Search

Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with NLRP3 gene mutations and increased interleukin-1 (IL-1) secretion. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage. The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using 1000Minds decision software. Resulting CAPS criteria were tested in large cohorts of CAPS cases and controls using correspondence analysis. Diagnostic models were explored using sensitivity analyses. The international team included 16 experts. Systematic literature and registry review identified 33 CAPS-typical items; the consensus conferences reduced these to 14. 1000Minds exercises ranked variables based on importance for the diagnosis. Correspondence analysis determined variables consistently associated with the diagnosis of CAPS using 284 cases and 837 controls. Seven variables were significantly associated with CAPS (p<0.001). The best diagnosis model included: Raised inflammatory markers (C-reactive protein/serum amyloid A) plus ≥two of six CAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities. Sensitivity was 81%, specificity 94%. It performed well for all CAPS subtypes and regardless of NLRP3 mutation. The novel approach integrated traditional methods of evidence synthesis with expert consensus, web-based decision tools and innovative statistical methods and may serve as model for other rare diseases. These criteria will enable a rapid diagnosis for children and adults with CAPS. [ABSTRACT FROM AUTHOR]

Nine hundred seventy-four laboratory sample results from 445 patients with pediatric rheumatologic diseases (79.5% with JIA, 20.5% with other diseases) admitted to our centre between 2018 and 2021 and treated with MTX orally or subcutaneously for at least 3 months were extracted from the database of the German Center of Pediatric Rheumatology. Methotrexate (MTX) is the most commonly used DMARD in the treatment of juvenile idiopathic arthritis (JIA) [[1]]. [Extracted from the article]

Background: Studies of paediatric patients with membranous lupus nephritis (MLN) have yielded variable results, mostly due to the inclusion of mixed, i.e. proliferative nephritis. The aim of this study was to describe clinical and laboratory findings at the diagnosis of paediatric non-proliferative MLN, report the outcome and identify predictors of remission. Methods: A single-center cohort study of consecutive children diagnosed with non-proliferative MLN was performed. Clinical and laboratory measures and treatment regimens were obtained in prospective standardized assessments. Renal outcome was measured by renal parameters and steroid requirement. Predictors for remission and time to remission were determined. Results: A total of 30 children were identified with a median follow-up time 4.1 years. Of 21 patients followed for more than 2 years, 19 (90 %) achieved clinical remission, and 16 (76 %) achieved a state of maintained clinical remission on low-dose prednisone. Three patients developed proliferative nephritis on subsequent renal biopsy. Lower albumin at the time of biopsy was correlated with a lower rate of remission and longer time to remission. Conclusions: Among our paediatric patient cohort the outcome of non-proliferative MLN in systemic lupus erythematosus was good. The majority of patients did not require aggressive immunosuppressive treatment to reach a stable disease state on low-dose steroid treatment. [ABSTRACT FROM AUTHOR]

Background: Variations in the treatment of juvenile idiopathic arthritis (JIA) may impact on quality of care. The objective of this study was to identify and compare treatment approaches for JIA in two health care systems. Methods: Paediatric rheumatologists in Canada (n=58) and Germany/Austria (n=172) were surveyed by email, using case-based vignettes for oligoarticular and seronegative polyarticular JIA. Data were analysed using descriptive statistics; responses were compared using univariate analysis. Results: Total response rate was 63%. Physicians were comparable by age, level of training and duration of practice, with more Canadians based in academic centres. For initial treatment of oligoarthritis, only approximately half of physicians in both groups used intra-articular steroids. German physicians were more likely to institute DMARD treatment in oligoarthritis refractory to NSAID (p<0.001). Canadian physicians were more likely to switch to a different DMARD rather than a biologic agent in polyarthritis refractory to initial DMARD therapy. For oligoarthritis and polyarthritis, respectively, 86% and 90% of German physicians preferred regular physiotherapy over home exercise, compared to 14% and 15% in Canada. Except for a Canadian preference for naproxen in oligoarthritis, no significant differences were found for NSAID, intra-articular steroid preparations, initial DMARD and initial biologic treatment. Conclusions: Treatment of oligo- and polyarticular JIA with DMARD is mostly uniform, with availability and funding obviously influencing physician choice. Usage of intra-articular steroids is variable within physician groups. Physiotherapy has a fundamentally different role in the two health care systems. [ABSTRACT FROM AUTHOR]

Clinical images from magnetic resonance imaging (MRI) of a 21-year-old man with painful polyarthritis of the large joints and cloudy heterotopic calcifications due to mutations in the COL2A1 gene are presented.

An abstract of the conference paper "Treatment preferences in juvenile idiopathic arthritis: A comparative analysis in two health care systems," by Boris Hugle and Susanne M. Benseler is presented.