ARP Rheumatology最新文献

Large-vessel vasculitis (LVV) is an inflammatory condition affecting large arteries, often leading to complications such as vessel occlusion or aneurysm. Nonbacterial thrombotic endocarditis (NBTE), although rare, is generally linked with hypercoagulable states and malignancies, characterized by sterile vegetations on undamaged cardiac valves. We present a unique case of a 61-year-old woman with coexisting LVV and NBTE, evidenced by echocardiographic findings of vegetations on the aortic and mitral valves. Her initial presentation included syncope, fatigue, weight loss, and intermittent claudication. Investigations revealed elevated inflammatory markers, arterial wall thickening suggestive of vasculitis, and valvular masses on echocardiography. She responded well to anticoagulation and immunosuppressive therapy, achieving clinical remission with mild residual symptoms at two years. This case underscores the unusual overlap between LVV and NBTE, highlighting the importance of vigilant diagnostic evaluation in patients with vasculitis who present with valvular abnormalities. Given the rarity of LVV with NBTE, further studies are essential to guide optimal management for similar complex presentations.

Introduction: Juvenile dermatomyositis (JDM) is a rare immune-mediated disease, characterised by proximal muscle weakness and typical skin rashes1. We present a patient with severe JDM, to highlight the importance of a timely diagnosis and early initiation of treatment.

Case description: A 9-year-old girl presented to the hospital due to asthenia, rash, generalized oedema, and inability to walk. At observation, the patient had dysphonia, dysphagia, proximal muscle weakness, petechial rash, skin ulcers, and anasarca. The levels of creatine kinase, aldolase, transaminases, and ferritin were elevated, and the NXP-2 antibody was detected. Prednisolone and methotrexate were started, followed by intravenous immunoglobulin. During the hospitalisation, the patient had an alveolar haemorrhage. Retinal vasculitis was also detected. Mycophenolate mofetil was added to the treatment. The patient had full resolution of myositis with progressive recovery of muscle strength, healed ulcers, and completely improved vision.

Discussion: This is an atypical presentation of JDM, without the typical skin lesions, but with several manifestations of severe vasculopathy, including retinopathy and alveolar haemorrhage. Early diagnosis and a multidisciplinary approach are crucial to improve prognosis.

Systemic sclerosis (SSc) frequently affects hands, impairing its function and impacting quality of life. The ABILHAND-SSc is a patient-reported outcome measure (PROM) specifically designed to assess manual ability in SSc. Previously, an European Portuguese version has been translated and culturally adapted, but its psychometric properties remain to be validated. Therefore, we aim to validate the European Portuguese version of the ABILHAND-SSc in patients with systemic sclerosis (SSc) using Rasch analysis and classical test theory. A cross-sectional validation study was conducted in a tertiary rheumatology centre, including 53 Portuguese-speaking adults fulfilling ACR/EULAR 2013 classification criteria for SSc or VEDOSS classification criteria. Patients completed the ABILHAND-SSc along with other PROMs: HAQ-DI, SHAQ, SF-36v2, EQ-5D-5L, and ScleroID. Rasch analysis assessed item fit, dimensionality, targeting, and reliability. Test-retest reliability was evaluated in a stable subsample. Construct validity was examined via hypothesis testing and correlation with external instruments. The ABILHAND-SSc showed excellent internal consistency and Rasch-based reliability. Item fit statistics were within acceptable ranges, and no floor or ceiling effects were observed. Rasch and PCA analyses supported unidimensionality. Test-retest reliability was good. ABILHAND-SSc scores showed good correlation with related PROMs. Patients with diffuse cutaneous SSc had significantly lower manual ability than those with VEDOSS. In conclusion, the European Portuguese version of the ABILHAND-SSc is a valid, reliable, and feasible tool for assessing manual ability in patients with SSc. Its use in clinical practice and research may support patient-centred assessment and monitoring of hand function. Further validation in longitudinal and multicentre studies is warranted.

Background: Regular physical activity is recommended for all patients with axial spondyloarthritis (axSpA), but measuring its frequency, duration and intensity can be challenging. The modified Short Questionnaire to ASsess Health-enhancing physical activity (mSQUASH) is a patient-reported outcome measurement designed to assess daily physical activity in patients with axSpA. This study aimed to translate the mSQUASH into European Portuguese and to perform field testing with cognitive debriefing interviews in patients with axSpA in Portugal.

Methods: The mSQUASH was translated into European Portuguese following the Beaton method. Two bilingual translators independently translated the questionnaire from English to European Portuguese, which was then harmonized into a consensus version. Two other translators back translated the synthesized version into English. Translation discrepancies were resolved within a scientific committee, resulting in a preliminary version. The preliminary version was field-tested through semi-structured one-to-one interviews with 10 patients with axSpA with a broad range of socio-demographic and clinical characteristics.

Results: The translation process was completed without major issues and minor disagreements were resolved in consensus meetings. During field testing, all participants found the questionnaire clear and appropriate. The median time to complete the questionnaire was 4 minutes and 15 seconds. Patient's feedback led to the correction of minor spelling errors and the addition of examples to the item "Home maintenance", which was misinterpreted as household activities by half of patients. The final version of the questionnaire, incorporating patient feedback, was approved by the scientific committee.

Conclusion: The European Portuguese version of the mSQUASH demonstrated good linguistic properties and performed well in a field test with axSpA patients. Further studies are needed to evaluate its psychometric properties.

Objectives: To assess patients', carers', nurses' and physicians' perspectives and experiences regarding patient education (PE) and support of Methotrexate (MTX) treatment in Europe.

Methods: An international team of researchers and clinicians, including rheumatology nurses, a pharmacist, a rheumatologist, and three patient representatives, developed a survey. Common and sample-specific questions were conceived for adult patients or carers (≥18 years) of children/young people with RMDs, nurses, and physicians working in rheumatology practice in Europe. The survey was available in English and, for patients/carers, in eight additional languages, disseminated between May 2022 and May 2023. Ethics committee approval was obtained (116_CEIPC/2022_IPC).

Results: A total of 1526 patients, 145 carers, 354 nurses, and 291 physicians (96% rheumatologists), from 26 European countries participated. Only 28% of patients had a PE with nurse when starting oral MTX, with a slight increase to 42% for the subcutaneous form, with variations across Europe (Northern=69%, Eastern=52%, Western=50%, Southern=23%). Patients' perspectives align with physicians, whereas nurses reported higher access rates. Around 77% of patients had/have concerns about side effects, which were discussed with health professionals in 69% of the cases, though 46% of these concerns remained unresolved. The priority ranking of topics to be addressed in PE was similar overall for the three subgroups.

Conclusion: PE and support regarding MTX are unequal across Europe and can be improved by offering opportunities to clarify concerns through more access to nursing consultations. There is an overall agreement between patients and clinicians regarding key areas of education, although a tailored approach is required.

Background: In the context of the COVID-19 pandemic, understanding the influence of pre-existing Interstitial Lung Disease (ILD) on patient outcomes is crucial. This study aimed to compare the impact of COVID-19 on patients with Idiopathic Interstitial Pneumonia (IIP) versus Connective Tissue Disease-related ILD (CTD-ILD) in terms of mortality, length of hospital stay (LOS) and Intensive Care Unit (ICU) admission.

Methods: The National Inpatient Sample (NIS) database for 2019-2020 identified adult patients hospitalized with COVID-19 and either IP or CTD-ILD. Patient demographics, comorbidities, and outcomes were analyzed.

Results: Among 1,010,030 COVID-19 hospitalizations, 11,030 had ILD, with 1,105 associated with CTD. Although both IL and CTD-ILD groups had higher mortality rates than non-ILD patients, there was no significant difference in mortality between CTD-ILD and ILI groups. The odds ratio for mortality was 0.78 (95% CI 0.50-1.2, p = 0.3) for CTD-ILD compared to ILP patients and 1.54 (95% CI 1.03-2.31, p = 0.03) for CTD-ILD compared to non-ILD patients.

Conclusion: This study underscores the importance of considering ILD subtypes in predicting COVID-19 outcomes. Despite demographic and comorbidity differences, mortality rates were comparable between CTD-ILD and IIP patients. Further research is needed to explore underlying mechanisms contributing to mortality in different ILD subtypes and the impact of specific rheumatological diseases and treatments on COVID-19 outcomes.

Introduction: The efficacy and safety of tocilizumab in patients with polymyalgia rheumatica (PMR) is not well established.

Methods: We systematically searched PubMed, Cochrane, and Scopus to identify randomized controlled trials (RCTs) evaluating the efficacy and safety of tocilizumab compared with placebo in patients with PMR. The endpoints of interest were glucocorticoid-free remission at week 24, cumulative prednisolone dose at week 24, and adverse effects like risk of infection, gastrointestinal disorders, musculoskeletal and connective tissue disorders. We analyzed binary outcomes using risk ratios (RR) and continuous outcomes using mean difference (MD) with 95% confidence intervals (CI). Statistical analysis was performed using Review Manager 8.13 (Cochrane Collaboration).

Results: Three RCTs with 188 patients were included, of whom 99 (53%) received tocilizumab and 89 (47%) received a placebo. The three RCTs varied significantly regarding patient populations and clinical settings: Bonelli et al. (2022) studied patients with early PMR receiving short-term glucocorticoids (GCs), Devauchelle-Pensec et al. (2022) included patients with GC-dependent PMR and a prespecified GC tapering strategy, and Spiera et al. (2021) analyzed patients with PMR associated with giant cell arteritis (GCA). Tocilizumab was associated with higher glucocorticoid-free remission at week 24 (RR 2.64; 95% CI 1.38 to 5.06; p= 0.003) and a lower cumulative prednisolone dose at week 24 (MD -2.52mg; CI -4.00 to -1.03; p= 0.0009) compared to placebo. However, there were no significant differences between the groups regarding safety outcomes, including the risk of infections (RR 1.19; 95% CI 0.92 to 1.52, p = 0.18), gastrointestinal disorders (RR 1.17; 95% CI 0.72 to 1.89, p = 0.52), and musculoskeletal and connective tissue disorders (RR 1.13; 95% CI 0.53 to 2.42, p = 0.75).

Conclusion: Our findings indicate that tocilizumab significantly improved glucocorticoid-free remission rates and reduced the cumulative prednisolone dose at week 24. Notably, safety outcomes between tocilizumab and placebo groups were comparable. These findings support the efficacy of tocilizumab in treatment of PMR.

Background: Behçet's disease (BD) is a multisystem inflammatory disorder primarily affecting mucocutaneous tissues. Central nervous system (CNS) involvement, Neuro-BD (NBD), is a potentially severe manifestation of BD with a variable prevalence (1-59%).

Aims: We aimed to characterize BD patients with CNS involvement and to identify predictors of this clinical subtype.

Methods: We performed a single-centre observational retrospective study using data from patients fulfilling the 2013 International Criteria for BD registered at the Rheumatic Diseases Portuguese Registry (Reuma.pt) between October 2014 and May 2023. NBD was defined according to International Consensus Recommendation Criteria for NBD diagnosis. Demographic, clinical and treatment data were collected.

Results: We included 157 patients with BD, 116 (74%) of them were females and 127 (81%) Caucasian with a mean±SD age at diagnosis of 32.0±12.2 years and the median (IQR) follow-up was 11.0 (11.8) years. NBD was diagnosed in 24 (15%) patients, with two (1%) cases identified at disease onset. The mean age at NBD diagnosis was 31.6±8.7 years, occurring 4.7 (1.0) years after BD onset. Among NBD patients, 15 (63%) had parenchymal, eight (33%) non-parenchymal and one (4%) mixed CNS involvement. Compared to patients without NBD, those with NBD were more likely to be non-Caucasian (27% vs 17%, p=0.026), have genital ulcers at disease onset (68% vs 34%, p=0.002) and present with ocular manifestations during the disease course (58% vs 35%, p=0.028). NBD patients more frequently received systemic glucocorticoids (100% vs 78%, p=0.008) and conventional synthetic disease-modifying anti-rheumatic drugs (86% vs 62%, p=0.035), particularly cyclophosphamide (48% vs 1%, p<0.001). Mortality was also significantly higher among NBD (13% vs 2%, p=0.026). On multivariable analysis, genital ulcers at presentation (OR 4.50, 1.68-12.06) and ocular involvement during the disease course (OR 2.69, 1.01-6.76) were independent predictors of CNS involvement.

Conclusion: In summary, our cohort showed a 15% prevalence of CNS involvement, with parenchymal affection being the predominant form. Genital ulcers at onset and ocular manifestations emerged as independent predictors of NBD, serving as potential clinical markers for identifying high-risk patients. The high mortality rate observed among these patients underscores the severity of NBD and the critical need for prompt recognition.