Rheumatology International最新文献

Several studies reported that Familial Mediterranean Fever (FMF) diagnosis may be missed or delayed even in countries with a high FMF prevalence. Our aim was to study on a large cohort of European FMF patients the frequency and associated factors of diagnosis delay. Clinical data were extracted from the Juvenile Inflammatory Rheumatism (JIR)-cohort. All FMF patients fulfilled Livneh Criteria and had been sequenced for MEFV exon 10. FMF-diagnostic delay (d-FMF) was defined as the duration between the onset of the symptoms and the diagnosis of more than 10 years. 960 FMF patients were enrolled: delayed diagnosis (d-FMF) was noted in 200 patients (20%). d-FMF patients were significantly older compared to non d-FMF with a median age of 46.4 years old vs. 15.5 (p < 0.0001). Women displayed more d-FMF compared to men (56 vs. 47%, p = 0.03). Clinical presentation during attacks was not statistically significant except for erysipelas-like erythema, which was higher among d-FMF patients (33 vs. 22%, p = 0.0003). The presence of one or two pathogenic MEFV mutation was not different between patients. Compared to other FMF, d-FMF patients displayed significantly more AA amyloidosis (10 vs. 2.6%, p < 0.0001) and received more biotherapy (18 vs. 3.8%, p < 0.0001). Twenty percent of FMF patients had a diagnostic delay >10 years, including more women. The differential diagnosis of abdominal attacks with menstrual pain may be an explanation, and erysipelas-like erythema may not be recognized as FMF by all practitioners.

This study aimed to assess COVID-19 vaccination-related AEs in patients with rheumatoid arthritis (RA), in the COVID-19 Vaccination in Autoimmune Diseases (COVAD)-2 study. An online international cross-sectional survey captured self-reported data on COVID-19 vaccination-related adverse events (AEs) in people with RA, autoimmune diseases (AIDs; rheumatic [r] and non-rheumatic [nr]) and healthy controls (HCs). The survey was circulated by the COVAD study group, comprising 157 collaborators across 106 countries, from February to June 2022. Delayed AEs among RA were compared with other rAIDs, nrAIDs and HCs using multivariable binary regression. A total of 7203 participants were included (1423 [19.7%] RA, 2620 [36.4%] rAIDs, 426 [5.9%] nrAIDs, 2734 [38%] HCs), with 75% female. Compared to HCs, individuals with RA reported higher overall major AEs [OR 1.3 (1.0-1.7)], and an increased number of several minor AEs. Compared to nrAIDs, people with RA had several increased reported minor AEs including myalgia and joint pain. People with active RA had increased major AEs [OR 1.8 (1.1-3.0)] and hospitalisation [OR 4.1 (1.3 - 13.3)] compared to inactive RA. RA patients without autoimmune comorbidities had significantly fewer major and minor AEs than those with other rAIDs. A decreased incidence of hospitalisation was seen in patients taking methotrexate or TNF inhibitors compared to patients not taking these medications. COVID-19 vaccination is associated with minimal to no risks of delayed AEs in patients with RA compared to HCs, and fewer compared to other rAIDs. Active RA and presence of co-existing rAIDs were associated with an increased risk of delayed AEs.

Inflammatory bowel disease (IBD), including ulcerative colitis and Crohn's disease (CD), not only causes significant intestinal inflammation but also leads to extra-intestinal manifestations such as spondyloarthritis (SpA). Although the efficacy of tumor necrosis factor (TNF) inhibitors has been reported for IBD-related SpA, some cases still encounter treatment failure, highlighting the need for novel therapeutic alternatives. Recently, Janus kinase inhibitors have demonstrated their efficacy in IBD and SpA, yet their impact on CD-related SpA remains unexplored. Here we present the first two cases of CD-related peripheral SpA successfully treated with upadacitinib. Additionally, our literature review identified a reported case of CD-related peripheral SpA treated with tofacitinib. All cases achieved clinical remission of both CD and peripheral SpA with Janus kinase inhibitors, and no adverse events or disease relapses were reported during the observation period. Our cases and literature review highlight the promising potential of Janus kinase inhibitors as a novel treatment not only for intestinal inflammation of CD, but also for CD-related peripheral SpA.

Virtual patients (VPs) are increasingly used in medical education to train clinical reasoning (CR) skills. However, optimal VP design for enhancing interactivity and authenticity remains unclear. Novel interactive modalities, such as large language model (LLM)-enhanced social robotic VPs might increase interactivity and authenticity in CR skill practice. To evaluate medical students' perceptions of CR training using an LLM-enhanced social robotic VP platform compared with a conventional computer-based VP platform. A qualitative study involved 23 third-year medical students from Karolinska Institutet, who completed VP cases on an LLM-enhanced social robotic platform and a computer-based semi-linear platform. In-depth interviews assessed students' self-perceived acquirement of CR skills using the two platforms. Thematic analysis was employed to identify themes and sub-themes. Three main themes were identified: authenticity, VP application, and strengths and limitations. Students found the social robotic platform more authentic and engaging. It enabled highly interactive communication and expressed emotions, collectively offering a realistic experience. It facilitated active learning, hypothesis generation, and adaptive thinking. Limitations included lack of physical examination options and, occasionally, mechanical dialogue. The LLM-enhanced social robotic VP platform offers a more authentic and interactive learning experience compared to the conventional computer-based platform. Despite some limitations, it shows promise in training CR skills, communication, and adaptive thinking. Social robotic VPs may prove useful and safe learning environments for exposing medical students to diverse, highly interactive patient simulations.

To study the clinical, laboratory profile and outcome of juvenile Systemic Lupus Erythematosus (jSLE) patients at a tertiary care centre in South India. A retrospective review of the medical records of all jSLE patients visiting the Pediatric Immunology and Rheumatology Unit, Aster CMI Hospital, India from February 2017 to December 2023 was performed. The clinical characteristics, treatment and outcomes were recorded and tabulated. Seventy patients diagnosed with jSLE were included in the study. The female-to-male ratio was 4.4:1. Mean age at onset and delay in diagnosis were 120.1 (+/- 56.8) and 11.7 (+/- 22.7) months respectively. The median follow-up period was 13 months (range 4, 29 months). Nine patients presented with early onset SLE (< 5 years). Most common manifestations were constitutional symptoms (n = 56), followed by haematologic (n = 55), and mucocutaneous(n = 50) involvement. Immunological workup showed SLE-specific antibody positivity in 38 patients, hypocomplementemia in 40 patients, and anti-phospholipid antibody positivity in 13 patients. Mortality was observed in five patients with LN while there was no mortality in the non-nephritis group (p 0.004). C1q deficiency was the most common cause of monogenic lupus seen in 5/9 patients; protein kinase C delta (PRKCD) defect and chronic granulomatous disease (CYBB mutation) were seen in one patient each. We describe a large cohort of jSLE from Southern India. Lupus nephritis was noted in 35.7% of our cohort and had a direct correlation with mortality. 10% of patients had monogenic lupus. Serious infections were more frequent in patients with monogenic lupus.

Chronic non-specific low back pain (LBP) is a serious public health issue that impairs the functional abilities of working men and women. The burden and experience of chronic non-specific LBP are largely influenced by psychological and psychosocial aspects. The objective was to investigate the association between the severity of chronic non-specific LBP disability and depressive symptoms in a sample of Croatian working active men and women with an age distribution from 35 to 65 years. The Roland Morris Disability Questionnaire (RMDQ) assessed disability, whereas the Beck Depression Inventory-II assessed depressive symptoms. During the routine outpatient visit self-reported RMDQ and BDI-II were completed from 203 recruited patients, divided into categories concerning disability scores. The median (IQR) age of 48.59 ± 6.48 was in the lower and the median (IQR) age of 50.65 ± 7.68 in the higher disability category. Disability was significantly associated (p < 0.05) with higher age (r = 0.177), working experience (r = 0.161), LBP duration (r = 0.195), greater pain intensity (r = 0.474 during activity, r = 0.227 at rest), and BDI-II score (r = 0.466). Higher BDI-II scores were associated with confirmatory answers on the 15th, 19th, and 22nd questions in RMDQ (p < 0.05). In patients with chronic non-specific LBP, higher degrees of disability were linked to severe depressive symptoms, aging, longer working experience, and increased pain intensity. These findings support pretreatment screening for depressive symptoms in order to develop individually customized and efficient multidisciplinary therapies.

Physical activity (PA) is a vital component in the management of chronic diseases, including cardiovascular, metabolic, and musculoskeletal conditions. In rheumatic diseases (RDs) such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and osteoarthritis (OA), PA has been shown to alleviate symptoms, enhance functional capacity, and improve quality of life. Given these advantages, wearable trackers and smartphone apps have revolutionized PA monitoring, offering quantitative reports of step counts, sedentary behavior, intensity, and energy expenditure. Pedometry-based health monitoring aids in evaluating patients' adherence to exercise regimens, tracking disease progression, and customizing interventions to meet individual needs. Patients with RDs often encounter barriers to maintaining regular PA, including joint pain, fatigue, and comorbidities, which complicate adherence and elevate the risk of adverse events. This overview delves into the dual role of PA in fostering health and managing disease in RD patients. Despite enormous benefits, it is essential to recognize limitations and risks of PA, particularly for individuals with high disease burden and multiple comorbidities. The findings emphasize the importance of integrating tailored PA programs within a multidisciplinary care framework to optimize patient outcomes.

Management of comorbidities is essential to a patient-centered approach to the treatment of chronic inflammatory arthritis. The aim of this study was to compare the prevalence of comorbidities and their risk factors in rheumatoid arthritis (RA), psoriatic arthritis (PsA), and axial spondyloarthritis (axSpA) in a single center outpatient cohort. This cross-sectional study included adult patients diagnosed with RA, PsA, and axSpA from a single rheumatology outpatient center. Comorbidities were documented by physicians, and patients were categorized into two age groups, younger (< 45 years) and older (≥ 45 years), with age- and gender-based comparisons. Disease activity, comorbidities, and cardiovascular (CV) risk factors were analyzed using chi-squared tests for categorical variables and independent samples t-tests for continuous variables, with p values < 0.05 considered statistically significant. Comorbidities were registered by physicians using GoTreatIt® Rheuma software. Among 508 RA, 267 PsA, and 285 axSpA patients, the four most common comorbidities were hypertension (36.4%, 25.1%, and 19.7%, respectively), dyslipidemia (19.5%, 15.4%, 14.7% respectively), obesity (16.9%, 22.5%, 14% respectively) and thyroid disease (21.5%, 13.9%, 11.2% respectively). Other comorbidities differed among the diseases and included osteoporosis, osteoarthritis, diabetes mellitus, arrhythmia, and asthma in RA, diabetes mellitus, depression and asthma in PsA, osteoporosis and serious infection in axSpA. RA patients, compared to axSpA had a higher prevalence of coronary artery disease (4.1% vs. 0.7%, p = 0.006), arrhythmia (6.9% vs. 2.5%, p = 0.008) and major adverse cardiac events (2.6% vs. 0.4%, p = 0.024) compared to axSpA. Osteoporosis was more frequent in RA (19.1%) and axSpA (8.4%) than in PsA (2.3%; p < 0.001) and was frequently diagnosed in patients aged < 45. Depression prevalence was surprisingly low (1.6%, 5.2%, and 1.8%, respectively). RA patients had the highest multimorbidity rate, with 26.6% reporting three or more comorbidities, compared to 16.8% in PsA and 10.6% in axSpA (p < 0.001). Health status was poorest in RA and worse in women compared to men for all diseases. RA, PsA, and axSpA share the same four most common comorbidities: hypertension, dyslipidemia, obesity, and thyroid disease but have different prevalence of other disorders and CV risk factors, indicating the need for an individual screening and prevention approach. The possible unrecognition of depression should be evaluated.

Systemic sclerosis (SSc) is a rare autoimmune disease of the connective tissue that can affect multiple organs. The esophagus is the most affected gastrointestinal tract, while interstitial lung disease (ILD) is a main feature associated with SSc. The aim of the present study was to evaluate the association and prognostic implication between motor esophageal disorders and pulmonary involvement in SSc patients. We retrospectively assessed patients with SSc who underwent both the HRM with the new Chicago Classification 4.0 and pulmonary evaluation comprehensive of function tests and high-resolution computer tomography (HrCT) with the use of Warrick score. A total score ≥ 7 was considered predictive of ILD, while a score ≥ 10 in a HrCT acquired prospectively from baseline evaluation was considered to establish significant interstitial involvement. Forty-two patients were included. We found a score ≥ 7 in 11 patients with aperistalsis, in 6 subjects with IEM and in 6 patients with a normal manometry. Otherwise, a score < 7 was observed in 3 patients with aperistalsis, and in 2 and 14 patients with IEM and with a normal contractility, respectively. Higher scores were observed in subjects with absent contractility or ineffective esophageal motility than subjects with normal motility, indeed DCI and HrCT score were inversely correlated in linear and logarithmic regression analysis. Prospectively, lower baseline LESP and greater HrCT scores at follow-up evaluation were significantly correlated. This study shows an association between motor esophageal disorder and pulmonary involvement in SSc patients: more severe is the esophageal involvement, more critical is the pulmonary disease.

Background: There may be some diversity in the practice of co-prescribing 2-mercaptoethane sodium sulfonate (mesna) with cyclophosphamide (CYC) for ANCA-associated vasculitis (AAV).

Objectives: To assess the practice of prescribing mesna prophylaxis for CYC-treated patients with AAV.

Methods: We invited authors of publications on AAV referenced in MEDLINE over the previous 10 years to participate in an anonymous online survey. Respondents were eligible if they were involved in CYC treatments for AAV. The survey asked about the characteristics of the respondents and their practice in using CYC and mesna to treat AAV and the underlying rationale. We compared 18 variables between mesna prescribers and their counterparts to identify factors associated with mesna use.

Results: In total, 139 eligible individuals completed the survey. The participants were from 34 countries and were essentially physicians (98%). Overall, 68%, 19% and 13% of respondents prescribed mesna systematically, never, or on a selective basis. As compared with never/selective-prescribers, systematic-prescribers were more often ≤ 39 years old (P = 0.008), more often used intermittent pulse therapy as the exclusive/predominant CYC administration scheme (P < 0.001), were more frequently based in France/Germany/Italy than in England/United States (P < 0.001), and more often indicated adherence to local standards (P = 0.003) or (inter)national guidelines for AAV (P < 0.001) as a rationale for their mesna practice. Never/selective-prescribers more commonly reported that their mesna prescription pattern had changed as compared with their former practice (P < 0.001).

Conclusions: Systematic co-prescription of mesna is the prevailing practice for CYC treatments for AAV. The practice seems to involve practicability considerations and differs between generations.