significant burden of organ involvement, comorbidities, and functional disability in this understudied population.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"562-574"},"PeriodicalIF":2.1,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Characteristics and Predictors of Primary Non-Response to Biologic Therapy in Rheumatoid Arthritis and Axial Spondyloarthritis. 类风湿关节炎和轴性脊柱性关节炎对生物治疗无反应的临床特征和预测因素。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-06-16 eCollection Date: 2026-09-01 DOI: 10.31138/mjr.061225.brn
Kübra Sinem Beke, Hüseyin Kaplan, Gizem Cengiz, İsa Cüce, Hasan Kara, Çalış Mustafa, Mehmet Kırnap
{"title":"Clinical Characteristics and Predictors of Primary Non-Response to Biologic Therapy in Rheumatoid Arthritis and Axial Spondyloarthritis.","authors":"Kübra Sinem Beke, Hüseyin Kaplan, Gizem Cengiz, İsa Cüce, Hasan Kara, Çalış Mustafa, Mehmet Kırnap","doi":"10.31138/mjr.061225.brn","DOIUrl":"10.31138/mjr.061225.brn","url":null,"abstract":"<p><strong>Aim: </strong>According to EULAR treat-to-target recommendations, biologic (bDMARD) and targeted synthetic (tsDMARD) therapies are recommended for patients with rheumatoid arthritis (RA) and axial spondyloarthritis (axSpA) who have an inadequate response to conventional treatment. However, some patients either fail to achieve the desired response (primary non-response) or lose efficacy over time (secondary non-response). This study aimed to determine the rates and predictors of primary non-response to bDMARD/tsDMARDs in RA and axSpA.</p><p><strong>Methods: </strong>This was a retrospective study including RA and axSpA patients who received bDMARD/tsDMARD therapy at X University between January 2017 and March 2025. Primary non-response was defined as no clinical improvement within six months of treatment initiation, and secondary non-response as loss of initial response within 6-12 months (early) or after 12 months (late). Statistical analyses were performed using SPSS 23.0.</p><p><strong>Results: </strong>A total of 495 patients (167 RA, 328 axSpA) were analysed. Primary non-response was higher in RA (45.1%) than axSpA (15.9%), as was secondary non-response (80.4% vs. 39.3%, p<0.001). In RA, longer disease duration was independently associated with primary non-response (OR 1.054, 95% CI 1.008- 1.102; p = 0.021). In axSpA patients, higher BMI was independently associated with primary non-response (OR 1.079; 95% CI 1.025-1.136; p = 0.004). No other demographic or clinical variables remained significantly associated with primary non-response after multivariable adjustment in either group.</p><p><strong>Conclusion: </strong>Longer disease duration in RA and higher BMI in axSpA were independent predictors of primary non-response, highlighting the importance of early treatment in RA and metabolic considerations in axSpA.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"533-541"},"PeriodicalIF":2.1,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic and Therapeutic Challenge: VEXAS Syndrome with Multisystem Inflammation and Myelodysplasia: A Case Report. 诊断和治疗的挑战:多系统炎症和骨髓增生的VEXAS综合征:1例报告。
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-06-16 eCollection Date: 2026-09-01 DOI: 10.31138/mjr.050326.ert
Bsher Almaalouli, Hannah Smith, Gabriel Kirsch, Gurjit Kaeley
{"title":"Diagnostic and Therapeutic Challenge: VEXAS Syndrome with Multisystem Inflammation and Myelodysplasia: A Case Report.","authors":"Bsher Almaalouli, Hannah Smith, Gabriel Kirsch, Gurjit Kaeley","doi":"10.31138/mjr.050326.ert","DOIUrl":"10.31138/mjr.050326.ert","url":null,"abstract":"<p><p>VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an adult-onset autoinflammatory disorder caused by somatic UBA1 mutations linking systemic inflammation with haematologic dysfunction. We report a 59-year-old man presenting with fatigue, fevers, and severe macrocytic anaemia (haemoglobin 8.1 g/dL, MCV >120 fL), mild thrombocytopenia, and markedly elevated inflammatory markers. Autoimmune and malignancy workup was negative. Bone marrow biopsy showed hypercellularity with multilineage dysplasia and cytoplasmic vacuolisation, and genetic testing confirmed a somatic UBA1 mutation. High-dose glucocorticoids led to rapid resolution of inflammatory manifestations and normalisation of inflammatory markers; however, cytopenias progressed despite erythropoiesis-stimulating agents and ruxolitinib, with haemoglobin declining to <7 g/dL, resulting in transfusion dependence. The patient is undergoing evaluation for allogeneic haematopoietic stem cell transplantation (HSCT). This case highlights VEXAS syndrome as an aggressive haematoinflammatory disorder with limited responsiveness to conventional and targeted therapies and emphasises early consideration of advanced strategies, including HSCT, in selected patients.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"622-626"},"PeriodicalIF":2.1,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Increased Risk of Gout among Patients with Trisomy 21: Insights from a Population-Based Study of over 30,000 Patients with Trisomy 21. 21三体患者痛风风险增加:来自30,000多名21三体患者的人群研究的见解
IF 2.1
Mediterranean Journal of Rheumatology Pub Date : 2026-06-16 eCollection Date: 2026-09-01 DOI: 10.31138/mjr.011225.alr
Ahmed Abdelmaksoud, Ann Igoe, Mahmoud A AbdAlnaeem, Eman A Toraih, Bryan A Roller, Kristin L Kaelber, David C Kaelber
{"title":"Increased Risk of Gout among Patients with Trisomy 21: Insights from a Population-Based Study of over 30,000 Patients with Trisomy 21.","authors":"Ahmed Abdelmaksoud, Ann Igoe, Mahmoud A AbdAlnaeem, Eman A Toraih, Bryan A Roller, Kristin L Kaelber, David C Kaelber","doi":"10.31138/mjr.011225.alr","DOIUrl":"10.31138/mjr.011225.alr","url":null,"abstract":"<p><strong>Background: </strong>Primary trisomy 21 is associated with an elevated incidence of conditions such as cardiac anomalies, hypothyroidism, type 1 diabetes mellitus, and auditory impairments. However, the potential association between trisomy 21 and gout remains insufficiently studied, with existing evidence largely limited to case reports. This study aimed to determine the prevalence of gout among individuals with trisomy 21 and compare it with those without trisomy 21 to evaluate a potential association and examine demographic factors influencing gout risk.</p><p><strong>Methods: </strong>This retrospective analysis utilised electronic health records from the US Collaborative Network within the TriNetX clinical research platform, representing over 100 million patients. We identified 30,171 individuals with trisomy 21 and compared them with 3,502,718 non-trisomy 21 controls using propensity score matching. Gout prevalence and relative risk (RR) with 95% confidence intervals (CI) were assessed between groups.</p><p><strong>Findings: </strong>Patients with trisomy 21 exhibited higher gout prevalence than controls (2.90% vs 1.05%, p < 0.0001). The relative risk of gout was 2.76 in individuals with trisomy 21 compared with controls (95% CI 2.43-3.14). Increased risk persisted across age, sex, and racial groups.</p><p><strong>Interpretation: </strong>These findings demonstrate an association between trisomy 21 and increased risk of gout. Further research is needed to understand the underlying mechanisms and inform targeted screening and management strategies in this population.</p>","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"37 3","pages":"590-597"},"PeriodicalIF":2.1,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13583205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148991637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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