It is time to rethink juvenile idiopathic arthritis classification and nomenclature

University of Genoa, Pediatria II, Istituto G Gaslini, Largo Gaslini 5, Genova 16147, Italy.
Annals of the rheumatic diseases (Impact Factor: 10.38). 06/2012; 71(9):1437-9. DOI: 10.1136/annrheumdis-2012-201388
Source: PubMed


Juvenile idiopathic arthritis (JIA) is not a disease, but an exclusion diagnosis that encompasses all forms of arthritis that begin before the age of 16 years, persist for more than 6 weeks, and are of unknown origin. This heterogeneous group of chronic arthritides has been classified on clinical and laboratory grounds to try to identify homogeneous, mutually exclusives categories suitable for etiopathogenic studies . Recent advances have shown that while some JIA categories identify quite definite disease entities, others still include heterogeneous conditions. Some aspects of JIA classification and nomenclature need therefore to be reconsidered.

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    • "Ravelli and Martini [34] [35] have noted that this RF (À), ANA (þ) patients closely resemble oligoarticular JIA patients according to age of disease onset, strong female predominance, frequency of asymmetrical arthritis, and high incidence of iridocyclitis. Based on these similarities, it has been proposed that the JIA classification should be revised to consider persistent oligoarticular, extended oligoarticular, and RF (À), ANA (À) patients to have the same disease [15]. While Martini and Ravelli's view was arrived at based on clinical and serologic data, it has gained support from gene expression studies. "
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    ABSTRACT: In recent years, it has become increasingly clear that the term Juvenile Idiopathic Arthritis (JIA) comprises not one disease but several. Moreover, recent studies strongly suggest that some of these clinico-pathophysioloigic entities appear to cross current diagnostic categories. The ultimate goal of the JIA classification is to facilitate development of better, more specific therapy for different forms of disease though improved understanding of pathophysiology. The past two decades have witnessed significant advances in treatment and improved outcomes for many children with chronic arthritis. However, understanding of the basic biologic processes underlying these diseases remains far from complete. As a result, even the best biologic agents of today represent "halfway technologies". Because they do not treat fundamental biologic processes, they are inherently expensive, need to be given for a long time in order to ameliorate the adverse effects of chronic inflammation, and do not cure the disease. Pediatric rheumatology is now entering an era in which diagnostic categories may need to change to keep up with discovery. A more precise, biologically based classification is likely to contribute to development of more specific and improved treatments for the various forms of childhood arthritis. In this review, we discuss how genetic, gene expression, and immunologic findings have begun to influence how these diseases are understood and classified.
    Full-text · Article · Jan 2014 · Journal of Autoimmunity
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    ABSTRACT: Juvenile idiopathic arthritis (JIA) is a common autoimmune disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The protein tyrosine phosphatase nonreceptor 22 (PTPN22) and signal transducer and activator of transcription factor 4 (STAT4) have been recognized as susceptibility genes for numerous autoimmune diseases. Associations of STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations. The aim of this study was to investigate the influence of three polymorphisms mentioned above on the risk of developing JIA in Han Chinese patients. Genotyping was performed on a total of 137 Chinese patients with JIA (JIA group) and 150 sex and age frequency-matched healthy volunteers (Control group). The single-nucleotide polymorphisms (SNP) were determined by using direct sequencing of PCR-amplified products. There were significant differences of PTPN22 rs2488457 G/C and STAT4 rs7574865 G/T polymorphisms between both groups. However, no significant difference was observed in distribution frequencies of PTPN22 rs2476601 polymorphism. The association with the PTPN22 rs2488457 G/C polymorphism remained significant in the stratifications by age at onset, ANA status, splenomegaly, lymphadenectasis and involvement joints. As with the STAT4 rs7574865 G/T polymorphisms, the enthesitis-related arthritis and presence of hepatomegaly had strong effect on the association. Our data strengthen STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms as susceptibility factors for JIA.
    Full-text · Article · Mar 2015 · PLoS ONE
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    ABSTRACT: Systemic juvenile idiopathic arthritis (sJIA) sets well apart from all the other forms of JIA. Several observations show that sJIA is etiopathogenically different from all the other forms of JIA and has a prominent autoinflammatory component. A major role in the pathogenesis is played by two proinflammatory cytokines, interleukin-6 and interleukin-1. The specific inhibition of these two cytokines is going to change not only the therapeutic approach to the disease but also, presumably, its long term prognosis.
    No preview · Article · Aug 2012 · Autoimmunity reviews
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