Open Access Rheumatology-Research and Reviews最新文献

Purpose: Appropriate reporting of race and ethnicity in rheumatology research is critical to ensure equity and diversity of study participants and findings, as sociodemographic factors can affect outcomes, particularly for systemic lupus erythematosus (SLE). JAMA published guidance on reporting of race and ethnicity, highlighting the importance of reporting appropriately and building on emerging guidance. This study aimed to quantify reporting of race and ethnicity in high-impact rheumatology journals to assess adherence to accepted reporting recommendations.

Patients and methods: Studies investigating issues related to SLE published in three of the highest impact rheumatology journals between 1/1/2020-12/31/2023 were included. Manuscripts not involving human subjects were excluded. Two researchers (I.E. and H.B.) systematically abstracted sociodemographic variables to ensure consistent coding of data; conflicts were resolved by consensus. Descriptive statistics of each variable and reporting criteria were calculated.

Results: In all, 117 articles met inclusion criteria. Among these, 114 (97%) included any demographic data, 87 (74%) reported race, 51 (44%) reported ethnicity. Of those that reported race, 65 (75%) were comprised of a majority White race and only 7 studies (8%) met the Office of Management and Budget (OMB) minimum reporting criteria for race. Only 20 studies (23%) mentioned that racial and ethnic categories were self-reported by patients. Additionally, 32 studies included any comorbidities, and 18 studies included various other socio-economic factors.

Conclusion: Despite known racial and ethnic disparities in SLE care and outcomes, reporting of race and ethnicity is not standardized across SLE research in rheumatology journals. Most publications do not meet minimum suggested race and ethnicity reporting criteria.

Background: Gout is a common, treatable inflammatory arthritis, yet adherence to guideline-based care remains suboptimal worldwide. Data from Saudi Arabia evaluating real-world gout care processes are limited.

Methods: We conducted a retrospective cohort study of adults with a a physician-documented diagnosis of gout who newly initiated allopurinol within a tertiary academic health system in Riyadh, Saudi Arabia, from January 2022 through December 2024. Pharmacy records were used to identify eligible patients, and electronic medical records were reviewed to extract demographic, clinical, and treatment data. Adherence to American College of Rheumatology (ACR) 2020 guideline-derived quality indicators was assessed, including guideline-concordant initiation of urate-lowering therapy (ULT), serum uric acid (SUA) monitoring, achievement of SUA <6 mg/dL, and use of anti-inflammatory prophylaxis. Multivariable logistic regression was used to identify predictors of adherence.

Results: Among 120 patients, 35.8% met ACR 2020 criteria for ULT initiation. SUA was measured within 6 months of initiation in 41.7% of patients, and at least annually in 61.7% of patients with at least 12 months of follow-up. Among 115 patients with at least 12 months of follow-up and at least one documented SUA measurement, 32.2% achieved SUA <6 mg/dL. Anti-inflammatory prophylaxis was received at ULT initiation by 15 out of 107 eligible patients (14%). Primary care management was independently associated with lower odds of meeting initiation criteria (OR 0.05, 95% CI 0.01-0.16) and of achieving the target SUA (OR 0.23, 95% CI 0.06-0.89) compared with rheumatology. Older age (OR 0.97, 95% CI 0.92-1.00) and male sex (OR 0.29, 95% CI 0.10-0.83) were also associated with lower SUA target attainment.

Conclusion: In this tertiary academic health system, guideline-recommended gout care processes were inconsistently executed across initiation, monitoring, target assessment, and prophylaxis domains. Primary care management was associated with lower odds of appropriate ULT initiation and target SUA attainment, and older age and male sex were also associated with lower target achievement. Standardized treat-to-target pathways supported by pharmacist- or nurse-led titration may improve performance.

Objective: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders with diverse clinical and genetic backgrounds. Classical-like EDS (clEDS, OMIM 606408) is an extremely rare autosomal recessive subtype caused by biallelic variants in TNXB. Fewer than 100 cases have been described worldwide. This study aimed to identify and characterise TNXB-related variants in two Polish patients with clinical features suggestive of clEDS.

Methods: Two male patients, aged 13 and 14 years, underwent comprehensive genetic testing, including next-generation sequencing (NGS) using a connective tissue gene panel, Multiplex Ligation-dependent Probe Amplification (MLPA), and Sanger sequencing. Family segregation analysis was performed to confirm compound heterozygosity.

Results: NGS and confirmatory analyses identified compound heterozygous TNXB variants: c.[7222C>T];[8780T>C], p.[Pro2408Ser];[Ile2927Thr] in Patient 1, and c.[5947_5948delinsTT];[8300C>T], p.[Glu1983Leu];[Thr2767Ile] in Patient 2. Both variants were located in non-homologous TNXB exons, minimising the risk of misinterpretation due to pseudogene sequences. The clinical presentations of both patients were consistent with the major diagnostic criteria for classical-like EDS.

Conclusion: This report presents the first genetically confirmed Polish patients with a classical-like form of Ehlers-Danlos syndrome, expanding the known clinical and molecular spectrum of TNXB-related EDS. Our findings reinforce the notion that heterozygous TNXB variants, particularly frameshift alterations, may occasionally contribute to mild connective tissue manifestations in carriers, underscoring the complexity of genotype-phenotype correlations in this rare disorder.

Objective: To evaluate the risk of immune-mediated rheumatic disease (IMRD) development among adult patients with temporomandibular disorders (TMDs) and to assess the risk factors for developing IMRD among patients with TMDs.

Methods: A retrospective single-center cohort study that included patients between January 1, 2018 and June 30, 2024. Patients ≥ 18 years old with newly diagnosed TMDs according to the TMD diagnostic criteria, who had ≥ 3 follow-up visits at the center for maxillofacial surgery and dental medicine clinics, Galilee medical center, were included.

Results: A total of 1,129 patients presented with TMDs, 130 patients met the inclusion criteria, of whom 114 (88%) were females. The most common temporomandibular joint (TMJ) symptoms were pain and click sounds in 128 (98.5%) and 24 (18.5%) of patients, respectively. Out of 130 patients with TMDs, 3 patients (2.3%) were diagnosed with IMRD (2 with rheumatoid arthritis (RA) (1.5%), and 1 with familial Mediterranean fever (0.8%)). The median follow-up was 39.9 months (IQR 29.1-51.6), and all patients contributed a total of 431.4 person-years at risk. The incidence rate for IMRD in patients with TMDs in our study was 695.4 per 100,000-person year, and for RA in particular was 463.6 per 100,000-person year None of the evaluated risk factors, including gender, TMJ pain, or other joints pain showed a significant association with the subsequent development of IMRD.

Conclusion: In this small retrospective cohort, patients with TMDs have higher incidence of IMRD compared to estimated incidence in the general population, especially RA.

Background: Fatigue is one of the most prevalent and disabling symptoms in patients with rheumatoid arthritis (RA), yet its relationship with disease activity remains complex and underexplored in many populations.

Objective: To evaluate the association between disease activity and fatigue in RA patients at King Abdulaziz University Hospital using validated clinical measures.

Methods: A cross-sectional study was conducted among 253 RA patients fulfilling the ACR/EULAR 2010 classification criteria. Disease activity was assessed using the Clinical Disease Activity Index (CDAI), and fatigue was measured with the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F) scale. Relationships between fatigue (FACIT-F scores) and CDAI were examined using Pearson correlation with continuous CDAI scores. Descriptive statistics (mean ± SD) of FACIT-F scores across CDAI categories were provided for illustration. Multivariate linear regression adjusted for age, sex, disease duration, body mass index, employment status, serological markers, and treatment type. ANOVA was applied to assess differences in mean FACIT-F scores across disease activity categories. Statistical significance was set at p < 0.05.

Results: Fatigue was reported by 80% of patients, with 10% experiencing severe fatigue (FACIT-F ≤13). Mean FACIT-F scores decreased as disease activity increased: remission 40.1 ± 8.2, low disease activity 35.7 ± 10.4, moderate disease activity 25.6 ± 9.8, and high disease activity 15.4 ± 7.3 (p < 0.001, ANOVA). Pearson correlation demonstrated a strong inverse relationship between CDAI and FACIT-F scores (r = -0.68, 95% CI: -0.83 to -0.45 in the high disease activity group). Multivariate analysis confirmed that disease activity remained a key determinant of fatigue after adjusting for potential confounders, with female sex, obesity, and longer disease duration also independently associated with lower FACIT-F scores.

Conclusion: Fatigue in RA is strongly associated with disease activity but persists in patients with well-controlled inflammation, reflecting multifactorial origins. Routine fatigue assessment and holistic management strategies addressing both inflammatory and non-inflammatory contributors are essential to improve patient quality of life and treatment outcomes.

Purpose: Osteoporosis (OP), a common comorbidity in patients with rheumatoid arthritis (RA), is characterized by reduced bone mineral density (BMD) and an increased risk of fractures. The interplay between chronic inflammation, RA medications, and other contributing factors exacerbates bone loss. In this study, we sought to estimate the prevalence of OP and identify factors associated with OP in patients with RA.

Patients and methods: We conducted a retrospective cross-sectional study using medical record data from patients diagnosed with RA at rheumatology clinics. The collected data included demographic details, clinical history, disease activity scores, medication use, and BMD measurements. Statistical analyses were performed to assess the prevalence of and identify significant risk factors for OP in this cohort.

Results: We included 173 Saudi patients with RA (mean age: 46.29 years; 154 women, 19 men) in the study. Mean age was significantly higher in the OP group than in the normal-BMD group. Disease duration was significantly associated with low BMD; 35.4% of patients in the normal-BMD group had disease duration <2 years, compared with only 4.3% in the OP group, whereas 50% of patients with OP had disease duration >10 years.

Conclusion: OP affected 26.6% of patients with RA, indicating that bone fragility is common in this population. The discovery that advanced age and disease duration are major risk factors for high-risk groups emphasizes the importance of early screening and targeted preventive interventions.

Purpose: Anti-citrullinated protein antibodies (ACPA) positivity decreases in elderly-onset rheumatoid arthritis (EORA), likely due to immunosenescence and clinical heterogeneity. This study aimed to evaluate the multi-biomarker disease activity (MBDA) score as an alternative diagnostic marker for rheumatoid arthritis (RA) in patients with new-onset joint symptoms, focusing on ACPA-negative cases stratified into young-onset RA (YORA) and EORA.

Patients and methods: This retrospective study was conducted at two institutions in Hokkaido, Japan (2018-2022). Patients with new-onset joint symptoms who had not received prior RA therapy were included. Baseline serum samples were analyzed for MBDA and high-sensitivity C-reactive protein (hsCRP). Diagnostic performance for RA was evaluated using sensitivity, specificity, accuracy, area under the curve, and logistic regression.

Results: Among 257 patients, 90 were <60 years (RA, n = 42) and 167 were ≥60 years (RA, n = 84). In YORA, ACPA was the strongest predictor (odds ratio [OR]: 170.48, P < 0.01). In ACPA-negative YORA, both MBDA (OR: 6.51, P = 0.03) and hsCRP (OR: 15.56, P = 0.02) were significant, and their combination improved accuracy to 86.9% (OR: 18.00, P < 0.01). In EORA, ACPA showed lower accuracy (70.1%), whereas MBDA was higher (74.9%). In ACPA-negative EORA, the combination of MBDA and hsCRP provided the highest predictive ability (accuracy: 72.8%; OR: 43.52, P < 0.01).

Conclusion: MBDA, particularly when combined with hsCRP, provides clinically meaningful diagnostic value for RA in patients with new-onset joint symptoms, particularly in ACPA-negative YORA and EORA.

Trial registration: This study was retrospectively registered in the University Hospital Medical Information Network (UMIN000057829).

Purpose: Fibromyalgia (FMS) is a chronic pain syndrome characterized by widespread pain, fatigue, sleep disturbance, and cognitive dysfunction. It is more common in women, often underdiagnosed, and may be shaped by lifestyle and occupational factors. Teachers experience high physical and psychosocial demands, yet FMS prevalence in this group in Saudi Arabia remains unclear. This study assessed FMS prevalence among schoolteachers in the Eastern Province, identified risk factors, and explored its impact on work performance.

Patients and methods: A cross-sectional study was conducted among 850 teachers aged ≥25 years from private and governmental schools. Participants completed a self-administered online survey including demographics, lifestyle, occupational, and health data, along with the validated Fibromyalgia Survey Diagnostic Criteria (FSDC, 2010 ACR). FMS prevalence and its associations with demographic and lifestyle factors were analyzed using chi-square and t-tests. Work performance was evaluated through self-reported measures of motivation, concentration, punctuality, absenteeism, and workplace relationships.

Results: Mean age was 44.8 (±8.7) years; 64% were female and 92.8% Saudi nationals. FMS prevalence was 14.4%, with only 4.5% previously diagnosed. FMS was significantly associated with female gender, divorced/widowed status, physical inactivity, and poor sleep, while BMI and age showed no significant association. Teachers with FMS reported lower motivation and concentration, but no differences were found in punctuality, absenteeism, or workplace relationships.

Conclusion: FMS affects approximately one in seven schoolteachers in the Eastern Province of Saudi Arabia, with the majority of cases remaining undiagnosed. Female gender, physical inactivity, and poor sleep were significantly associated with FMS. Teachers with FMS reported reduced work motivation and concentration. These findings highlight the need for increased awareness of FMS among educators and healthcare providers.

Background/purpose: The advent of targeted therapies, such as biologic disease-modifying anti-rheumatic drugs (bDMARDs) and Janus kinase inhibitors (JAKi), has revolutionized the treatment of rheumatoid arthritis (RA) patients who do not respond adequately to conventional disease-modifying anti-rheumatic drugs (csDMARDs). Concerns have been raised about the increased risk of infections, especially herpes zoster (HZ). The association between JAKi treatment and HZ remains complex. The objective of this study was to assess the risk of HZ among RA patients in our Rheumatoid Arthritis Saudi Database (RASD) receiving JAKi and other DMARDs.

Patients and methods: A 17-year retrospective multicenter chart review study was conducted in Saudi Arabia using RASD. We included patients diagnosed with RA according to the American College of Rheumatology criteria who were 18 years of age and above, on different modalities of treatment: csDMARDs, bDMARDs, targeted synthetic DMARDs (tsDMARDs) with or without concomitant GC. The following information was collected: demographics, comorbidities, medications, HZ occurrence, and vaccination history.

Results: A total of 614 patients diagnosed with RA were enrolled in the study of whom 87.6% (n=538) were female and 98.2% (n = 603) were of Arab ethnicity with a mean age was 48.79 ± 13.35 years. Herpes zoster (HZ) occurred in only 1.1% (n = 7) of patients. JAKi therapy was not associated with an increased risk of HZ (p = 0.454). However, Asian ethnicity (p = 0.010) and cumulative GC exposure ≥60 mg (p = 0.035) were significantly associated with higher HZ risk.

Conclusion: We did not detect any association between JAKi and HZ infection in our RASD. On the other hand, cumulative GC of 60 mg or more and Asian ethnicity were identified as significant risk factors. These findings provide a basis for future nationwide studies aimed to deliver personalized preventive strategies against HZ.

Objective: To report an unusual pediatric case of Guillain-Barré Syndrome (GBS) presented as the first manifestation of Systemic Lupus Erythematosus (SLE), highlighting diagnostic and clinical considerations.

Methods: We document the clinical presentation, laboratory findings, diagnostic investigations, and management of a 4-year-old boy who presented with progressive weakness and sensory deficits. Initial Electrophysiology and cerebrospinal fluid analysis reveal GBS diagnosis while, autoimmune and renal workup revealed an underlying SLE.

Results: We report a case of a 4-year-old boy who presented with progressive bilateral lower-limb weakness, absent deep tendon reflexes, sensory loss, and muscle weakness, confirmed as GBS through electrophysiological studies and cerebrospinal fluid analysis. Further investigations revealed thrombocytopenia, elevated antinuclear antibody titers, double-stranded DNA antibodies, proteinuria, and hematuria, leading to the diagnosis of SLE with GBS as the initial manifestation. The patient was referred for rheumatology and nephrology management and recovered from GBS but was diagnosed with SLE, complicated by membranous lupus nephritis (class V).

Conclusion: GBS can rarely present as the first neurological manifestation of pediatric SLE. Early recognition and a multidisciplinary approach are critical for effective management and improved outcomes.