Pub Date : 2026-01-01Epub Date: 2025-07-24DOI: 10.1016/j.jbspin.2025.105949
Catarina Abreu , Vanessa Fraga , Sara Dias Rodrigues , Laura Gago , Susana Almeida , Catarina Dantas Soares , Maria Pontes Ferreira , Carlos Marques-Gomes , Mariana Diz-Lopes , Miguel Bernardes , João Menezes , Carolina Ochôa Matos , Elsa Vieira-Sousa , Tiago Beirão , João Oliveira , Mariana Luís , Rodrigo Rei , Rafaela Nicolau , Cláudia Pinto Oliveira , Carolina Vilafanha , Maria José Santos
Objectives
To estimate the proportion and identify predictors of difficult-to-treat (D2T) psoriatic arthritis (PsA).
Methods
A multicentre observational retrospective study was conducted with patients registered in the Rheumatic Diseases Portuguese Registry (Reuma.pt). Two different definitions were used to classify D2T PsA. The first criterion (treatment failure) is defined by the failure of ≥ 2 b/tsDMARDs (first definition) or ≥ 3 b/tsDMARDs (second definition), both with different MoAs; and the second criterion is defined by the presence of signs suggestive of active/progressive disease.
Results
In total, 1873 patients were included, of whom 3.7% (n = 70) were classified as having D2T PsA according to the first definition and 0.9% (n = 17) as having D2T PsA according to the second definition. D2T PsA was associated with a younger age at symptom onset (37.5 ± 11.0 vs. 41.4 ± 12.8; P < 0.01) and at diagnosis (40.7 ± 10.5 vs. 44.7 ± 12.3; P < 0.01), polyarticular phenotype (77.6% vs. 53.6%; P < 0.001), depression (10.9% vs. 5%; P < 0.05), and enthesitis (47.1% vs. 33.5%; P < 0.05) and lower body mass index (26.5[6.1] vs. 27.7[6.1]; P < 0.01). D2T PsA patients presented with higher tender (13.4[14.5] vs. 6[8]; P < 0.001) and swollen joint counts (9[9] vs. 4[6]; P < 0.001) and higher DAPSA (38.2[31.6] vs. 25.4[15.6]; P < 0.001) at baseline. Polyarticular disease (OR: 3.09), increased baseline swollen joint count (OR: 1.12), and treatment duration on the first b/tsDMARDs (P < 0.01) were predictors of D2T PsA.
Conclusion
D2T PsA proportions varied between 0.9% and 3.7%. D2T PsA patients had higher disease activity scores before the initiation of their first b/tsDMARDs and higher rates of treatment discontinuation.
{"title":"Understanding difficult-to-treat psoriatic arthritis: Data from the Rheumatic Diseases Portuguese Registry","authors":"Catarina Abreu , Vanessa Fraga , Sara Dias Rodrigues , Laura Gago , Susana Almeida , Catarina Dantas Soares , Maria Pontes Ferreira , Carlos Marques-Gomes , Mariana Diz-Lopes , Miguel Bernardes , João Menezes , Carolina Ochôa Matos , Elsa Vieira-Sousa , Tiago Beirão , João Oliveira , Mariana Luís , Rodrigo Rei , Rafaela Nicolau , Cláudia Pinto Oliveira , Carolina Vilafanha , Maria José Santos","doi":"10.1016/j.jbspin.2025.105949","DOIUrl":"10.1016/j.jbspin.2025.105949","url":null,"abstract":"<div><h3>Objectives</h3><div>To estimate the proportion and identify predictors of difficult-to-treat (D2T) psoriatic arthritis (PsA).</div></div><div><h3>Methods</h3><div>A multicentre observational retrospective study was conducted with patients registered in the Rheumatic Diseases Portuguese Registry (Reuma.pt). Two different definitions were used to classify D2T PsA. The first criterion (treatment failure) is defined by the failure of<!--> <!-->≥<!--> <!-->2 b/tsDMARDs (first definition) or<!--> <!-->≥<!--> <!-->3 b/tsDMARDs (second definition), both with different MoAs; and the second criterion is defined by the presence of signs suggestive of active/progressive disease.</div></div><div><h3>Results</h3><div>In total, 1873 patients were included, of whom 3.7% (<em>n</em> <!-->=<!--> <!-->70) were classified as having D2T PsA according to the first definition and 0.9% (<em>n</em> <!-->=<!--> <!-->17) as having D2T PsA according to the second definition. D2T PsA was associated with a younger age at symptom onset (37.5<!--> <!-->±<!--> <!-->11.0 vs. 41.4<!--> <!-->±<!--> <!-->12.8; <em>P</em> <!--><<!--> <!-->0.01) and at diagnosis (40.7<!--> <!-->±<!--> <!-->10.5 vs. 44.7<!--> <!-->±<!--> <!-->12.3; <em>P</em> <!--><<!--> <!-->0.01), polyarticular phenotype (77.6% vs. 53.6%; <em>P</em> <!--><<!--> <!-->0.001), depression (10.9% vs. 5%; <em>P</em> <!--><<!--> <!-->0.05), and enthesitis (47.1% vs. 33.5%; <em>P</em> <!--><<!--> <!-->0.05) and lower body mass index (26.5[6.1] vs. 27.7[6.1]; <em>P</em> <!--><<!--> <!-->0.01). D2T PsA patients presented with higher tender (13.4[14.5] vs. 6[8]; <em>P</em> <!--><<!--> <!-->0.001) and swollen joint counts (9[9] vs. 4[6]; <em>P</em> <!--><<!--> <!-->0.001) and higher DAPSA (38.2[31.6] vs. 25.4[15.6]; <em>P</em> <!--><<!--> <!-->0.001) at baseline. Polyarticular disease (OR: 3.09), increased baseline swollen joint count (OR: 1.12), and treatment duration on the first b/tsDMARDs (<em>P</em> <!--><<!--> <!-->0.01) were predictors of D2T PsA.</div></div><div><h3>Conclusion</h3><div>D2T PsA proportions varied between 0.9% and 3.7%. D2T PsA patients had higher disease activity scores before the initiation of their first b/tsDMARDs and higher rates of treatment discontinuation.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105949"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719176","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}
Pub Date : 2026-01-01Epub Date: 2025-05-20DOI: 10.1016/j.jbspin.2025.105924
Mathilde Plantié , Guillermo Carvajal Alegria
{"title":"Future options in the treatment of giant cell arteritis","authors":"Mathilde Plantié , Guillermo Carvajal Alegria","doi":"10.1016/j.jbspin.2025.105924","DOIUrl":"10.1016/j.jbspin.2025.105924","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105924"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129466","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}
Pub Date : 2026-01-01Epub Date: 2025-11-04DOI: 10.1016/j.jbspin.2025.105997
Songhe Chen , Ye Chen , Ying Zhang , Kai Chen
{"title":"Comment on “Correlation of Naples prognostic score with the risk of all-cause and cardiovascular mortality in individuals with rheumatoid arthritis: A cross-sectional analysis of the NHANES 2001-2018” by Zhou et al. Joint Bone Spine. 2025;92:105928","authors":"Songhe Chen , Ye Chen , Ying Zhang , Kai Chen","doi":"10.1016/j.jbspin.2025.105997","DOIUrl":"10.1016/j.jbspin.2025.105997","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105997"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460351","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}
Pub Date : 2026-01-01Epub Date: 2025-09-16DOI: 10.1016/j.jbspin.2025.105969
Yunjung Choi
{"title":"Unilateral forearm lymphoedema as a rare extra-articular manifestation of chronic tophaceous gout","authors":"Yunjung Choi","doi":"10.1016/j.jbspin.2025.105969","DOIUrl":"10.1016/j.jbspin.2025.105969","url":null,"abstract":"","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105969"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145088448","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}
To determine the prevalence of neuropathic-like pain (NP) in people with hand osteoarthritis (HOA), and to compare the demographic and clinical characteristics of HOA patients who experience NP with those who do not.
Methods
A systematic literature review was conducted, using the PubMed, Embase, Web of Science and the Cochrane Library databases up to 12 February 2025. NP prevalence was calculated using meta-proportion analysis. The inverse of variance method was used to express differences in characteristics between HOA patients with or without NP as standardized mean differences.
Results
Eight studies comprising a total of 1084 patients were included, of whom 409 had HOA with NP, corresponding to a prevalence of 42.2% (95% CI: 31.8–53.0). HOA patients with NP were younger and experienced significantly greater pain intensity (58.5 ± 18.5 versus 48.8 ± 19.3 mm; P < 0.001), as well as having a higher FIHOA score, though this did not reach statistical significance (12.9 ± 6.9 versus 11.9 ± 7.2; P = 0.19). No differences were found in sex, BMI, CRP levels or the proportion of erosive disease between patients with and without NP.
Conclusion
In order to better determine the pain phenotype, it is crucial to search for a neuropathic component in HOA patients in routine care. These patients often experience neuropathic pain, which may indicate a more painful and disabling condition involving specific neurophysiological abnormalities. This could influence the approach to personalised pain management.
目的：确定手骨关节炎（HOA）患者神经性样痛（NP）的患病率，并比较有神经性样痛和无神经性样痛的HOA患者的人口学和临床特征。方法：使用PubMed， Embase， Web of Science和Cochrane Library数据库进行系统的文献综述，截至2025年2月12日。NP患病率采用元比例分析计算。方差倒数法将有NP或无NP的HOA患者之间的特征差异表示为标准化平均差异。结果：8项研究共纳入1,084例患者，其中409例为HOA合并NP，患病率为42.2% （95% CI:31.8-53.0）。伴有NP的HOA患者更年轻，疼痛强度明显高于NP患者（58.5±18.5 mm vs 48.8±19.3 mm）。结论：为了更好地确定疼痛表型，在常规护理中寻找HOA患者的神经病变成分至关重要。这些患者经常经历神经性疼痛，这可能表明一种更痛苦和致残的状况，涉及特定的神经生理异常。这可能会影响个性化疼痛管理的方法。
{"title":"Prevalence of neuropathic-like pain phenotype in people with hand osteoarthritis: A systematic literature review and meta-analysis","authors":"Sylvain Mathieu , Camille Fauchon , Alice Courties , Jérémie Sellam","doi":"10.1016/j.jbspin.2025.106012","DOIUrl":"10.1016/j.jbspin.2025.106012","url":null,"abstract":"<div><h3>Objective</h3><div>To determine the prevalence of neuropathic-like pain (NP) in people with hand osteoarthritis (HOA), and to compare the demographic and clinical characteristics of HOA patients who experience NP with those who do not.</div></div><div><h3>Methods</h3><div>A systematic literature review was conducted, using the PubMed, Embase, Web of Science and the Cochrane Library databases up to 12 February 2025. NP prevalence was calculated using meta-proportion analysis. The inverse of variance method was used to express differences in characteristics between HOA patients with or without NP as standardized mean differences.</div></div><div><h3>Results</h3><div>Eight studies comprising a total of 1084 patients were included, of whom 409 had HOA with NP, corresponding to a prevalence of 42.2% (95% CI: 31.8–53.0). HOA patients with NP were younger and experienced significantly greater pain intensity (58.5<!--> <!-->±<!--> <!-->18.5 versus 48.8<!--> <!-->±<!--> <!-->19.3<!--> <!-->mm; <em>P</em> <!--><<!--> <!-->0.001), as well as having a higher FIHOA score, though this did not reach statistical significance (12.9<!--> <!-->±<!--> <!-->6.9 versus 11.9<!--> <!-->±<!--> <!-->7.2; <em>P</em> <!-->=<!--> <!-->0.19). No differences were found in sex, BMI, CRP levels or the proportion of erosive disease between patients with and without NP.</div></div><div><h3>Conclusion</h3><div>In order to better determine the pain phenotype, it is crucial to search for a neuropathic component in HOA patients in routine care. These patients often experience neuropathic pain, which may indicate a more painful and disabling condition involving specific neurophysiological abnormalities. This could influence the approach to personalised pain management.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 106012"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145643109","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}
Pub Date : 2026-01-01Epub Date: 2025-07-23DOI: 10.1016/j.jbspin.2025.105951
Xuepeng Jin , Yutong Yang , Xue Wang , Chunxiu Wang , Yi Zhao
Objectives
This systematic review and meta-analysis aimed to update the global prevalence of stroke and transient ischemic attack (TIA) in Takayasu arteritis (TA) patients, assess subgroup variations, and identify modifiable risk factors.
Methods
Following PRISMA and MOOSE guidelines, eight databases (PubMed, EMBASE, Web of Science, Medline, and four Chinese databases) were systematically searched up to January 2025. A random-effects model was used to pool prevalence estimates, with subgroup analyses and risk factor evaluations. Heterogeneity was quantified using the I2 statistic, and publication bias was assessed via funnel plots and Egger's test.
Results
Thirty-four observational cohort studies (5112 patients involved) were included. The pooled prevalence of stroke/TIA in TA patients was 10.7% (95% CI: 8.4%–13.6%), with high heterogeneity (I2 = 90.4%). Subgroup analyses revealed higher prevalence of stroke/TIA in males than in females (20% vs. 11%), and in European populations (13%). Ischemic stroke predominated (7%, I2 = 80.7%), while hemorrhagic stroke was rare (2%, I2 = 0%). Smoking was the sole significant modifiable risk factor (RR = 1.64, 95% CI: 1.13–2.38). Stroke accounted for 21.2% of all TA-related deaths.
Conclusions
TA patients face a high burden of stroke/TIA, with marked heterogeneity driven by population and methodological differences. Males and Europeans have higher prevalence of stroke/TIA. Smoking is the only modifiable risk factor in TA patients with stroke/TIA.
目的：本系统综述和荟萃分析旨在更新Takayasu动脉炎（TA）患者卒中和短暂性脑缺血发作（TIA）的全球患病率，评估亚组差异，并确定可改变的危险因素。方法：按照PRISMA和MOOSE指南，系统检索截至2025年1月的8个数据库（PubMed、EMBASE、Web of Science、Medline和4个中文数据库）。随机效应模型用于汇总患病率估计，并进行亚组分析和风险因素评估。异质性采用I²统计量进行量化，发表偏倚采用漏斗图和Egger检验进行评估。结果：纳入34项观察性队列研究（5112例患者）。TA患者卒中/TIA的总患病率为10.7% (95% CI: 8.4%-13.6%)，异质性较高（I²=90.4%）。亚组分析显示，男性卒中/TIA患病率高于女性（20%对11%），在欧洲人群中（13%）。缺血性脑卒中居多（7%,I²=80.7%），出血性脑卒中少见（2%,I²=0%）。吸烟是唯一显著的可改变危险因素（RR=1.64, 95% CI: 1.13-2.38）。中风占所有ta相关死亡的21.2%。结论：TA患者面临较高的卒中/TIA负担，且由于人群和方法差异而具有明显的异质性。男性和欧洲人卒中/TIA患病率较高。吸烟是TA合并卒中/TIA患者唯一可改变的危险因素。
{"title":"An update on stroke and transient ischemic attack in Takayasu arteritis: A systematic review and meta-analysis","authors":"Xuepeng Jin , Yutong Yang , Xue Wang , Chunxiu Wang , Yi Zhao","doi":"10.1016/j.jbspin.2025.105951","DOIUrl":"10.1016/j.jbspin.2025.105951","url":null,"abstract":"<div><h3>Objectives</h3><div>This systematic review and meta-analysis aimed to update the global prevalence of stroke and transient ischemic attack (TIA) in Takayasu arteritis (TA) patients, assess subgroup variations, and identify modifiable risk factors.</div></div><div><h3>Methods</h3><div>Following PRISMA and MOOSE guidelines, eight databases (PubMed, EMBASE, Web of Science, Medline, and four Chinese databases) were systematically searched up to January 2025. A random-effects model was used to pool prevalence estimates, with subgroup analyses and risk factor evaluations. Heterogeneity was quantified using the I<sup>2</sup> statistic, and publication bias was assessed via funnel plots and Egger's test.</div></div><div><h3>Results</h3><div>Thirty-four observational cohort studies (5112 patients involved) were included. The pooled prevalence of stroke/TIA in TA patients was 10.7% (95% CI: 8.4%–13.6%), with high heterogeneity (I<sup>2</sup> <!-->=<!--> <!-->90.4%). Subgroup analyses revealed higher prevalence of stroke/TIA in males than in females (20% vs. 11%), and in European populations (13%). Ischemic stroke predominated (7%, I<sup>2</sup> <!-->=<!--> <!-->80.7%), while hemorrhagic stroke was rare (2%, I<sup>2</sup> <!-->=<!--> <!-->0%). Smoking was the sole significant modifiable risk factor (RR<!--> <!-->=<!--> <!-->1.64, 95% CI: 1.13–2.38). Stroke accounted for 21.2% of all TA-related deaths.</div></div><div><h3>Conclusions</h3><div>TA patients face a high burden of stroke/TIA, with marked heterogeneity driven by population and methodological differences. Males and Europeans have higher prevalence of stroke/TIA. Smoking is the only modifiable risk factor in TA patients with stroke/TIA.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105951"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719071","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}
Pub Date : 2026-01-01Epub Date: 2025-09-27DOI: 10.1016/j.jbspin.2025.105982
Caroline Robert , Léa Perrot , Alexia Zelus , Emmanuel Letavernier , Guillaume Courbon , Pierre Lafforgue , Thomas Robert , Nathalie Balandraud
Calcium pyrophosphate deposition (CPPD) disease is a common crystal arthropathy in the elderly, but its early-onset forms are rare. While secondary hypomagnesemia is a recognized contributor to CCPD, inherited renal magnesium-wasting syndromes remain underdiagnosed. Here we performed a whole exome sequencing (ES) in order to detect pathogenic variants in a 58-year-old male patient with early and severe, refractory CPPD disease. We conducted a comprehensive clinical, biochemical, radiological, and genetic evaluation of the patient. ES was performed and filtered for rare, likely pathogenic variants following ACMG/AMP criteria. Cascade genetic testing was performed in family members. Hypomagnesemia with inappropriate renal magnesium loss was found. Radiographs revealed diffuse chondrocalcinosis ES identified a novel heterozygous Cyclin and CBS Domain Divalent Metal Cation Transport Mediator (CNNM2) missense variant (c.319G>C; p.Gly107Arg), absent from population databases and predicted deleterious (REVEL 0.82). This variant affects a highly conserved residue in the extracellular β-barrel domain. Family screening revealed two additional carriers with isolated hypomagnesemia, consistent with autosomal dominant inheritance. CNNM2 encodes a basolateral magnesium transporter in the tubule. This is the first reported case of CPPD linked to a CNNM2 variant through persistent hypomagnesemia. Its variants have been linked to renal hypomagnesemia, neurological comorbidities, but no link to CPPD has been described. This expands the phenotypic spectrum of CNNM2-related disorders and highlights the relevance of genetic testing in CPPD cases with unexplained hypomagnesemia. Building on published functional studies and domain-level protein modeling, we propose a simplified three-tier classification scheme that organizes CNNM2 variants into clinically meaningful categories.
{"title":"Novel CNNM2 variant causing hypomagnesemia and early-onset calcium pyrophosphate deposition disease: A case report","authors":"Caroline Robert , Léa Perrot , Alexia Zelus , Emmanuel Letavernier , Guillaume Courbon , Pierre Lafforgue , Thomas Robert , Nathalie Balandraud","doi":"10.1016/j.jbspin.2025.105982","DOIUrl":"10.1016/j.jbspin.2025.105982","url":null,"abstract":"<div><div>Calcium pyrophosphate deposition (CPPD) disease is a common crystal arthropathy in the elderly, but its early-onset forms are rare. While secondary hypomagnesemia is a recognized contributor to CCPD, inherited renal magnesium-wasting syndromes remain underdiagnosed. Here we performed a whole exome sequencing (ES) in order to detect pathogenic variants in a 58-year-old male patient with early and severe, refractory CPPD disease. We conducted a comprehensive clinical, biochemical, radiological, and genetic evaluation of the patient. ES was performed and filtered for rare, likely pathogenic variants following ACMG/AMP criteria. Cascade genetic testing was performed in family members. Hypomagnesemia with inappropriate renal magnesium loss was found. Radiographs revealed diffuse chondrocalcinosis ES identified a novel heterozygous Cyclin and CBS Domain Divalent Metal Cation Transport Mediator (CNNM2) missense variant (c.319G>C; p.Gly107Arg), absent from population databases and predicted deleterious (REVEL 0.82). This variant affects a highly conserved residue in the extracellular β-barrel domain. Family screening revealed two additional carriers with isolated hypomagnesemia, consistent with autosomal dominant inheritance. CNNM2 encodes a basolateral magnesium transporter in the tubule. This is the first reported case of CPPD linked to a CNNM2 variant through persistent hypomagnesemia. Its variants have been linked to renal hypomagnesemia, neurological comorbidities, but no link to CPPD has been described. This expands the phenotypic spectrum of CNNM2-related disorders and highlights the relevance of genetic testing in CPPD cases with unexplained hypomagnesemia. Building on published functional studies and domain-level protein modeling, we propose a simplified three-tier classification scheme that organizes CNNM2 variants into clinically meaningful categories.</div></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":"93 1","pages":"Article 105982"},"PeriodicalIF":4.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193892","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}
Pub Date : 2026-01-01Epub Date: 2025-09-27DOI: 10.1016/j.jbspin.2025.105981
Jacob Corum Williams , Helena Marzo-Ortega
Spondyloarthritis (SpA) encompasses a group of immune-mediated, inflammatory diseases, most notably axial spondyloarthritis (axSpA) and psoriatic arthritis (PsA). As the global population ages, so does the population living with these conditions. Age-related immune changes — including chronic low-grade inflammation and the accumulation of senescent T cells — are increasingly recognised as contributors to disease pathophysiology in these individuals. People over the age of 50 often present with a distinct clinical phenotype, including more peripheral arthritis, dactylitis, and psoriasis. A subset may also present with pitting oedema and polymyalgic symptoms, sometimes associated with underlying malignancy. Imaging in older adults can be challenging, as structural and inflammatory changes such as bone marrow oedema and erosions may be seen in asymptomatic individuals without SpA, increasing the risk of misdiagnosis. Age-related comorbidities — including frailty, sarcopenia, falls, fractures, and dementia — occur more frequently in older individuals with SpA, further complicating diagnosis and treatment. Despite this, therapeutic responses appear similar to those in younger populations, particularly with tumour necrosis factor inhibitors (TNFi). Nonetheless, clinicians must be cautious of increased risks of serious infection and heart failure in this age group. Important questions remain about the long-term safety of disease-modifying antirheumatic drugs (DMARDs) in older patients and the efficacy and tolerability of newer biologic or synthetic agents targeting interleukin-17 (IL-17), IL-12/23 and Janus Kinases (JAK) pathways. A better understanding of SpA in older age is critical to delivering effective, individualised care to this growing population.
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