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Objectives: With advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways. Methods: This national multicentre study included 88 genetically confirmed monogenic lupus patients from 22 paediatric rheumatology centres across Türkiye. Fulfilment of the AmericanCollege of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012 and European League Against Rheumatism (EULAR)/ACR-2019 criteria and pathway-based differences in classification performance were assessed. Results: Overall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63–0.73), with no significant differences between criteria (P > 0.05). Classification performance differed significantly across genetic pathways (P < 0.05), with the highest fulfilment performances in complement deficiencies and the lowest in nucleic acid metabolism and type I interferon pathway defects. Most patients who did not fulfil any classification criteria had nucleic acid metabolism and clearance defects (13/15, 86.7%). Domain-level analyses showed that classification success was mainly driven by mucocutaneous, immunologic and renal domains. Complement and immune-regulation defects showed a more classical lupus phenotype, with most fulfilling all three criteria (78.6%, 22/28 and 77.8%, 14/18), whereas the proportion was lower in type I interferon pathway and nucleic acid metabolism and clearance defects (33.3%, 2/6 and 47.2%, 17/36). No classification criteria were superior within genetic pathways. Conclusion: One-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.

Objectives: Exertional leg pain (ELP) is an underrecognized manifestation of FMF with unclear pathophysiology. This study performed a comprehensive ultrasonographic evaluation of lower-extremity joints, tendons and entheses in paediatric FMF patients with ELP, comparing findings with non-ELP patients and matched healthy controls. Methods: Paediatric FMF patients carrying homozygous or compound heterozygous pathogenic MEFV variants were enrolled in this prospective study. Demographic, anthropometric and clinical data were collected, while a blinded operator performed standardized ultrasonographic evaluations. Results: A total of 50 patients and 25 heathy controls were included (25 with ELP, 25 without). No differences were observed between the groups in demographic, anthropometric or FMF-related factors, including MEFV mutations and ISSF scores. Among the evaluated parameters, Achilles tendon thickness was significantly increased in children with ELP, independent of demographic or anthropometric factors, compared with both healthy and non-ELP group (P < 0.01). Nine patients exhibited grade 1 knee synovial effusions, predominantly in the ELP cohort, most with subclinical inflammation. One patient with ELP demonstrated enthesitis and was diagnosed with HLA-B27-negative ERA. Patellar tendon and plantar fascia thickness were comparable. Conclusion: Paediatric FMF patients with ELP demonstrated increased achilles tendon thickness. Although no standardized cut-off exists for tendinopathy, this may reflect tendon structural changes related to ELP. Moreover, FMF patients, particularly those with ELP, exhibited inter-attack knee effusions which may serve as a marker for subclinical inflammation. Larger longitudinal cohorts are needed to define ELP, elucidate its underlying pathways and clarify the clinical significance of Achilles tendon thickening.

Oligoarticular juvenile idiopathic arthritis (oJIA) is the most common JIA subtype, with variable disease courses influencing long-term outcomes. Joint involvement patterns significantly affect disease activity, treatment response, and prognosis. This study evaluates the impact of joint involvement on disease activity, inflammatory markers, treatment needs, and disease extension in patients with oJIA. We retrospectively analysed 124 oJIA patients followed for a median of 62 months. Joint involvement, disease activity (Juvenile Arthritis Disease Activity Score [JADAS-27]), inflammatory markers (erythrocyte sedimentation rate [ESR], C-reactive protein [CRP]), and treatment modalities were assessed. Persistent and extended disease courses were compared. A total of 124 patients with oJIA (63.7% female) were included, with a median age at diagnosis of 8.2 years. The knee was the most frequently involved joint (87.1%), followed by the ankle (41.1%) and hip (22.6%). Patients with ankle, wrist, and elbow involvement had significantly higher JADAS-27 scores at baseline. Notably, ankle involvement was associated with sustained higher disease activity up to the first year and higher final CRP levels. Repeated measures ANOVA demonstrated a significant decline in JADAS-27 over time across all joint subgroups (p<0.001), with no joint-specific difference in trajectory. Ankle and small hand joint (MCP/PIP) involvement were significantly associated with increased use of cDMARDs and anti-TNF agents. Patients with extended oJIA had significantly higher JADAS-27 scores at all timepoints except the final visit and were more likely to have symmetric joint involvement and receive biologic therapy compared to those with persistent oJIA (anti-TNF use: 70% vs. 25%, p<0.001). Joint involvement patterns, particularly affecting the ankle, wrist, and small hand joints, are associated with higher disease activity and increased treatment requirements in oJIA. Symmetrical and extended disease forms further indicate a more severe course. Early identification of these high-risk features may guide personalized treatment and improve long-term outcomes.

Juvenile idiopathic arthritis (JIA) presents with diverse phenotypes and can lead to significant morbidity. Obesity, affecting 5 to 23% of JIA patients, may exacerbate disease activity and complicate management. This study evaluates the impact of body mass index (BMI) on disease activity and the influence of joint involvement on BMI in JIA patients. Between January 2012 and June 2024, 225 JIA patients were reviewed, with 173 ultimately included based on specific inclusion and exclusion criteria. Treatments followed the American College of Rheumatology (ACR) recommendations. Data on demographics, BMI, JADAS-27 scores, joint involvement, and laboratory parameters were analyzed, with statistical significance defined as p < 0.05. Among 173 JIA patients, significant increases in weight and height SDS were observed (p < 0.05). Obese patients at baseline had higher JADAS-27 scores at 6 months (p < 0.05). A positive correlation was found between initial JADAS-27 and final BMI SDS (r = 0.170, p < 0.05). Patients with hip involvement had lower BMI at diagnosis and at the first-year follow-up (p < 0.0001, p = 0.049), while knee involvement was linked to lower height SDS at the second year (p = 0.041). Conclusion: Our study revealed that baseline obesity is a significant risk factor for poorer disease control at the 6-month follow-up in JIA patients. We also observed that effective treatment led to improvements in growth, particularly in patients with hip involvement, who initially had lower BMI values. These findings underscore the importance of monitoring BMI in JIA patients to optimize disease management and long-term outcomes. What is Known:• Overweight and obesity are prevalent in children with JIA, with reported rates ranging from 5 to 23% in various studies.• The relationship between BMI and disease activity in JIA remains controversial, with previous studies reporting conflicting results on whether BMI impacts disease remission or activity. What is New:• Baseline obesity in juvenile idiopathic arthritis (JIA) patients is associated with worse disease activity during follow-up, particularly evident at the 6-month visit.• Patients with hip involvement had significantly lower BMI values, indicating a potential correlation with more severe disease.• Improved linear growth was observed in JIA patients during follow-up, indicating that effective treatment positively impacts growth despite the chronic nature of the disease.

Pediatric patients with Eosinophilic Granulomatosis with Polyangiitis (EGPA) are at an increased risk of arterial and venous thromboembolism (AVTE). Although the exact mechanisms underlying AVTE remain unclear, eosinophils play a pivotal role in AVTE. Current guidelines lack evidence-based recommendations, particularly concerning anticoagulant and antiplatelet treatments for this condition. Herein, we document a pediatric EGPA patient with deep venous thrombosis presenting with massive pulmonary thromboembolism during a relapse, treated with immunosuppressive and anticoagulant therapy to raise awareness among clinicians. Additionally, we performed a literature review to highlight various aspects of pediatric AVTE. Moreover, we evaluated the management strategies employed for the patients identified in the literature review and summarized the current practice guidelines regarding pediatric EGPA patients with AVTE to provide recommendations to clinicians on the management of this challenging complication. Most AVTE events occur during periods of high disease activity. Notably, EGPA patients with VTE often present with thrombocytopenia due to consumption, a finding not typically expected during disease exacerbation. Venous thrombosis generally requires both anticoagulation and immunosuppressive treatment. Although our review indicates a favorable prognosis for AVTE, the small number of reported cases prevents us from drawing definitive conclusions. Future studies should explore the efficacy of mepolizumab and other eosinophil-targeted therapies for AVTE, in addition to investigating the roles of anticoagulation and antiplatelet treatments.