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ID PMID Title PublicationDate abstract
23492739 Psoriatic arthritis and spondyloarthritis assessment and management update. 2013 May PURPOSE OF REVIEW: There have been numerous recent advances in our understanding about the epidemiology, pathophysiology, classification, assessment, and emerging treatments and treatment paradigms of psoriatic arthritis (PsA) and spondyloarthritis (SpA). This review provides an update on classification, assessment approaches, and treatments for these conditions. This is timely because it is becoming clear that the prevalence of the spondyloarthritides, including PsA, ankylosing spondylitis, and the broader categories of SpA may be present in 1-2% of the general population, more prevalent than rheumatoid arthritis (RA). RECENT FINDINGS: There are new classification criteria of axial and peripheral SpA as well as the CASPAR criteria for PsA, a new composite measure for ankylosing spondylitis and axial SpA, the ASDAS, new measures for the heterogeneous clinical domains of PsA, studies of biologic treatments of axial and peripheral SpA, and new drugs beyond anti-tumor necrosis factors for PsA and SpA. SUMMARY: New criteria, assessment tools, and therapies will aid research, diagnosis, and timely and targeted treatment to quantitated outcomes for PsA and SpA.
23406817 Atherosclerosis and cardiovascular disease in the spondyloarthritides, particularly ankylo 2013 Jul The spondyloarthritides (SpA) are a group of idiopathic inflammatory diseases affecting the axial and/or peripheral skeleton. Recent evidence points towards an increased mortality and morbidity due to cardiovascular disease, especially within the two major forms of SpA, ankylosing spondylitis and psoriatic arthritis. Several studies have identified alterations of the lipid profile, insulin sensitivity and other metabolic cardiovascular risk factors in SpA patients. An array of vascular morphologic and functional abnormalities has also been reported in these diseases, supporting the hypothesis of accelerated atherosclerosis in SpA. Inflammation appears to be a major player, involved both in the impairment of the classic cardiovascular risk factors, as well as directly in the process of endothelial injury, dysfunction and ultimately atherosclerosis. Multiple studies in rheumatoid arthritis have suggested that effective suppression of inflammation with synthetic disease-modifying anti-rheumatic drugs or with biologics may also exert favourable effects in the cardiovascular risk. Although such evidence is currently lacking for SpA, there is little doubt that physicians caring for patients with SpA should aim at controlling both inflammation and traditional cardiovascular risk factors. Such an integrated approach is expected to benefit patients in multiple levels.
24511322 The Effects of Platycodin D, a Saponin Purified from Platycodi Radix, on Collagen-Induced 2014 The object of this study is to observe the effects of platycodin D, a saponin purified from Platycodi Radix, on mice collagen-induced arthritis (CIA). A daily dose of 200, 100, and 50 mg/kg platycodin D was administered orally to male DBA/1J mice for 40 days after initial collagen immunization. To ascertain the effects administering the collagen booster, CIA-related features (including body weight, poly-arthritis, knee and paw thickness, and paw weight increase) was measured from histopathological changes in the spleen, left popliteal lymph node, third digit, and the knee joint regions. CIA-related bone and cartilage damage improved significantly in the platycodin D-administered CIA mice. Additionally, myeloperoxidase (MPO) levels in the paw were reduced in platycodin D-treated CIA mice compared to CIA control groups. The level of malondialdehyde (MDA), an indicator of oxidative stress, decreased in a dose-dependent manner in the platycodin D group. Finally, the production of IL-6 and TNF- α , involved in rheumatoid arthritis pathogenesis, was suppressed by treatment with platycodin D. Taken together, these results suggest that platycodin D is a promising new effective antirheumatoid arthritis agent, exerting anti-inflammatory, antioxidative and immunomodulatory effects in CIA mice.
24427384 Glenohumeral joint injections: a review. 2013 Mar CONTEXT: Intra-articular injections into the glenohumeral joint are commonly performed by musculoskeletal providers, including orthopaedic surgeons, family medicine physicians, rheumatologists, and physician assistants. Despite their frequent use, there is little guidance for injectable treatments to the glenohumeral joint for conditions such as osteoarthritis, adhesive capsulitis, and rheumatoid arthritis. EVIDENCE ACQUISITION: We performed a comprehensive review of the available literature on glenohumeral injections to help clarify the current evidence-based practice and identify deficits in our understanding. We searched MEDLINE (1948 to December 2011 [week 1]) and EMBASE (1980 to 2011 [week 49]) using various permutations of intra-articular injections AND (corticosteroid OR hyaluronic acid) and (adhesive capsulitis OR arthritis). RESULTS: We identified 1 and 7 studies that investigated intra-articular corticosteroid injections for the treatment of osteoarthritis and adhesive capsulitis, respectively. Two and 3 studies investigated the use of hyaluronic acid in osteoarthritis and adhesive capsulitis, respectively. One study compared corticosteroids and hyaluronic acid injections in the treatment of osteoarthritis, and another discussed adhesive capsulitis. CONCLUSION: Based on existing studies and their level of evidence, there is only expert opinion to guide corticosteroid injection for osteoarthritis as well as hyaluronic acid injection for osteoarthritis and adhesive capsulitis.
24324911 The efficacy and safety of rituximab in a patient with rheumatoid spondylitis. 2013 Rheumatoid arthritis (RA) is considered as a connective tissue disease while ankylosing spondylitis (AS) is a prototype of spondyloarthritis. These diseases are seen concomitantly only very rarely. Also, rituximab has proven efficacy in the treatment of RA while its role in the treatment of AS is unclear. In this presentation, the concomitant presence of RA and AS in a 43-year-old male patient as well as the efficacy and safety of rituximab is discussed. Rituximab was given due to lack of response to treatment with anti-TNF-alpha. Evaluations made at the 6th and 12th months of treatment showed complete response for RA and partial response for AS.
25535818 Serum calprotectin: review of its usefulness and validity in paediatric rheumatic diseases 2015 Jan In most childhood rheumatic diseases, specific diagnostic markers are not yet available. Therefore, a major emphasis in medical research today is directed to the discovery of new inflammation molecules, like calprotectin. Calprotectin (MRP8/MRP14) is a complex of calcium- and zinc-binding proteins that belong to the S100 protein family. This protein is directly released by leukocytes during the interaction with inflammatory activated endothelium at the site of inflammation. Increased plasma calprotectin levels have been found in inflammatory chronic diseases such as rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), inflammatory bowel diseases (IBD), multiple sclerosis, cystic fibrosis and systemic lupus erythematosus (SLE). In these diseases, serum calprotectin has been shown to correlate with disease activity and laboratory variables of inflammation such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). This review outlines the validity and the possible applications of calprotectin as a new inflammation marker in paediatric rheumatic diseases.
23819059 Angiogenic and inflammatory properties of psoriatic arthritis. 2013 Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy associated with psoriasis and included in seronegative spondyloarthropathy. PsA has several unique characteristics different from rheumatoid arthritis (RA), such as enthesopathy, dactylitis, and abnormal bone remodeling. As compared with synovitis of RA (pannus), proliferation of PsA synovium is mild and characterized by hypervascularity and increased infiltration of polymorphonuclear leukocytes in the synovial tissues. Angiogenesis plays a crucial role in cutaneous psoriasis, and several angiogenic factors such as vascular endothelial growth factor, interleukin-8, angiopoietin, tumor necrosis factor- α and transforming growth factor-β, are suggested to play an important role also in the pathophysiology of PsA. Further, IL-17 has various functions such as upregulation of proinflammatory cytokines, attraction of neutrophils, stimulation of keratinocytes, endothelial cell migration, and osteoclast formation via RANKL from activated synovial fibroblasts. Thus, IL-17 may be important in angiogenesis, fibrogenesis, and osteoclastogenesis in PsA. In this paper, roles of angiogenesis in the psoriatic synovium are discussed, which may strengthen the understanding of the pathogenesis of PsA.
24531503 Acute anterior uveitis after discontinuation of tocilizumab in a patient with rheumatoid a 2014 BACKGROUND: Tocilizumab is a humanized monoclonal anti-interleukin-6 (IL-6) receptor antibody and has been approved in Japan for the treatment of Castleman's disease, rheumatoid arthritis (RA), and systemic juvenile idiopathic arthritis. Conjunctivitis and dry eye are known ocular adverse effects, but uveitis has not been reported. CASE REPORT: A 72-year-old woman had undergone bilateral cataract surgery without complications. Six months after the surgery, she was diagnosed with RA and treated with tocilizumab infusion every 4 weeks. However, severe malaise and dizziness occurred after the third tocilizumab infusion, and the treatment was suspended. Since the symptoms associated with RA had resolved, she was followed without any medication thereafter. At 5 weeks after the third tocilizumab infusion, she developed severe anterior inflammation with hypopyon in her left eye, and her visual acuity dropped to less than 2/200. Considering her age and history of cataract surgery, endophthalmitis was suspected and a vitrectomy was performed, but no pathogens were detected from the intraocular fluid samples collected during surgery. The ocular inflammation was gradually resolved with systemic antibiotics and corticosteroids. However, severe anterior uveitis recurred in the same eye during the tapering of the systemic corticosteroids, when the aqueous humor IL-6 level was 46,100 pg/mL. The recurrent ocular inflammation was resolved with increased doses of topical and systemic corticosteroids, and the patient has since remained relapse-free. No symptom of inflammation was observed in the right eye during the follow-up period. CONCLUSION: This case indicates a possibility that acute anterior uveitis may have been an adverse effect after the discontinuation of anti-IL-6 receptor antibody therapy in a patient with RA.
23793841 [Differential indications for current endoprosthesis systems of the shoulder]. 2013 Jul Modern shoulder prostheses adapt to the size, inclination, posterior offset and retrotorsion of the shoulder anatomy. Typical implants are cup prostheses for surface replacement, stemless prostheses that anchor in metaphyseal bone, anatomical prostheses using stems of different lengths, and last but not least reverse prostheses. The main reasons for implantation of shoulder prostheses are primary osteoarthritis, posttraumatic and rheumatoid arthritis, avascular necrosis, arthritis of instability and cuff defect arthropathy.Anatomical hemiprostheses should be used only if the glenoid is intact as total prostheses are functionally better as soon as the arthritis involves the glenoid. Conventional stems are cemented most of the time and cemented glenoids that are convex on the back are standard. Stemless prostheses were developed for posttraumatic indications and can often replace stemmed designs if the bone quality is good. Reverse prostheses were developed for the treatment of cuff tear arthropathies but if used as a revision implant complication rates rise and survival time is shorter.
25088300 A review of disease activity measures for psoriatic arthritis: what is the best approach? 2014 Sep The measuring tools for disease activity of rheumatoid arthritis have long been adapted for assessing the disease activity of psoriatic arthritis (PsA), particularly as regards peripheral arthritis. However, because of the multifactorial aspects and multiple domains of PsA, such as axial and peripheral joints, skin and nails, enthesitis and dactylitis, must also be considered when measuring activity. After the introduction of biologic agents, it became clear that more objective measuring tools were needed to assess the varied aspects of disease activity, as well as the effect of treatment. Collaborations among international groups of rheumatologists and dermatologists have helped define key or core domains of PsA that were recommended for inclusion in clinical trials and potentially clinical practice. Groups such as the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis have tried to develop and validate new outcome measures in PsA. Several new composite measures for specific PsA have been recently developed. The domains, instruments and traditional and new composite measures for PsA are reviewed herein.
25365084 Optimal use of MRI in clinical trials, clinical care and clinical registries of patients w 2014 Sep Magnetic resonance imaging (MRI) clearly is more sensitive than clinical examination and conventional radiography (x-ray) for detection of inflammation (synovitis, bone marrow oedema (osteitis) and tenosynovitis) and damage (bone erosion and cartilage loss/joint space narrowing) in patients with rheumatoid arthritis (RA). The question is when and how MRI should be used. The present article reviews our knowledge about, and provides suggestions for, the use of MRI in clinical trials, clinical care and clinical registries. In clinical trials, the OMERACT RA MRI scoring system (RAMRIS) is a thoroughly validated method which in less time and with fewer patients than x-ray can discriminate between different therapies regarding structural damage progression, and which on top of this offers detailed assessment of upstream inflammatory drivers of damage. In routine clinical care, MRI can contribute to an earlier diagnosis of RA, can reveal subclinical disease activity, e.g. in the synovium (synovitis) and bone (osteitis), and can provide information of strong prognostic significance for the subsequent disease course, which may be useful when deciding the treatment strategy. Future studies will clarify the benefits of including MRI in treat-to-target strategies. The benefits of incorporating MRI into clinical registries are not yet known, but may include improved knowledge about the real-life advantages of MRI, as well as opportunities to develop better clinical and laboratory composite measures to monitor and predict the disease course in RA. In conclusion, MRI has well-documented relevance in several settings in clinical trials and care, but not yet in clinical registries.
24803232 Prevalence of psoriatic arthritis in psoriasis patients according to newer classification 2014 The aim of this study is to determine the prevalence of psoriatic arthritis (PsA) according to Classification of Psoriatic Arthritis (CASPAR) criteria, Assessment of Spondyloarthritis International Society (ASAS) peripheral and axial SpA criteria, and New York criteria for AS. The first 100 patients consecutively attending a psoriasis dermatology clinic were assessed. Demographic and clinical data were collected; all patients were questioned and examined for joint manifestations. Rheumatoid factor and radiographies of hands, feet, cervical spine, and pelvis for sacroiliac joints were obtained. X-rays were read independently by two experienced observers in blind fashion. Patients with objective joint manifestations, both axial and peripheral, were evaluated for fulfillment of CASPAR, ASAS peripheral and axial, and New York criteria. Median age 48 years; 93 % of patients had psoriasis vulgaris and 56 % had nail involvement. Seventeen patients had peripheral arthritis as follows: nine mono/oligoarticular and eight polyarthritis. Median arthritis duration was of 8 years. Seventeen percent of patients fulfilled CASPAR and ASAS peripheral criteria, 6 % New York, and 5 % ASAS axial criteria. Patients who met CASPAR criteria showed a significantly higher psoriasis duration compared to those without arthritis (M 16 vs 10 years, p = 0.02), and a higher frequency of nail involvement (88.2 vs 49.4 %, p = 0.003). Five patients (29.4 %) fulfilled ASAS axial criteria; all of them had peripheral involvement as follows: mono/oligoarticular in three patients and polyarticular in two. Patients with peripheral and axial involvement presented a significantly higher frequency of erythrodermic psoriasis compared to the other patients (35.3 vs 1.2 %, p = 0.0006 and 80 vs 16.7 %, p = 0.02). Prevalence of PsA, for CASPAR and ASAS peripheral criteria, was of 17 %. Five percent of patients met ASAS axial criteria, while 6 % met New York criteria. Worth noting, few patients without signs or symptoms of arthritis had radiological changes, both axial and peripheral, precluding a proper classification.
23873885 Imaging in juvenile idiopathic arthritis (JIA): an update with particular emphasis on MRI. 2013 Nov Juvenile idiopathic arthritis (JIA) is a heterogeneous condition encompassing all forms of chronic arthritis of unknown origin and with onset before 16 years of age. During the last decade new, potent therapeutic agents have become available, underscoring the need for accurate monitoring of therapeutic response on both disease activity and structural damage to the joint. However, so far, treatment efficacy is based on clinical ground only, although clinical parameters are poor markers for disease activity and progression of structural damage. Not so for rheumatoid arthritis patients where the inclusion of radiographic assessment has been required by FDA to test the disease-modifying potential of new anti-rheumatic drugs. In imaging of children with JIA there has been a shift from traditional radiography towards newer techniques such as ultrasound and MRI, however without proper evaluation of their accuracy and validity. We here summarize present knowledge and discuss future challenges in imaging children with JIA.
24078675 Loss of phosphatase and tensin homolog (PTEN) in myeloid cells controls inflammatory bone 2015 Jan OBJECTIVE: Local bone destruction in rheumatic diseases, which often leads to disability and severely reduced quality of life, is almost exclusively mediated by osteoclasts. Therefore, it is important to understand pathways regulating the generation of osteoclasts. Here, we analysed the impact of the Phosphoinositide-3-Kinase (PI3K)/Phosphatase and tensin homolog (PTEN) axis on osteoclast generation and bone biology under basal and inflammatory conditions. METHODS: We analysed osteoclastogenesis of wildtype (wt) and PTEN(-/-) cells in vitro and in vivo, pit resorption and qPCR of osteoclasts in vitro. Mice with a myeloid cell-specific deletion of PTEN and wt littermate mice were investigated by bone histomorphometry and clinical and histological assessment in the human tumour necrosis factor (TNF)-transgenic (hTNFtg) arthritis model. RESULTS: We show that myeloid-specific PTEN(-/-) mice display increased osteoclastogenesis in vitro and in vivo compared to wt mice. Loss of PTEN did not affect the generation or survival of osteoclast precursor cells. However, PTEN deficiency greatly enhanced receptor activator of nuclear factor κ-B ligand (RANKL)-induced expression of the master transcription factor of osteoclastogenesis, nuclear factor of activated T-cells, cytoplasmic 1 (NFATc1), resulting in markedly increased terminal differentiation of osteoclasts in vitro. We also observed increased osteoclastogenesis under inflammatory conditions in the hTNFtg mouse model of arthritis, where hTNFtg/myeloid-specific PTEN(-/-) mice displayed enhanced local bone destruction as well as osteoclast formation in the inflamed joints. The extent of synovial inflammation, however, as well as recruitment of osteoclast precursor cells was not different between wt and myeloid-specific PTEN(-/-) mice. CONCLUSIONS: These data demonstrate that loss of PTEN and, therefore, sustained PI3-Kinase signalling in myeloid cells especially, elevates the osteoclastogenic potential of myeloid cells, leading to enhanced inflammatory local bone destruction. Therefore, although our study allows no direct translational conclusion since we used a conditional knockout approach, the therapeutic targeting of the PI3-Kinase pathway may be of benefit in preventing structural joint damage.
24438039 The TRACTISS protocol: a randomised double blind placebo controlled clinical trial of anti 2014 Jan 17 BACKGROUND: Primary Sjögren's Syndrome (PSS) mainly affects women (9:1 female:male ratio) and is one of the commonest autoimmune diseases with a prevalence of 0.1 - 0.6% of adult women. For patients with PSS there is currently no effective therapy that can alter the progression of the disease. The aim of the TRACTISS study is to establish whether in patients with PSS, treatment with rituximab improves clinical outcomes. METHODS/DESIGN: TRACTISS is a UK multi-centre, double-blind, randomised, controlled, parallel group trial of 110 patients with PSS. Patients will be randomised on a 1:1 basis to receive two courses of either rituximab or placebo infusion in addition to standard therapy, and will be followed up for up to 48 weeks. The primary objective is to assess the extent to which rituximab improves symptoms of fatigue and oral dryness. Secondary outcomes include ocular dryness, salivary flow rates, lacrimal flow, patient quality of life, measures of disease damage and disease activity, serological and peripheral blood biomarkers, and glandular histology and composition. DISCUSSION: The TRACTISS trial will provide direct evidence as to whether rituximab in patients with PSS leads to an improvement in patient symptoms and a reduction in disease damage and activity. TRIAL REGISTRATION: UKCRN Portfolio ID: 9809 ISRCTN65360827.
25523463 Surrogate light chain expression beyond the pre-B cell stage promotes tolerance in a dose- 2015 Feb While surrogate light chain (SLC) expression is normally terminated in differentiating pre-B cells, co-expression of SLC and conventional light chains has been reported in a small population of autoreactive peripheral human B cells that accumulate in arthritic joints. Despite this association with autoimmunity the contribution of SLC expressing mature B cells to disease development is still unknown. We studied the pathogenicity of SLC(+) B cells in a panel of mice that transgenically express the SLC components VpreB and λ5 throughout B cell development. Here we report that although VpreB or λ5 expression mildly activated mature B cells, only moderate VpreB expression levels - in the absence of λ5 - enhanced IgG plasma cell formation. However, no autoantibody production was detectable in VpreB or λ5 transgenic mice and VpreB expression could not accelerate autoimmunity. Instead, moderate VpreB expression partially protected mice from induced autoimmune arthritis. In support of a tolerogenic role of SLC-transgenic B cells, we observed that in a dose-dependent manner SLC expression beyond the pre-B cell stage enhanced clonal deletion among immature and transitional B cells and rendered mature B cells anergic. These findings suggest that SLC expression does not propagate autoimmunity, but instead may impose tolerance.
23124734 The co-occurrence of Hashimoto thyroiditis in primary Sjogren's syndrome defines a subset 2013 May To evaluate in a cohort of 100 consecutive patients affected by primary Sjogren's syndrome (pSS) the incidence of Hashimoto thyroiditis (HT) and to compare the clinical features and the laboratory parameters of patients affected by pSS with and without concomitant HT. In 100 consecutive patients affected by pSS, the occurrence of other autoimmune diseases was recorded and a full examination of thyroid function obtained. HT was associated with pSS in 27 cases. The comparison between pSS cases with and without HT showed that only patients with isolated pSS had low C4 level [p = 0.032, OR (IC 95 %) 230 (13.13-4,046)]. In addition, only patients affected by pSS without HT had evidence of cryoglobulins, cutaneous vasculitis with palpable purpura, peripheral neuropathy, and development of lymphoma, although all these manifestations were observed in a 4.1-8.2 % of the cases, without reaching statistical significance. The association of HT in patients suffering from pSS defines a subset of patients with milder disease and normal C4 levels.
25068682 Measurement and evaluation of isotypes of anti-citrullinated fibrinogen and anti-citrullin 2014 Sep OBJECTIVES: Our objective was to evaluate sera from juvenile idiopathic arthritis (JIA) patients to investigate the presence of isotypes (IgA, IgG, IgM) of anti-citrullinated fibrinogen and anti-α-enolase antibodies and their association with rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibody isotypes. METHODS: Sera were obtained from 89 JIA patients and were measured for isotypes (IgA, IgM) of anti-citrullinated and native fibrinogen and anti-α-enolase antibodies by enzyme-linked immunosorbent assay. Results were compared to anti-CCP antibody isotypes and RF isotypes, in addition to previously measured IgG anti-citrullinated fibrinogen and α-enolase antibodies. RESULTS: IgA anti-citrullinated fibrinogen antibodies were positive in 20 JIA patients and IgM in 11 JIA patients. Two IgM RF-positive polyarthritis patients were positive for all 3 isotypes of anti-citrullinated fibrinogen antibodies. IgA anti-citrullinated α-enolase antibodies were positive in 7 JIA patients and IgM in 9 JIA patients. IgA and IgG anti-citrullinated fibrinogen antibodies were commonly found in JIA patients positive for IgG anti-CCP antibodies and IgM RF. IgG anti-CCP antibodies and IgM RF levels were significantly higher in JIA patients with 3 or more anti-citrullinated autoantibody isotypes present. CONCLUSIONS: We have shown that isotypes of anti-citrullinated fibrinogen and α-enolase can be found in the serum of children with JIA of all onset types. Citrullinated autoantibody isotype diversity may indicate a more severe disease course in JIA patients.
24124913 Refractory rheumatoid factor positive polyarthritis in a female adolescent already sufferi 2013 Oct 14 Type 1 diabetes mellitus may be associated with many autoimmune diseases with the common autoimmune pathogenesis. We describe the case of a girl suffering from Type 1 diabetes mellitus and autoimmune Hashimoto's thyroiditis since the childhood and, due to the onset of Juvenile Idiopathic Arthritis during adolescence, for three years practiced therapy with an anti-TNF drug, etanercept . Currently her inflammatory markers are normal, arthritis is inactive and diabetes is well controlled. During the treatment with anti-TNF drug we observed a significative reduction of insulin dose, probably due to an increased tissue sensitivity secondary to the suppression of the activity of TNF-alpha. Several clinical trials that have evaluated the effect of immunomodulatory agents in diabetic patients, especially in those with recent onset of disease, were already performed but further studies of longer duration on a larger population are needed to assess the role of biologic drugs and immunotherapy in this group of patients.
23588594 MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. 2013 Aug Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV mutations in children with juvenile idiopathic arthritis (JIA). In this study, children with JIA, who had no typical symptoms of FMF, were screened for the mutations in exons 2 and 10 of the MEFV gene by direct sequencing. A total of 96 children, 56 girls (58.3%), with a median age of 11 years (2-18 years) were included. Patients were classified according to JIA subgroups as oligoarthritis in 43 (44.8%), rheumatoid factor-negative polyarthritis in 22 (22.9%), rheumatoid factor-positive polyarthritis in 2 (2.1%), systemic arthritis in 12 (12.5%) patients, enthesitis-related arthritis in 16 (16.7%), and psoriatic arthritis 1 (1.04%). A total of 31 children (32.3%) had MEFV mutations: 25 heterozygous, 2 homozygous, and 4 compound heterozygous. There were 22 (11.4%) exon 10 mutations (M694V, R761H, K695R, V726A, R653H) and 15 (7.8%) exon 2 mutations (E148Q, G304R, E148V, T267I). The allele frequencies of MEFV mutations were found to be 19.27%, which is higher than the general population [p = 0.03, (odds ratio (OR):1.93, 95% confidence interval (CI): 1.09-3.41)]. MEFV mutation carrier rates were significantly higher in antinuclear antibody (ANA) negative than in ANA positive patients [p = 0.01, (OR: 0.25, 95% CI: 0.085-0.74)] and in males than in females [p = 0.001, (OR: 0.197, 95% CI: 0.078-0.495)]. Also, there was a statistically significant difference between the MEFV mutation carrier rates and the subgroups of JIA (p = 0.005). CONCLUSION: These findings suggest that mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.