Mediterranean Journal of Rheumatology最新文献

Background: Pulmonary arterial hypertension (PAH) is often overlooked in systemic lupus erythematosus (SLE) patients. However, the association between SLE and PAH is gaining attention due to unique mechanisms and treatment responses.

Objectives: This study aims to categorise SLE-PAH patients by autoantibody profiles and evaluate long-term outcomes, including mortality and changes in PAH over 12 months.

Method: A hospital-based investigation included SLE patients diagnosed with PAH. We analysed mortality, PAH resolution, increases in anti-PAH therapy, and follow-up right ventricular systolic pressure (RVSP) over 12 months. K-means cluster analysis was used for clustering, with regression analyses predicting mortality.

Result: Analysing 111 SLE PAH patients revealed three clusters: Cluster 1 (CL1)-Sm-RNP positive (n=48), Cluster 2 (CL2)-no specific autoantibodies (n=36), and Cluster 3 (CL3)-multiple autoantibody positivity (n=27) (Smith, Sm-RNP, nucleosome, histone). Nephritis was significant in CL3 with multiple antibody positivity compared to CL1 and CL2 (p=0.01). CL1 showed a higher baseline mean RVSP (64.5 ± 19.1 (CL1) vs 57.5 ± 12.6 (CL2) vs 50.9 ± 12, p=0.002) and more frequent use of dual anti-PAH therapy (p=0.000). CL2, without any specific antibody, had an earlier onset of PAH (p=0.04). Significant improvement in PAH after withdrawing anti-PAH medication was noted in Cluster 3 (p=0.00). Regression analysis showed that aggressive anti-PAH therapy lowers PAH-related mortality (p=0.01), while nephritis (p=0.012) and positive dsDNA (p=0.009) correlate with higher mortality.

Conclusion: This study is the first to analyse SLE-PAH through cluster-based methods. Sm-RNP antibodies indicate more severe disease needing dual therapy, while multiple positive antibodies suggest a better prognosis, with most patients achieving PAH resolution.

Objective: Our study aims to evaluate the effectiveness of anti-tumour-necrosis-factor Infliximab (IFX) in treating patients with severe and/or refractory vascular manifestations of Behçet's disease (BD) through a systematic review and meta-analysis.

Methods: We searched PubMed, Scopus, Web of Science, and Cochrane Library databases for eligible studies. Meta-analysis of proportions was performed. Heterogeneity was assessed with Cochrane's Q test and I² statistics. Random effects models were used for all statistical analyses which were conducted on R software (version 4.4.2), PROSPERO registry number CRD42025640970.

Results: Of the 2127 results initially identified, 11 studies with a total of 284 patients were included in the final analysis. Infliximab induced complete vascular response in 78.17% of patients (95% CI 63.11-90.61). The remission rates in the subgroups of patients with pulmonary artery aneurysm and the venous thrombosis events were respectively 99.13% (95% CI 86.21-100) and 86.48 % (95% CI 71.81-97.15).

Conclusion: Our systematic review and meta-analysis support the use of infliximab in patients with severe and/or refractory vascular Behçet's disease, particularly in cases involving pulmonary artery aneurysms.

Vasculitides encompass a group of inflammatory diseases that affect blood vessels, leading to vessel wall thickening, ischemia, and potential organ damage. While rare, the prevalence of vasculitis has increased in recent years. Its presentation often mimics infectious and paraneoplastic diseases, requiring the identification of risk factors and individualised diagnostic workup. Delayed or inaccurate diagnosis of vasculitis can result in significant morbidity, vascular complications, and death since specific therapy depends on underlying aetiology and pathology. This case series highlights three patients presenting with mycotic pseudoaneurysm, infectious occlusive iliac thrombus relative to a chronic state of immunosuppression, infections, and malignancy associated with Crohn-related fistulas, Campylobacter fetus bacteraemia, and paraneoplastic aetiologies, resulting in poor patient outcomes. It is crucial to distinguish primary vasculitis from secondary aetiologies and mimickers, as misdiagnosis can lead to unnecessary, potentially harmful treatments and delay in surgical interventions if indicated.

Background: The aim of this study was to evaluate the quality, completeness, accuracy, and readability of Large Language Models (LLM) responses to 25 popular questions about Familial Mediterranean Fever (FMF).

Methods: The readability of the responses of LLMs (ChatGPT-4, Copilot, Gemini) was assessed by Flesch Reading Ease Score (FRES) and Flesch-Kincaid Grade (FKG). The Ensuring Quality Information for Patients (EQIP) tool was used to assess the quality. To assess the completeness and accuracy of responses, 3-point and 5-point Likert scales were used, respectively.

Results: The mean FRES scores of LLMs ranged between 29.80 and 35.66. The FKG scores ranged between 12.36 and 13.72. The mean accuracy scores of LLMs ranged between 4.88 and 4.96. No significant difference was found between the LLM groups regarding accuracy and readability scores (p>0.05). The mean completeness scores of LLMs ranged between 2.36 and 2.84. ChatGPT-4 was the leading LLM in completeness scores according to the Likert scale, and the difference between LLM groups was statistically significant (p=0.006). Gemini performed better in the quality analysis with the EQIP tool, and there was a statistically significant difference between the LLM groups (p<0.001).

Conclusion: In this study, LLMs performed acceptably in accuracy and completeness. However, there are serious concerns about their readability and quality. To improve health information, LLM developers should include more diverse data sources in the training sets of the models. Moreover, the ability of LLMs to provide readability features that are adaptable to the level of education could be an important innovation in this field.

Background: Indirect immunofluorescence (IIF) is a useful diagnostic modality for anti-neutrophilic cytoplasmic antibody (ANCA) detection in ANCA associated with vasculitis and diseases beyond vasculitis. As per latest guidelines, the IIF has been replaced by enzyme-linked immunosorbent assay (ELISA) as first line of screening for ANCA. The study intends to evaluate the performance of IIF and ELISA for ANCA testing and the impact of antinuclear antibody (ANA) positivity on ANCA reporting across these platforms.

Methods: A total of 70 samples, 53 ANA positive and 17 ANA negative, were included in the study. They were tested for ANCA across three different platforms based on IIF and ELISA. An attempt was also made to identify if presence and pattern of ANA affected ANCA reporting across any particular platform.

Results: The impact of ANA positivity on ANCA reporting was done using logistic regression analysis. An evaluation of the sensitivity and specificity of each ANCA testing platform was done considering ELISA as the reference method. Subgroup analyses were conducted on the basis of ANA patterns to further know their impact on the specificity and sensitivity of ANCA tests. The use of a 3-biochip combination for ANCA reporting by IIF resulted in a significant reduction of false positive ANCA due to ANA when a combination of ethanol and formalin fixed granulocytes were used.

Conclusion: There are notable differences in ANCA diagnostics between IIF based on ethanol fixed granulocytes alone and combination of three biochip. However, the addition of Proteinase 3/myeloperoxidase (PR3/MPO) dots to the 3-chip combination did not offer any added advantage.

Background: Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are significant causes of morbidity and mortality in systemic sclerosis (SSc). Our objective was to determine screening practices for ILD and PAH in patients with SSc among rheumatologists in the Middle East and North Africa (MENA) region.

Methods: An online questionnaire was distributed to rheumatologists across the MENA region. Participants were asked to estimate the proportion of SSc patients in their practice, indicate whether they screen for ILD and PAH, and specify how often they utilise screening modalities, including chest X-ray (CXR), high-resolution CT (HRCT), pulmonary function tests (PFTs), echocardiograms (ECHO), and the use of the DETECT algorithm. Data were analysed using descriptive statistics, with p-values ≤0.05 regarded as statistically significant.

Results: 394 respondents completed the questionnaire from 17 MENA countries. 389 (98.73%) reported screening for ILD, and 369 (93.65%) screened for PAH. 270 respondents performed screening at the time of SSc diagnosis (68.53%). Screening approaches for ILD included CXR (211, 53.55%), HRCT (321, 81.47%), and PFTs (299, 75.89%), while PAH screening included ECHO (346, 87.82%), and the DETECT algorithm (26.14%). Statistical differences were observed in the average number of SSc patients seen per year (p=0.0008), gender of respondents (p=0.02), current age (p=0.02), background training (p<0.00001), use of ECHO as PAH screening (p=0.01), and the DETECT algorithm (p=0.000017) between SSc experts and non-SSc experts.

Conclusions: Our findings reflect real-world screening practices in SSc patients, emphasising discrepancies which could stem from variations in clinical training, resource availability, or institutional protocols across healthcare settings.

Background: Systemic autoimmune rheumatic diseases (SARDs) profoundly impact patients' quality of life (QoL) including sexual health, yet sexual dysfunction (SD) remains underrecognised in clinical care. Contributing factors include chronic pain, fatigue, joint stiffness, hormonal imbalances and psychological distress.

Objective: This review evaluates the prevalence, impact, and management of SD in patients with systemic autoimmune rheumatic diseases (SARDs), including Systemic Lupus Erythematosus (SLE), Rheumatoid Arthritis (RA), Ankylosing Spondylitis (AS), Sjögren's disease (SjD), and Systemic Sclerosis (SSc), as well as the related chronic condition Fibromyalgia Syndrome (FMS).

Methods: A systematic literature review was conducted using PubMed, Web of Science, and Scopus with relevant MeSH terms. Studies reporting SD in SARDs were included, with sexual function commonly assessed via the Female Sexual Function Index (FSFI) and International Index of Erectile Function (IIEF).

Results: SD prevalence ranged from 30% to 90%, varying by disease and gender. Up to 90% of women with SLE reported reduced desire and arousal. RA affected 30-70% of patients, with pain and depression as key drivers. In AS, erectile dysfunction affected 41-58% of men, influenced by age and disease duration. Over 56% of women with SjD experienced SD, often linked to vaginal dryness. SSc-induced fibrosis led to erectile dysfunction in 80% of men. FMS showed a 63% SD rate, associated with chronic pain and psychological burden.

Conclusion: SD is highly prevalent yet underaddressed in SARDs. A multidisciplinary approach combining pain management, psychological support, hormonal therapy, and patient education is essential.

Objective: Lung involvement in paediatric rheumatic diseases significantly impacts morbidity and mortality. High-resolution computed tomography (HRCT) is a sensitive diagnostic tool but raises concerns about radiation exposure. Spirometry, a non-invasive and accessible test, is often used to assess pulmonary function, but its accuracy in detecting lung disease in newly diagnosed pediatric rheumatic conditions remains uncertain. This study evaluates spirometry's reliability, using HRCT as the reference standard.

Methods: Patients suspected of lung involvement due to respiratory symptoms or disease prevalence underwent HRCT and pulmonary assessment. A retrospective review of HRCT scans was conducted for 22 pediatric patients diagnosed with rheumatic disease (January 2021-December 2023), all of whom had pathological findings. HRCT was performed using a paired end-inspiratory and forced-expiratory protocol with 1-mm collimation. Radiological findings, including parenchymal opacities, ground-glass opacities, reticular patterns, honeycombing, parenchymal bands, bronchiectasis, peribronchial wall thickening, and air trapping, were assessed. Spirometric values-percent predicted Forced Expiratory Volume in 1 second (ppFEV1), Forced Vital Capacity (ppFVC), and FEV1/FVC ratio-were collected for patients with acceptable flow-volume curves.

Results: Seventeen of 22 patients (77.3%) had technically acceptable spirometry. Compared to HRCT, spirometry demonstrated a sensitivity of 29.4%.

Conclusion: Despite its excellent positive predictive value, spirometry's low sensitivity suggests it may miss early lung involvement in paediatric rheumatic diseases. HRCT remains the preferred diagnostic tool to ensure accurate detection and management, despite radiation concerns.

Background: Despite Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy being widely acknowledged as a clinical entity and considered one of the most prevalent autoinflammatory diseases, there remains controversy surrounding its diagnostic criteria. Additionally, the epidemiology of the disease is largely unknown in Palestine. Therefore, the goal of this study is to enhance the understanding of PFAPA syndrome in Palestinian paediatric patients.

Methods: We carried out a retrospective cohort study that included 57 patients diagnosed with PFAPA at hospitals in Hebron, Palestine, specifically at Al-Ahli and the Palestinian Red Crescent Society (PRCS).

Results: The study revealed that PFAPA patients predominantly experienced fever (93.0%) and pharyngotonsillitis (100.0%), with significant associations noted between PFAPA and the presence of pharyngotonsillitis (p=0.006), adenitis (p=0.001), and periodicity. However, no significant associations were found between PFAPA and aphthous stomatitis, abdominal pain, or arthralgia. Patients with PFAPA were significantly less likely to experience diarrhoea (p=0.007) and chest pain (p=0.003). Treatment modalities included steroids (45.6%), tonsillectomy (57.9%), colchicine (91.2%), and antibiotics (56.1%).

Conclusions: This study offers important perception into the clinical characteristics, treatment outcomes, and epidemiology of PFAPA syndrome in Palestinian patients. The findings highlight fever and pharyngotonsillitis as predominant symptoms, along with significant associations observed with adenitis. Treatment approaches involving steroids, tonsillectomy, colchicine, and antibiotics were frequently utilised, with notable responses reported.