Search

Background Juvenile Idiopathic Arthritis (JIA) is a chronic childhood arthritis with onset before age of 16 and has a significant degree of morbidity that negatively affects quality of life. Uveitis, which is defined as the inflammation of the iris, ciliary body and choroid, is the most common cause of morbidity of JIA. This study was planned to collect data from a Turkish cohort to provide the initial national prevalence data of patients with JIA. Objectives The objective of this study was to determine the frequency of JIA subtypes in Turkey. We also aimed to assess the frequency and characteristics of eye involvement in JIA. Methods This national, non-interventional, multicenter, observational study was conducted in a retrospective manner in four study centers which were main referral pediatric rheumatology clinics across Turkey. Data on patient demography, medical history, JIA disease characteristics, laboratory data, cases of JIA-associated uveitis, JIA treatment history and data on other comorbidities were collected from a cohort of 500 patients. Results Oligoarthritis (n=194, 38.8%) was the most common JIA disease characteristic in this study cohort. The frequency of the subgroups was as follows: Enthesitis-Related Arthritis (ERA) in 23.2% (n=116), polyarthritis in 15.6% (n=78), systemic arthritis in 12.2% (n=61), psoriatic arthritis in 5.2% (n=26), idiopathic arthritis in 2.8% (n=14) and polyarthritis (RF+) in 2.2% (n=11) of patients were identified. The most frequently prescribed treatment for JIA was methotrexate (n=384, 76.8%). A total of 85 comorbidities were reported, and the most frequently reported comorbidity was Familial Mediterranean Fever (FMF) (n=63, 12.6%). The number of patients with JIA-associated uveitis diagnosis was 34 (6.8%), and the mean duration of uveitis was 3.2 (±2.3) years. The mean duration between the initial JIA diagnosis and diagnosis of uveitis was 1.8 (±1.9) years. Among 34 patients with uveitis, 45 eye involvements were identified; left eye, right eye and both eyes were affected in 5, 8 and 16 patients, respectively. Five patients (14.7%) had uveitis-related complications that required surgical intervention. Conclusion The main difference from the European Caucasian population is the lower frequency of oligoarticular JIA and higher frequency of ERA in Turkish JIA patients. Uveitis was also somewhat lower than expected. Geographic and ethnic factors, that may affect these differences, need further investigation. References [1] Barut K, Adrovic A, Sahin S and KasapCopur o. Juvenile Idiopathic Arthritis. Balkan Med J. 2017;34:90-101. [2] Demirkaya E, Ozen S, Bilginer Y, et al. The distribution of juvenile idiopathic arthritis in the eastern Mediterranean: results from the registry of the Turkish Paediatric Rheumatology Association. Clin Exp Rheumatol. 2011;29:111-6 Acknowledgement This JUPITER study is a collaborative study. Disclosure of Interests Sezgin Sahin: None declared, Ceyhun Acari: None declared, Hafize Emine Sonmez: None declared, Fatma Zehra Kilic: None declared, Erdal Sag: None declared, Hatice Adiguzel Dundar: None declared, Amra Adrovic: None declared, Selcan Demir: None declared, Kenan Barut: None declared, Yelda Bilginer: None declared, Betul Sozeri: None declared, Erbil Unsal Grant/research support from: Novartis, AbbVie, Roche, KoCak Pharma, Speakers bureau: Novartis, AbbVie, Roche, KoCak Pharma, Seza ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche, Ozgur Kasapcopur: None declared

Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by ADA2 mutations. Objectives We aimed to investigate the characteristics of DADA2 patients along with the ADA2 enzyme levels. Methods 24 DADA2 patients who admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments were included. All exons of the ADA2 gene were screened by Sanger sequencing in all DADA2 patients. Serum ADA2 enzyme activity was measured by modified spectrophotometric method. Results 24 DADA2 patients were included; Group 1, 14 DADA2 patients with polyarteritis nodosa (PAN)-like phenotype; Group 2, 9 patients with Diamond-Blackfan anemia (DBA)-like features and one with immune deficiency. 14 PAN-like DADA2 patients did not have the typical thrombocytosis seen in classical PAN. Inflammatory attacks were evident in only Group 1 patients. Serum ADA2 was low in all DADA2 patients except one who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 levels between PAN-like and DBA-like DADA2 patients (Figure 1). ADA2 activities of heterozygote family members were about half the level of the control subjects. However, in heterozygote DADA2 patients, serum ADA2 levels were as low as the ones of homozygote DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and in the catalytic domain in Group 2 patients (Table 1). Conclusion We suggest that enzyme activity of ADA2 should be assessed along with genetic analysis since there are heterozygote patients with absent enzyme activity. Our data confirms a possible genotype phenotype correlation where dimerization domain mutations are associated with a PAN-like phenotype whereas catalytic domain mutations are associated with hematological manifestations. References [1] Navon Elkan P, et al. Mutant ADA2 in a PAN vasculopathy. N Engl J Med 2014;370(10):921-931 [2] Zhou Q, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370(10):911-920 Acknowledgement This study was supported by Scientific and Technological Research Council of Turkey (TUBITAK) with grant numbers of 315S192. Prof. Nurten Akarsu performed the molecular studies of DBA patients and special thanks to her for great support. Disclosure of Interests Ezgi Deniz Batu: None declared, Ekim Z. Taskiran: None declared, Hatice Asuman Ozkara: None declared, Sule Unal: None declared, Naz Guleray: None declared, Abdulsamet Erden: None declared, Omer Karadag: None declared, Fatma Gumruk: None declared, Mualla Cetin: None declared, Yelda Bilginer: None declared, Hafize Emine Sonmez: None declared, Deniz Cagdas Ayvaz: None declared, Ilhan Tezcan: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Autoinflammatory diseases (AID) are characterized by a dysregulation of innate immunity leading to uncontrolled inflammation. The treatment in AID is critical to control the disease activity, to prevent complications, and to improve the health-related quality of life. Biologic drugs have revolutionized the treatment and outcomes in AID. Objectives Herein we aim to present the clinical characteristics of children to whom biologic drug therapy was initiated for the management of AID. Methods A web-based registry called the Helios Registry (Hacettepe univErsity eLectronIc research fOrmS) has been formed to evaluate the data of all children on biologic treatment. We have been enrolling patients since August 2018 retrospectively and prospectively. We have analyzed the data about the general characteristics of the patients, treatment, the biologic drug used, and adverse effects. Only the patients with the following diagnoses were included: systemic juvenile idiopathic arthritis (SJIA), familial Mediterranean fever (FMF), cryopyrin associated periodic syndrome (CAPS), and chronic recurrent multifocal osteomyelitis (CRMO). Results Of 60 patients included, 19 had FMF (31.7%), 24 had sJIA (40%), 10 had CAPS, (16.7%), and 7 had CRMO (11.7%). Their median age was 10.7 (2-20) years old and disease duration was 2.8 (0-6) years, at the time of biologic drug initiation. 58.3% were currently on canakinumab, 20% anakinra, 10% tocilizumab, 10% etanercept, and 1.7% adalimumab. 63.3% of our patients had previously used at least one other biologic drug. The rate of glucocorticoid use before biologic treatment was 56.6%. The median duration of glucocorticoid treatment after initiating biologic drugs was 7.4 months. 56 (93%) patients achieved remission on biologic therapy. There were 15 patients (25%) who received tuberculosis prophylaxis due to positive tuberculin skin test (diameter≥10 mm) and there was no Quantiferon test positivity. Thirteen adverse events (AE) had been noted. 2 of them were serious events as anaphylaxis due to tocilizumab infusions. The rest of the adverse events were mild thrombocytopenia (n=2), varicella infection (n=1), and local side effects (n=8). The median number of the infections per year was one and there were no death or malignancy. Conclusion The most commonly prescribed biologic drugs were IL-1 inhibitors especially for patients with IL-1-mediated AID (FMF, CAPS, and SJIA). The biologic treatment in AID is effective and there were no serious side effects. References [1] Ozen S, Bilginer Y. A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin. Nat Rev Rheumatol. 2014 Mar;10(3):135-47. doi:10.1038/nrrheum.2013.174 Disclosure of Interests Selcan Demir: None declared, Ezgi Deniz Batu: None declared, Fuat Akal: None declared, Erdal Sag: None declared, Ummusen Kaya Akca: None declared, Elif Arslanoglu: None declared, Emil Aliyev: None declared, Kubra Yuksel: None declared, Armagan Keskin: None declared, Yelda Bilginer: None declared, Seza ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting small or medium arteries with a negative ANCA serology and no evidence of glomerulonephritis. Objectives The aim of this study was to evaluate the choroid with optical coherence tomography (OCT) in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2). Methods The study included all PAN and DADA-2 patients (n=15), examined between June 2017 and September 2018, and an age and gender-matched control group (n=15). After ocular examination, choroidal images taken with sd-OCT (Heidelberg Spectralis) were evaluated with regard to choroidal thickness (ChT) at five points (750 and 1500 microns from the center of the fovea both in the temporal, nasal quadrant and under the fovea), total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA) and choroidal vascularity index (CVI). Results None of the patients had active ocular complaints or findings. The mean (±SD) age was 8.4 ± 3.69 years. ChT at 3 points, TCA, LA, and SA were found to be higher in patients with PAN and DADA-2. The CVI values were similar in both groups. No correlations were found between the OCT findings, activity score index (PVAS) and the biochemical parameters (Erythrocyte sedimentation rate, leukocyte, C-Reactive Protein). Conclusion The results of this study showed that the choroid was thicker in patients with PAN and DADA-2 than in the control group, suggesting that PAN and DADA-2 may affect the choroid. Ophthalmologic evaluation is important in PAN and DADA-2 patients, even in the absence of relevant complaints. References [1] Ozen S, Anton J, Arisoy N, et al. Juvenile polyarteritis: results of a multicenter survey of 110 children. J Pediatr. 2004;145(4):517-522. [2] Kur J, Newman EA, Chan-Ling T. Cellular and physiological mechanisms underlying blood flow regulation in the retina and choroid in health and disease. Prog Retin Eye Res. 2012;31(5):377-406. Acknowledgement None Disclosure of Interests Hafize Emine Sonmez: None declared, Abdullah Agin: None declared, Sibel Kadayifcilar: None declared, Ata Baytaroglu: None declared, Ozge Deliktas: None declared, Selcan Demir: None declared, Yelda Bilginer: None declared, Bora Eldem: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Familial Mediterranean Fever (FMF) is a periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants.The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common etiological pathway. Objectives We aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort. Methods We retrospectively evaluated the medical records of FMF patients who were followed up at Department of Pediatric Rheumatology in Hacettepe University between 2000 and 2015. This study was approved by the Research Ethics Committee and was conducted in accordance with the Declaration of Helsinki. The diagnosis of FMF was made according to Tel Hashomer diagnosis criteria for patients who applied prior to April 2009 and to the Turkish FMF pediatric diagnosis criteria after April 2009. The FMF patients who had homozygous or compound heterozygous mutations were included in the study. Comorbidities associated with FMF were divided into three groups; associated with increased inflammation, associated with FMF and incidental. Results A total of 1999 patients were enrolled in the study. Of all 1999 FMF patients, 636 were children (31.8%), 1029 were males (51.4%), with a mean age of 31.60±16.01 years. The mean follow up time was 4.50±3.99 years (median:3.84 range from 0.21-29.4 years). 880 of 1999 (44%) FMF patients had homozygous MEFV gene mutation, the most common mutation was M694V homozygous. The remaining were compound heterozygous. 656 patients (32.8%) had one or more than one comorbidity associated with FMF. Ankylosing spondylitis was the most common comorbidity associated with increased inflammation while the most common comorbidity in FMF related comorbidities was renal amyloidosis. The frequency of ankylosing spondylitis, henoch schonlein purpura, juvenile idiopathic arthritis, polyarteritis nodosa (PAN), multiple sclerosis (MS) and Behcet’s disease were increased in patients with FMF when compared to those in the literature. Systemic lupus erythematosus was observed less frequently in the patients with FMF than in the population. While the increase in the frequency of MS was 3.3 times, the frequency of PAN was increased 110 times. Conclusion This study shows that FMF is a hereditary disease associated with significant comorbidity. We also confirm that inflamatory and rheumatic diseases are more common in FMF. Disclosure of Interests Ummusen Kaya Akca: None declared, Banu Balci Peynircioglu: None declared, Zehra Serap Arici: None declared, Edibe Avci: None declared, Zulfiye Yeliz Akkaya Ulum: None declared, Engin Yilmaz: None declared, Yelda Bilginer: None declared, Seza ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Oligoarticular Juvenile idiopathic arthritis (O-JIA) is a common inflammatory joint disease in children, driven by continuous local T-cell activation.[1] T cell activation is counter-balanced via signals generated by co-inhibitory receptors (co-IRs) such CTLA-4, PD-1, LAG-3, and TIM-3.[2] Objectives Here we identify the role of co-IRs in the pathogenesis of O-JIA. Methods Paired synovial fluid (SF) and plasma, PBMCs and SFMCs, were obtained from O-JIA patients together with clinical data (n=14). Plasma from healthy controls (HC, n=14); paired SF and plasma from 5 non-arthritis juvenile orthopedic patients (OC, n=5) served as controls. Soluble levels of co-IRs were measured by ELISA and their cellular expression by flow cytometry. Spontaneously differentiated fibroblast like synoviocytes (FLS) from SFMCs were co-cultured with autologous PBMCs/SFMCs and used as an ex-vivo disease model. Functional effects of co-IRs were evaluated via blocking them with checkpoint inhibitors in these ex-vivo disease models. Results In O-JIA patients, increased levels of sPD-1, sLAG-3 and sTIM-3, but not sCTLA-4, were present in the SF compared with plasma. (Figure 1A) There was a close correlation between sPD-1 levels in the plasma and SF (r=0.65, p=0.029). In plasma, sTIM-3 levels correlated with sPD-1 levels (r=0.84, p=0.001) and sLAG-3 levels (r=0.68, p=0.021). In the SF, there was a significant correlation between sLAG-3 levels and sPD-1 levels (r=0.54, p=0.047). None of the soluble co-IR levels correlated with disease activity scores. Plasma and SF levels of sLAG-3 and sTIM-3 were higher in O-JIA patients when compared with HC and OC. (Figure 1A) On the CD3+CD4+CD45RO+ T cells, the surface expression of PD-1 (p=0.02), LAG-3 (p=0.001), TIM-3 (p MHC class II expression was induced on FLS when these were co-cultured with autologous PBMCs and SFMCs, together with an increased Monocyte Chemoattractant Protein-1 (MCP-1) production. (Figure 1B) Only addition of neutralizing anti-LAG3 antibodies significantly increased the MCP-1 production in PBMC monocultures (p Conclusion This is the first report studying the effects of different co-IRs in O-JIA. Both the soluble levels and the surface expressions of the co-IRs were higher at the site of inflammation in O-JIA. SFMCs and PBMCs of O-JIA patients are not exhausted, based on their ability to respond to CD3/CD28 activation. This is opposite to what has been shown in adult inflammatory arthritis.[3] Co-cultures of autologous FLSs and PBMCs/SFMCs may serve as an ex-vivo arthritis model to perform functional analysis. LAG-3 stands out among the co-IRs and might play a role in O-JIA pathogenesis and a potential therapeutic option for O-JIA. References [1] Wedderburn, L.R., et al., Int Immunol, 2001. 13(12): p. 1541-50. [2] Wherry, E.J. and M. Kurachi, Nat Rev Immunol, 2015. 15(8): p. 486-99. [3] Frenz, T., et al., J Allergy Clin Immunol, 2016. 138(2): p. 586-589e10. Acknowledgement This work was supported by a research grant from FOREUM Foundation for Research in Rheumatology Disclosure of Interests Erdal Sag: None declared, Selcan Demir: None declared, Morten Aagard Nielsen: None declared, Malene Hvid: None declared, Egemen Turhan: None declared, Yelda Bilginer: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche, Bent Deleuran: None declared

Background Chronic physical illnesses may disrupt school attendance which possibly causes academic and social problems in children. Decreased school attendance and poor educational performance are shown to be related to poor self-esteem (1). In addition, family life is affected by the consequences of chronic diseases. Family reinforcement has an important effect on children’s behaviors and function (2). In this psychosocial combination, daily routines like school attendance may be affected by family and children’s behavior to disease symptoms. Objectives The aim of this study was to compare the reasons for not going to school between children with juvenile idiopathic arthritis and their families. Methods The study included 181 juvenile idiopathic arthritis children who do not attend school and their families who applied to Hacettepe University, Faculty of Medicine, Department of Pediatric Rheumatology. The reasons for not attending school was assessed with one of the questions of Juvenile Arthritis Biopsychosocial Questionnaire (JAB-Q)(3) with three answers. Functional status of the children was assessed with the functional score of JAB-Q and Child Health Assessment Questionnaire (CHAQ) and psychosocial status with the psychosocial score of JAB-Q. Mean and standard deviations were used for descriptives and Chi-Square test was used to compare the family and children responses. Results Mean age of children was 12,65±3,736 and mean scores of CHAQ, JAB-Q function and JAB-Q psychosocial were 0,48±0,59, 4,36±7,7 and 13.74±8,13, respectively (Table 1). Children and families gave the same answer with%92,4 to the question about the reason for not attending school (Table 2). There wasn’t any difference between children’s and family’s answers (p>0,05). Functional status of children was good according to JAB-Q and CHAQ, and psychosocial status was good according to JAB-Q. Conclusion Child’s psychosocial adjustment is likely to be related with school attendance. When the attendance decreases, problems such as social functioning and isolation can occur. The fact that families and children agreed on the reasons about not to go to school but their functional and psychosocial status were good may have been due to different reasons. It was thought to normalize and encourage children to go to school. In addition, families should motivate their children with positive reinforcements. References [1] C Sturge, M E Garralda, M Boissin, C J Dore, P Woo; School attendance and juvenile chronic arthritis., Rheumatology, Volume 36, Issue 11, 1 November 1997, Pages 1218–1223 [2] Catherine Cant Peterson, Tonya Mizell Palermo; Parental Reinforcement of Recurrent Pain: The Moderating Impact of Child Depression and Anxiety on Functional Disability, Journal of Pediatric Psychology, Volume 29, Issue 5, 1 July 2004, Pages 331–341, https://doi.org/10.1093/jpepsy/jsh037 [3] UNAL, Edibe, et al. A new biopsychosocial and clinical questionnaire to assess juvenile idiopathic arthritis: JAB-Q. Rheumatology international, 2018, 1-8. Disclosure of Interests None declared

Background Behcet’s disease (BD) is an autoinflammatory disorder which may present with multi-systemic involvements including the vascular, cutaneous, articular, gastrointestinal, and/or central nervous systems (CNS). CNS involvement appears in two main groups: parenchymal or non-parenchymal. Neurological symptoms in children and adolescents can be confused with many other disorders and may be the initial symptom of BD. Objectives To report our experiences of the juvenile Behcet’s Disease patients with cerebral venous sinus thrombosis (CVST) and to review previous studies reporting the clinical characteristics and outcomes of Juvenile Behcet’s Disease with CVST. Methods The patients who met Pediatric Behcet’s Disease (PEDBD) classification criteria for juvenile Behcet’s Disease from 3 referral centers in Turkey were reviewed retrospectively. Disease activity was assessed by BD current activity form (BDCAF). A systematic review of literature of all published data was conducted. Results The study group consisted of 12 juvenile BD patients with CVST. At the time of CVST diagnosis, the most common symptom was headache (%100), followed by vomiting (25%), blurred vision (16.6-7%), and disturbances in eye movements (16.7%). Six (50%) patients presented with sinus venous thrombosis as an initial symptom. Transverse sinus was the most frequently affected sinus (9/12, 75%) followed by superior sagittal sinus (8/12, 66.6%) and sigmoid sinus (1/12, 8.3%). The median (minimum-maximum) BDCAF was 6 (5-8). Four children (33.3%) had another venous thrombosis apart from CVST. All patients received pulse methylprednisolone for three consecutive days continued with oral prednisolone. Steroid treatment was tapered and discontinued minimum in six months. Eleven patients received azathioprine concomitant to steroid treatment at the time of CVST. All the patients received anticoagulant therapy concomitantly. Only one patient had relapse. Median (min-max) follow-up period was 4 years (1-10). In the literature review, we identified nine articles, describing 35 pediatric CVST patients associated with BD. Thirty patients achieved remission, while five patients had residual neurologic deficit. Conclusion Further multicenter studies with more patients and prospective follow-up may help us to understand the whole spectrum in these patients. References [1] Behcet, H., uber rezidivierende, aphtose, durch ein Virus verursachte Geschwure am Mund, am Auge und an den Genitalien. Dermatologische Wochenschrift, 1937(105): p.1152-63. [2] Metreau-Vastel, J., et al., Neurological involvement in paediatric Behcet’s disease. Neuropediatrics, 2010. 41(5): p.228-34. Disclosure of Interests Selcan Demir: None declared, Ceyhun Acari: None declared, ozge Basaran: None declared, Erdal Sag: None declared, Kader Karli Oguz: None declared, Yelda Bilginer: None declared, Erbil Unsal Grant/research support from: Novartis, AbbVie, Roche, Kocak Pharma, Speakers bureau: Novartis, AbbVie, Roche, Kocak Pharma, Seza ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Colchicine has been used in the treatment of Familial Mediterranean Fever (FMF) since 1972. Apart from the inhibiting mitosis in all cells, colchicine has an anti-inflammatory effect by inhibiting activation and migration of neutrophils. Colchicine is a safe drug at recommended doses, but it can cause rare side effects including hematological findings such as lymphopenia, thrombocytopenia and neutropenia. Objectives In this study we aimed to define the adverse effect of colchicine on platelet function and its clinical relevance. Methods A total of 220 FMF patients between June 2016-2017, followed at Hacettepe University Pediatric Rheumatology Department and were on colchicine treatment for at least one year, were included to the study. Results Among the selected 220 FMF patients, 100 of them (54% female) described hematological symptoms when questioned in detail. The mean age of these patients was 11.74 ± 4.86 years. The mean cumulative colchicine exposure was 5.7±3.8 years. The most common referral symptom was frequent epistaxis (79%) followed by easy bruising (69%), and menstrual disorder including prolonged or heavy menstrual bleeding (21.8% among female patients). Among these 100 patients, 36 of them had prolonged bleeding time and impaired platelet aggregation test. Patients who had abnormal platelet function tests (the group with abnormal bleeding time) were receiving higher colchicine doses (median 0.05 vs 0.03 mg/kg/day; p:0.001) compared to the patients who had normal platelet function tests (bleeding time normal group) However there were no significant difference in terms of cumulative colchicine exposure (median 6.5 vs 4.5 years; p:0.07) and total platelet counts (median 288500 vs 279000/mm3; p:0.61). Patients with abnormal platelet function tests also had more epistaxis (47% vs 7%; p Conclusion In our study, we have shown prolonged bleeding time for the first time in the literature. Colchicine may cause microtubule inhibition in platelets as well as in other cells and impair platelet function. Further prospective studies are needed to clarify the significance of this side effect. Reference [1] Padeh S, Gerstein M, Berkun Y. Colchicine is a safe drug in children with familial Mediterranean fever. J Pediatr 2012;161(6):1142-1146. Disclosure of Interests Ozlem Satirer: None declared, Selcan Demir: None declared, Erdal Sag: None declared, Armagan Keskin: None declared, Yelda Bilginer: None declared, Sule Unal: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background: Behcet’s Disease (BD) is a multisystemic autoinflammatory disease and the most severe complication of BD is pulmonary artery involvement (PAI). Data regarding treatment and outcomes of pediatric patients with PAI is very limited. Objectives: Herein, we report two pediatric patients with BD presenting with PAI and treated successfully with aggressive immunosuppressive treatment. Methods: Demographic data, clinical manifestations, laboratory and radiological findings, and treatments of patients were documented from patient charts retrospectively. Results: Case 1: A 15-year-old boy was admitted with abdominal pain and fever. An abdominal Doppler ultrasonography (USG) showed stenosis of vena cava inferior (VCI) with a thrombus. Transthoracic echocardiography (TTE) detected that the thrombus extended from VCI to the right atrium. When he started to have hemoptysis, he was referred to our hospital. TTE showed a mass in RV. The computed chest and abdominal tomography angiography (CTA) showed bilateral aneurysmatic dilatation with thrombi in the pulmonary arteries and thrombosis in vena hepatica. The pathergy test was negative and the HLA B5 was negative. According to the ICBD, the patient had been diagnosed as BD due to genital ulcers and vascular involvement. He was given pulse methylprednisolone (MP) 500 mg 3 days along and followed by oral prednisolone 1 mg/kg/day, intravenous cyclophosphamide at a dose of 15 mg/kg every 3 weeks for a total of 6 cycles, and Interferon-α2a (IFN-α2a) 3 times a week. Within one month, hemoptysis and fever disappeared, and CRP values normalized. After a three-month treatment, TTE and CTA revealed that thrombi shrank significantly. The dosage of prednisolone was tapered gradually and stopped 2 years later. Immunosuppressive treatment was continued with adalimumab. The patient has been followed in remission for nearly 6 years. Case 2: A fifteen-year-old boy was referred to our hospital for the evaluation of fever for over 4 months and a thrombus in his right ventricle. He had a medical history with cough, fever, intermittent hemoptysis and weight loss for the past 3 months. Physical examination revealed acne-like rashes over face and back, oral ulcers. A CTA confirmed the thrombus in RV and showed bilateral multiple aneurysms along the pulmonary artery and its branches. According to ICBD, the patient was diagnosed with BD due to having aphthous ulcers, pseudofolliculitis, and vascular involvement. Iv MP (500 mg/day) for 3 days was followed by oral prednisolone 1 mg/kg/day, which was subsequently tapered. Iv cyclophosphamide at a dose of 500 mg was also given every 3 weeks for a total of 6 cycles, followed by oral azathioprine (AZA). Concomitant subcutaneous IFN-α2a was given two times per week for 6 months. Within two weeks, cough and fever disappeared, CRP values normalized. After 1 year the pulmonary artery aneurysm disappeared and cardiac thrombosis resolved. We have been following the patient with AZA for four years without recurrence. Conclusion: We present two pediatric patients with pulmonary involvement of BD. PAI is a life-threatening condition and should be managed with more aggressive medical therapy. Early diagnosis and aggressive immunosuppressive treatment are very important in PAI. We strengthened our treatment with IFN-α2a. There is no data in the literature regarding the use of IFN-α-2a in PAI treatment along with low dose cyclophosphamide. There were no mortality or recurrences within the 6 and 4 years follow up period. An aggressive immunosuppressive therapy leads to better prognosis in this most dreadful complication of BD. References [1] Ozen S, Bilginer Y, Besbas N, Ayaz NA, Bakkaloglu A. Behcet disease: treatment of vascular involvement in children. Eur J Pediatr. 2010;169(4):427-30. Disclosure of Interests: Selcan Demir: None declared, Erdal Sag: None declared, Ummusen Kaya Akca: None declared, Tuncay Hazirolan: None declared, Yelda Bilginer: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Background Behcet’s disease (BD) is a variable vessel vasculitis affecting all sizes of vasculature in both the arterial and venous systems. Children with BD comprises 3-24% of all BD patients. Objectives To compare the demographics, presentation, clinical manifestations, disease activity, and treatment in pediatric Behcet’s disease in Turkey versus Israel. Methods Three centers from Turkey and two centers from Israel participated in this study. The diagnosis of BD was before 16 years of age and based on expert opinion at each center. BD current activity form (BDCAF) was used for assessing disease activity. Results A total of 205 patients were included (165 from Turkey; 40 from Israel). HLA-B51 positivity (68.3% vs 46.2%, p=0.028), male gender (52.1% vs 30%, p=0.012), and skin involvement (especially necrotic folliculitis) (55.2% vs 22.5%, p Conclusion This is the largest cohort of pediatric BD reported to date. The disease manifestations and disease activity significantly differ among pediatric BD patients from Turkey and Israel which emphasizes the effect of the ethnicity on disease phenotype. Reference [1] Kone-Paut I, et al. Consensus classification criteria for paediatric Behcet’s disease from a prospective observational cohort: PEDBD. Ann Rheum Dis 2016;75:958-64. Disclosure of Interests Yonatan Butbul: None declared, Ezgi Deniz Batu: None declared, Hafize Emine Sonmez: None declared, Betul Sozeri: None declared, Nuray Aktay Ayaz: None declared, Limor Baba: None declared, Gil Amarilyo: None declared, Seval Simsek: None declared, Liora Harel: None declared, Serife Gul Karadag: None declared, Yelda Bilginer: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

Biologic drugs (BD) have been game-changers in rheumatic diseases; however, severe hypersensitivity reactions concerning anaphylaxis may limit their use. Desensitisation is a crucial option that is safe and effective to maintain patients on the preferred drug. Herein we report 84 Rapid Drug Desensitisation (RDD) procedures with rituximab and tocilizumab in children with rheumatic diseases.The study was conducted as a retrospective chart review of patients who received tocilizumab or rituximab therapy between January 2010 and December 2018. The results of RDD with tocilizumab and rituximab were documented.The study group consisted of 53 patients (11.6±4.5 years, 67.9% female) with rheumatic disease who had used tocilizumab (64.1%, 1007 infusions) or rituximab (35.8%, 73 infusions). Five patients (14.7%) had experienced anaphylaxis with tocilizumab and two patients (10.5%) with rituximab. Anaphylaxis was grade II in four cases whereas it was grade III in the remaining three children. Skin testing with the culprit BD performed in five children yielded positive results. We performed 65 RDDs with tocilizumab in 3 patients and 19 RDDs with rituximab in two patients. No reactions were recorded in 97.6% of the procedures. We observed one anaphylaxis during the 5th RDD of tocilizumab. After modifying the protocol, this patient continued tocilizumab RDD uneventfully.RDD is a groundbreaking innovation which ensures giving the full target doses while protecting the patient against severe hypersensitivity reactions (HSRs) and anaphylaxis. As BD use increases in childhood, management of HSRs to BD will become more complicated, necessitating an increased need for RDD in clinical practice.

Background Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases characterized by unknown origin arthritis that begins before the age of 16 years (1). Therefore, families are often affected by the disease of children. Parents and children often disagree with assessing different aspects of disease activity in JIA (2). Objectives The aim of this study is to investigate the relationship between children with JIA and their parents’ psychosocial status. Methods A total of 345 children with JIA and their parents were included in the study (n = 690). Juvenile Arthritis Biopsychosocial Questionnaire (JAB-Q) was administered to the subjects (3). The psychosocial status of the individuals was evaluated by this questionnaires. Results The mean age of children included in the study (n = 345) was 12.32 3.76 years. While the median value of the Child Psychosocial score was 10 (min: 0 max: 38), the median value of the Parent Psychosocial score was 6 (min: 0 max: 20). Correlation coefficients and statistical significance were calculated by using the Pearson test. A positive low correlation was found between the psychosocial status of the child and parents (r = 0.273, p Conclusion It was observed that there was a low relationship between the psychosocial status of children and parents. It was concluded that child and parents psychosocial status may be affected by other variables such as high disease activity, school attendance. Further studies are needed in this area including different variables and interaction psychosocial status. References [1] Prakken, B., Albani, S., & Martini, A. (2011). Juvenile idiopathic arthritis. The Lancet, 377(9783), 2138-2149. [2] Garcia-Munitis P, Bandeira M, Pistorio A, Magni-Manzoni S, Ruperto N, Schivo A, et al. Level of agreement between children, parents, and physicians in rating pain intensity in juvenile idiopathic arthritis. Arthritis Rheum 2006;55:177-83. Disclosure of Interests None declared

Background Juvenile Idiopathic Arthritis (JIA) is a chronic childhood autoimmune disease that has significant implications on a childs physical health and psychosocial integration (1). Common symptoms of JIA include pain, joint stiffness, joint swelling, fatigue, and decreased physical function (2,3). Objectives The aim of this study is to investigate the effects of morning stiffness on the psychosocial and functional status of patients with JIA. Methods 387 JIA patients were included in this study. To determine the functional status of the patients functional subscale of The Juvenile Arthritis Biopsychosocial-Questionnaire (JAB-Q) and Childhood Health Assessment Questionnaire (CHAQ) were used. Psychosocial subscale of JAB-Q was used to assess psychosocial status. Finally, morning stiffness was measured as “less than 30 minutes”, “between 30 minutes and 1 hour” and “more than 1 hour”. Results A total of 162 boys and 225 girls participated in the study (Table 1). The effect of morning stiffness on functional and psychosocial status was examined with Kruskal Wallis analysis. There were statistically significant differences between the functional status (CHAQ Total, p=0,001; CHAQ General VAS, p=0.012; CHAQ Pain VAS, 0.001; Function JAB-Q, p 1= 1 hour morning stiffness Conclusion In our study, as a result psychosocial status was not affected by duration of morning stiffness. On the other hand, functionality of patients were getting worse as the duration of morning stiffness increases. It was concluded that psychosocial status should be dealt with independently of functional status, and children should be supported to participate in psychosocial environment such as school attendance, social activities. References [1] Cassidy JT, Petty RE. Chronic arthritis in childhood. In Textbook of pediatric rheumatology. 5th edition.Edited byCassidy JT, Petty RE, Laxer RM, Lindsley CB. Philadelphia, PA: Elsevier Saunders; 2005; 206-60 [2] Stanley LC, Ward-Smith P. The diagnosis and management of juvenile idiopathic arthritis. J Pediatr Health Care 2011;25:191-94. [3] Johnson CJ, Reilly KM, Murray KM. Etanercept in juvenile rheumatoid arthritis. Annals of Pharmacotherapy 2001;35:464-71. Disclosure of Interests None declared

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway. Among RASopathies, NS/LAH (OMIM 607721) is an extremely rare, multiple anomaly syndrome characterized by dysmorphic facial features similar to those observed in Noonan syndrome along with some distinctive ectodermal findings including easily pluckable, sparse, thin, and slow-growing hair. ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation. This is the first report of NS/LAH and ADA2 deficiency in the same individual. We report on a patient presenting with facial features, recurrent infections and ectodermal findings in whom both the clinical and molecular diagnoses of NS/LAH and ADA2 deficiency were established, respectively.

PubMedID: 30607566 Objective: Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitides (AAV) are very rare in childhood with an increased risk of morbidity and mortality. We aimed to evaluate renal prognostic factors in childhood AAV from the perspective of ANCA serotype, histopathological classification, and five-factor score (FFS). Methods: Pediatric AAV patients from 11 referral centers in Turkey had been included to the study. The demographics, clinical findings, AAV subtypes, outcomes, and FFS were evaluated retrospectively. Kidney biopsies were classified histopathologically. Results: Totally, 39 patients were enrolled in the study. Among all patients, 74.4% had renal involvement, 56.4% ear-throat-nose involvement, and 51.3% had musculoskeletal involvement. Proteinase 3 (PR3)-ANCA was positive in 48.7%, and myeloperoxidase (MPO)-ANCA was positive in 30.8%. 69.2% of patients had impaired renal function, and 28.2% had progressed to end-stage renal disease (ESRD) during the follow-up. At the time of diagnosis, FFS was ? 2 in 53.8%. The most common histopathologic classifications were as follows: crescentic type in 40.7% and sclerotic type in 25.9%. Gastrointestinal and renal involvement, MPO-ANCA positivity, serum creatinine levels, and impaired renal function during the follow-up were significantly higher in patients with FFS ? 2, compared to patients with FFS < 2. Patients with FFS ? 2 had more common crescentic, mixed and sclerotic histopathologic findings in biopsies. By logistic regression analysis forward method, the strongest single-risk factor among all the parameters was the initial level of creatinine in patients with ESRD, compared to the other patients (p = 0,007). Conclusions: Evaluation of the FFS, ANCA serology, and the creatinine levels may help to predict renal prognosis. © 2019, IPNA.

Objectives FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants. The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common aetiological pathway. In this study, we aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort. Methods We retrospectively evaluated the medical and genetic records of FMF patients who were followed up by rheumatologists in Hacettepe University for 15 years. The FMF patients who had homozygous or compound heterozygous mutations were included in the study. Comorbidities associated with FMF were divided into three groups: (i) comorbidities directly related to FMF, (ii) comorbidities due to increased innate inflammation, and (iii) comorbidities that were regarded as being incidental. Results A total of 2000 patients with a diagnosis of FMF were enrolled in the study. Among them 636 were children (31.8%) and M694V was the most common mutation in patients with associated inflammatory conditions. The frequency of AS, Iga Vasculitis (Henoch–Schönlein purpura), juvenile idiopathic arthritis, polyarteritis nodosa, multiple sclerosis and Behçet’s disease were increased in patients with FMF when compared with those in the literature. Conclusion This study represents the largest genetically confirmed cohort and compares the frequencies with existing national and international figures for each disease. The increased innate immune system inflammation seen in FMF may be considered as a susceptibility factor since it predisposes to certain inflammatory conditions.

The aim of this study was to review the characteristics of patients with Kawasaki disease (KD) from Turkey and to assess the performance of the Kobayashi score (KS), Harada score (HS), Formosa score (FS), Egami score (ES) and other parameters in predicting intravenous immunoglobulin (IVIG) resistance and coronary artery involvement (CAI) in the Turkish population. Patients who were diagnosed as being in the acute phase of KD at Hacettepe University Faculty of Medicine (Ankara, Turkey) between June 2007 and January 2016 reviewed retrospectively, and those between January 2016 and February 2018 reviewed prospectively, were included in this cohort study. A total of 100 patients with KD were included in this study. Statistical Package for Social Sciences for Windows 22.0 (SPSS Inc, Chicago, IL, USA) was used for statistical analysis. Eighty-five patients (85%) responded to IVIG treatment, whereas 15 (5 female, 10 male) were IVIG resistant. CAI was detected in echocardiography at diagnosis in 31 (31%) (9 female; 22 male) patients. For predicting IVIG resistance, KS, ES, FS, and HS had sensitivity of 82.1%, 26.7%, 30.8%, 69.2% and specificity of 35.7%, 94%, 51.2%, 45.8%, respectively. For the association with CAI occurrence, the sensitivities were 17.2%, 3.3%, 35.7%, 70.4% and the specificities were 78.5%, 88.4%, 49.3%, 49.3% for the aforementioned scores, respectively. The multivariate analysis showed white blood cell (WBC) count [Odd’s ratio (OR) 4.1; 95% confidence interval (CI) 1.26–13.23; p = 0.019] and hematocrit (OR 3.8; 95% CI 1.15–12.4; p = 0.028), as independent predictors of CAI while gamma-glutamyl transferase (GGT) level (OR 5.7; 95% CI 1.73–27.51; p = 0.018) was detected as the only independent predictor of IVIG resistance. This is the first study from Turkey in KD to evaluate the association of the scoring systems for IVIG resistance and CAI. The risk scoring systems in KD did not predict the risk for IVIG resistance and were not associated with CAI in Turkish population.

To report our experiences of the juvenile Behçet's disease (BD) patients with cerebral venous sinus thrombosis (CVST) and to review previous studies reporting the clinical characteristics and outcomes of juvenile BD with CVST.Clinical characteristics and outcomes of paediatric patients with CVST who met the Paediatric Behçet's Disease (PEDBD) classification criteria for juvenile BD from 3 referral centres in Turkey were reviewed retrospectively. A systematic review of literature of all published data was conducted.The study group consisted of 12 juvenile BD patients with CVST. At the time of CVST diagnosis, the most common symptom was headache (100%), followed by vomiting (25%), blurred vision (16.7%), and disturbances in eye movements (16.7%). Six (50%) patients presented with CVST. Transverse sinus was the most frequently affected sinus (9/12, 75%) followed by superior sagittal sinus. The mean (±2SD) BDCAF at the CVST diagnosis was 6 (±3.8). Four children (33.3%) had another venous thrombosis apart from CVST. All patients received pulse methylprednisolone for three consecutive days continued with oral prednisolone. Steroid treatment was tapered and discontinued minimum in six months. Eleven patients received azathioprine concomitant to steroid treatment at the time of CVST. All the patients received anticoagulant therapy concomitantly. Only one patient who did not receive azathioprine relapsed. Median follow-up period was 4 years (IQR: 2-5.4). In the literature review, we identified nine articles, describing 35 pediatric CVST patients associated with BD. Thirty patients achieved remission, while five patients had residual neurologic deficit.Neuroimaging is very important in the diagnosis of NBD. We suggest that treatment with immunosuppressants and steroid treatment is essential to decrease the adverse events of corticosteroids in the pediatric population and decrease relapses. Further multicenter studies with prospective follow-up may guide us in better management of these patients.

Aim In this study, it was aimed to summarize the demographics, and clinical and laboratory findings of children who were diagnosed as having Behcet's disease, and also to determine the efficacy, duration, and adverse effects of the treatments. Material and Methods The records of 34 patients who were diagnosed according to the International Behcet Study Group criteria between 1980 and 2013 in the Department of Pediatric Nephrology and Rheumatology, Hacettepe University Faculty of Medicine, were retrospectively reviewed and all demographic and clinical features were recorded. In the light of these data, the sex and age distribution, clinical and laboratory findings, most commonly preferred treatment approaches, efficacy of treatments, and adverse effects during treatment were analyzed. Results Of the 34 children with Behcet's disease, 18 (53%) were male and 16 (47%) were female, and the mean age was 11.18±3.34 years. There was no significant difference in age distribution of the male and female patients (p

Primary systemic vasculitides of adolescents and young adults AYA are relatively rare diseases, but may be associated with significant morbidity and mortality. We provide an overview of systemic vasculitides and emphasise the problems to be anticipated in adolescence and young adulthood.

Summary Background Immunoglobulin A vasculitis/Henoch-Schonlein purpura (IgAV/HSP) is a leukocytoclasia vasculitis of childhood, predominantly affecting the skin, joints, gastrointestinal tract, and kidneys. The involvement of the penis is rare. Objective We aimed to describe this rare manifestation of IgAV/HSP and to review the previous studies, including similar cases. Methods Clinical data were reviewed for two children of penile involvement of IgAV/HSP in our hospital. More clinical cases were retrieved from the databases of PubMed/MEDLINE and Scopus from database inception to February 1, 2020. Results We presented two boys aged three and five years both of whom had penile lesions after presenting with the typical rash of IgAV/HSP on lower extremities. The penile lesions improved entirely in a few days without treatment in one and with corticosteroid treatment in the other. The literature review revealed 12 articles describing 20 patients with penile involvement of IgAV/HSP. The penile findings were edema, erythema, ecchymosis, purpuric rash, edema, color change, stiffness of the shaft or prepuce, and tenderness. Penile lesions appeared before the purpuric rash of IgAV/HSP in three of 22 patients. The penile involvement could make the diagnosis challenging especially if the penile lesions appear before the typical rash of the disease. The lesions improved entirely in the short term in all patients; in five without treatment in fifteen after corticosteroid or immunosuppressive drug treatment. Conclusions It is important to raise awareness about this rare manifestation among health care providers. It is not clear whether corticosteroid treatment should be initiated for treatment since it seems as a self-limited feature. Treatment with corticosteroids could be considered in the treatment of selected cases especially with systemic involvement. Download : Download high-res image (171KB) Download : Download full-size image Summary Figure . Penile lesion of immunoglobulin a vasculitis/Henoch-Schonlein purpura.

Background:IgA vasculitis (IgAV) is the most common systemic vasculitis of childhood, characterized by palpable purpura, arthritis, gastrointestinal and renal involvement 1. It is a relatively self-limited disease apart from the renal involvement which is associated with the long term morbidity.Objectives:We aimed to define a marker at disease onset to predict the renal involvement.Methods:In this pilot study, we analyzed a targeted panel of vascular inflammation markers (sT2, RAGE, TIE-2, sCD40L, TIE-1, sFlt-1, LIGHT, TNF-a, PlGF, IL6, IL18, IL10 and MCP-1) in the plasma samples of eight patients IgAV at the onset of the disease, before any treatment was initiated. At the time of sample collection, none of the patients had renal involvement; four of these patients subsequently developed nephritis and were defined as the IgAVN group. The levels of the markers were studied by a cytometric bead-based multiplex assay panel according to manufacturer’s instruction (LEGENDplex HU Vascular Inflammation panel 2 (13-plex); catalogue number 740966, Biolegend) and analyzed by Novocyte 3005 flow cytometer.Results:There were no significant differences in gender, age, clinical manifestations, and laboratory findings between IgAV and IgAVN patients (Table 1). sCD40L levels were higher (median 1938.1 vs 754.9 pg/mL, p=0.04) whereas sST2 levels were lower (median 862.8 vs 2302.8 pg/mL, p=0.02) in the patients who developed IgAV nephritis (Figure 1). sRAGE levels were higher and IL18 levels were lower in IgAVN patients but did not reach statistical significance, probably due to the low number of patients. The other parameters did not show any specific pattern.Table 1.IgAV (n=4)IgAVN (n=4)p valueGender2F, 2M1F, 3M0.49Age at disease onset9.0±5.410.3±3.40.68Arthralgia/arthritis50%75%0.49GIS involvement75%50%0.49Haemoglobine (gr/dL)12.4±2.312.3±0.60.95White blood cells, x109/L11150±19338525±14970.08Platelets x109/L290250±87328269250±387410.68Erythrocyte sedimentation rate (mm/hr)10.5±9.121.0±140.26C-reactive protein (mg/dL)0.63±0.031.16±0.960.39Data are given as mean±SDFigure 1.Soluble CD40 ligand (sCD40L) is expressed on platelets and released on activation. It is proinflammatory for endothelial cells and promotes coagulation by inducing expression of tissue factor on monocytes and endothelial cells 2. It was investigated in acute coronary syndrome and was suggested as a risk factor for vascular damage. 2. Furthermore, the levels of sCD40L were shown to be correlated with disease activity in ANCA-associated vasculitis3. Thus in IgAV, sCD40L may be associated with the involvement of the kidney vasculature, which represents the more severe form of the disease. Receptor for advanced glycation end-products (RAGE) is another marker for endothelial damage and vasculitis which was higher in IgAVN, as well.IL33 is expressed by epithelial and endothelial cells and overexpression of IL33 have been shown in large vessel vasculitis 4. sST2 acts as a decoy receptor and inhibits IL33 signalling4. It was interesting to see that the levels of the IL-18 and sST2, which are members of IL-1 family, were lower in IgAVN patients.Conclusion:Although the number of the patients were limited in this pilot study, we suggest that sCD40L and sRAGE might be used to predict the development of renal disease in IgAV patients. Further studies with larger number of patients are needed to confirm our findings.References:[1]Sag E, Batu ED, Ozen S. Childhood systemic vasculitis. Best practice & research Clinical rheumatology 2017;31(4):558-75.[2]Heeschen C, Dimmeler S, Hamm CW, et al. Soluble CD40 ligand in acute coronary syndromes. The New England journal of medicine 2003;348(12):1104-11.[3]Tomasson G, Lavalley M, Tanriverdi K, et al. Relationship between markers of platelet activation and inflammation with disease activity in Wegener’s granulomatosis. The Journal of rheumatology 2011;38(6):1048-54.[4]Desbois AC, Cacoub P, Leroyer AS, et al. Immunomodulatory role of Interleukin-33 in large vessel vasculitis. Sci Rep 2020;10(1):6405.Disclosure of Interests:None declared.

Background:The nail fold video capillaroscopy (NVC) is usually performed on patients with microcirculation problems, such as Raynaud’s phenomenon. It is also used to distinguish between primary and secondary Raynaud’s Phenomenon and identify the scleroderma pattern.Objectives:To describe the acute phase nail fold capillaroscopic findings of adolescents with anorexia nervosa (AN) and bulimia nervosa (BN) and to compare these findings with adolescents diagnosed with primary Reynaud’s phenomenon (RP).Methods:We included 17 AN, 2 BN patients and 6 adolescents with primary RP as a control group. The nail fold video capillaroscopy (NVC) data of three study groups were compared. AN and BN patients were classified according to DSM-5. The participants in these two groups were assessed for the presence of Reynaud’s phenomenon/acrocyanosis and the weight loss history (amount and duration), daily calorie intake, vital signs, hydration status, amenorrhea presence and time, the presence and frequency of compensatory behaviors, and drug usage were recorded. Adolescents with primary RP were diagnosed according to ‘International consensus criteria for the diagnosis of RP. The initial NVC was performed at the acute phase of AN and BN. For AN acute phase is defined as the period where the nutritional rehabilitation has not yet taken place. The NVC analysis was be performed with a digital USB microscopy by an expert blinded to the participant’s clinical status and diagnosis. Eight fingers were evaluated for each patient and average of all fingers’ scores were used as quantitative measures.Results:Among adolescents with AN, 14 of them had enlarged capillaries (capillary diameter 20-50 μm) and 6 of them had mild tortuosity (50μm), 3 of them had microhemorrhages, 4 of them had capillary ramifications, and 1 of them had capillary disorganization which were considered as major capillaroscopic changes. Two adolescents had capillary loss (6 capillaries/mm). None of them had active or late phase scleroderma findings. In the primary RP group, there were minor findings as five adolescents had mild capillary dilation (capillary diameter 20-50 μm), and 5 had mild tortuosity (Table 1.Measurements of capileroscopy findings according to patient groupsAN+RP+n=4AN+RP-n=13BNn=2Primer RP kontroln=6pMicroangiopathy score0.84 (IQR 0.98)0.92 (IQR 0.96)0.710.65 (IQR0.23)0.62•Capillary loss score0.22 (IQR 0.62)0.06 (IQR 0.41)0.150.0 (IQR 0.26)0.58•Capillary ramification score0.18 (IQR 0.25)0.13 (IQR 0.25)0.090.09 (IQR 0.18)0.88•Disorganized capillaries score0.38 (IQR 0.48)0.56 (IQR 0.68)0.460.43 (0.32)0.98Enlarged capillaries score (20-50 μm)0.56 (IQR 0.78)0.31 (IQR 0.72)0.730.58 (IQR 0.42)0.60Giant capillaries score (>50 μm)0.06 (IQR 0.22)0.00 (IQR 0.03)0.180.03 (0.14)0.14Microhaemorrhage score0.000.000.000.010.67Conclusion:Preliminary results of our study suggest that adolescents with AN are at risk for vasculopathy especially during the acute phase of the disease.References:[1]Smith V, et al Autoimmun Rev. 2020 Mar;19(3):102458.[2]American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders (DSM-5). American Psychiatric Pub, ArlingtonAcknowledgements:Muserref Kasap-Cuceoglu and Melis Pehlivanturk-Kizilkan contributed equally.Disclosure of Interests:None declared

Background:Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease whose pathogenesis has not been clearly elucidated.Objectives:To investigate the role of vascular inflammatory factors in the pathogenesis of DADA2, to compare the vascular inflammation profiles of DADA2 patients with different phenotypes, and to compare DADA2 patients with classic polyarteritis nodosa (PAN).Methods:The study included eighteen DADA2 patients, ten PAN patients, and eight healthy controls. Plasma levels of sST2, sRAGE, Tie-2, sCD40L, Tie-1, sFlt-1, LIGHT, TNF-α, PlGF, IL-6, IL-18, IL-10, MCP-1 were studied by cytometric bead-based multiplex assay panel.Results:Among the DADA2 patients, five had hematological manifestations, 13 had vasculitic findings, and accompanying immunological findings were present in seven patients. Nine patients had neurological findings, five of whom had neuropathy. Hematological findings were Diamond-Blackfan anemia-like phenotype in four patients and bicytopenia (anemia and thrombocytopenia) in one patient. Disease characteristics of DADA2 and PAN patients revealed that neurological involvement and livedo reticularis were more frequent in DADA2 patients (p=0.034 and p=0.009, respectively), while myalgia was more common in PAN patients (p:0.001).Plasma levels of Tie-1 and sFlt-1 were higher in the overall DADA2 patients compared to healthy controls and PAN patients (pThere was no significant difference in the levels of vascular inflammation markers between DADA2 patients with vasculitis and hematological involvement except IL-18. The plasma IL-18 levels were higher in the DADA2 patients with hematological findings compared to vasculitic phenotype (p=0.001). Finally DADA2 patients with neuropathy had higher sRAGE concentrations than patients without neuropathy and healthy controls (p=0.03 and p=0.008, respectively).Conclusion:We suggest that the high plasma IL-18 levels may be associated with an activated IFN pathway, the pathogenesis of hematologic manifestations, and unresponsive to anti-TNF treatment. Higher concentrations of Tie-1, Tie-2, sFlt-1, sRAGE, and TNF-α distinguished DADA2 patients with PAN-like features from PAN patients. We identified sRAGE as a potential biomarker of neuropathy in DADA2 patients.References:[1]Pesciotta EN, Lam H-S, Kossenkov A, et al. In-Depth, Label-Free analysis of the erythrocyte cytoplasmic proteome in Diamond Blackfan Anemia identifies a unique inflammatory signature. PLoS One 2015;10(10):e0140036.[2]Haslbeck KM, Bierhaus A, Erwin S, et al. Receptor for advanced glycation endproduct (RAGE)–mediated nuclear factor-κB activation in vasculitic neuropathy. Muscle Nerve 2004;29(6):853-60.Disclosure of Interests:None declared

Background:The severity of COVID-19 symptoms can range from mild to severe. Severe COVID-19 cases with excessive hyperinflammation have many overlap features with multisystem inflammatory syndrome in children (MIS-C).Objectives:We aimed to describe the typical clinical and laboratory features and treatment of children diagnosed with MIS-C and to understand the differences as compared to severe/critical pediatric cases with COVID-19 in an eastern Mediterranean country.Methods:Children (aged Results:A total of 52 patients, 22 patients diagnosed with COVID-19 with severe/critical disease course and 30 patients diagnosed with MIS-C. Although severe COVID-19 cases and cases with MIS-C share many clinical and laboratory features, MIS-C cases had longer fever duration and higher rate of the existence of rash, conjunctival injection, peripheral edema, abdominal pain, altered mental status, and myalgia than in severe cases (pConclusion:Differences between clinical presentations, acute phase responses, organ involvements, and management strategies indicate that MIS-C might be a distinct immunopathogenic disease as compared to pediatric COVID-19. Conjunctival injection and higher CRP and low WBC count seem good diagnostic parameters for MIS-C cases.Disclosure of Interests:None declared

Background:Systemic Lupus Erythematosus (SLE) is the prototype for a systemic autoimmune disease. SLE is a disease of the adaptive immune system where T lymphocyte dysfunction has an important role as well. Checkpoint proteins have become an important topic in the study of Tcell. The balance of T cell co-stimulatory and co-inhibitory receptors is important for the regulation of the adaptive immune system response.Objectives:In this study we aimed to assess the checkpoint proteins in childhood SLE patientsMethods:Fourty-nine jSLE patients together with 15 age- and gender- matched controls were included. Clinical features, disease activity scores and laboratory parameters were recorded both retrospectively and at the time of samplimg. Patient samples were collected at their last visit, Plasma CD25 (IL-2Rα), 4-1BB, B7.2 (CD86), TGF-β1, CTLA-4, PD-L1, PD-1, Tim-3, LAG- 3, Galectin-9 levels were studied by the cytometric bead-based multiplex assay panel according to manufacturer’s instruction (LEGENDplex HU Immune Checkpoint Panel 1 (10-plex); catalogue number 740962, Biolegend) and analysed by Novocyte 3005 flow cytometer. Two-step cluster analysis procedure was conducted over the chosen 7 symptom status and 3 clusters were chosen for the final analysisResults:A total of 49 patients (71.4% female) diagnosed with SLE according to the SLICC criteria and 15 healthy controls (73.3% female) were included in the study. The mean age of the patients was 17.7 ± 2.6 years and the controls was 13.3±1.4 years. The median disease duration was 5.7 years. At the time of sampling fifteen of the patients had a SLEDAI score of zero (no activity), 21 of them had between 1-5 (mild activity), 7 of them had between 6-10 (moderate activity), 5 of them had between 11-19 (high activity), 1 of them had >20 (very high activity).Galectin-9 and PD-L1 were significantly higher in SLE patients. Other checkpoint proteins and IL-2Rα were also higher but did not reach statistical significance. There were significant correlations between SLEDAI and IL-2Rα, Galectin-9 and PDL1. (Figure 1) There were three clinical clusters: Cluster 1 included patients with no major organ involvement, cluster 2 had predominantly haematological involvement (n=16) and cluster 3 (n=11) had predominantly renal involvement. Checkpoint proteins were not different among these three clusters.Figure 1.Table 1.Demographic, Clinical and Laboratory Features of Patients (n=49)Female gender, n (%)35 (%71.4)Mean age at diagnosis, years (mean±SD)12.5±3.3Mean age at the time of inclusion, years (mean±SD)17.7±2.6Duration of illness, years (median/IQR)5.7 (3.0-7.0) yearsActive system involvement at study,n (%) Renal14 (28.5) Skin11 (22.4) Musculoskeletal9 (18.3) Hematologic9 (18.3) Neurologic1 (2.0) Serositis1 (2.0)Laboratory findings (median/minimum-maximum) Hemoglobin, gr/dl12.7 (7.3-18.3) WBC, /mm36.900 (2.600-26.200) Platelet, /mm3252.000 (39.000-529.000) Erythrocyte sedimentation rate, mm/hour10 (1-71) C-reactive protein, mg/dl0.1 (0-21.1) Complement 3, mg/dl87.6 (25.4-186.0) Complement 4, mg/dl15.3 (0-45.8) Anti-ds DNA, IU/ml12.8 (0-741.7) SLEDAI score (mean±SD)4.69±6.69Conclusion:Our data supports that Galectin 9 and IL-2Rα are good markers for disease activity in childhood SLE. We need larger series to evaluate differences between disease clusters in SLE. We failed to show a significant correlation with checkpoint proteins and SLEDAI except for PDL1.References:[1]Sharabi A and Tsokos GC. T cell metabolism: new insights in systemic lupus erythematosus pathogenesis and therapy. Nature reviews Rheumatology 2020; 16: 100-112[2]Nishimura H, Nose M, Hiai H, et al. Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 1999; 11: 141-151.[3]McKinney EF, Lee JC, Jayne DR, et al. T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection. Nature 2015[4]Wherry EJ and Kurachi M. Molecular and cellular insights into T cell exhaustion. Nat Rev Immunol 2015; 15: 486-499Disclosure of Interests:None declared

Background:Crimean Tatars is an ethnic group in Russia. The presence of familial Mediterranean fever (FMF) has been recognized since 2016.Objectives:The study aimed to evaluate the prevalence and clinical features as well as genetic aspects of FMF in children of Crimean Tatar (CT) origin and compare them with a cohort from Turkey.Methods:This retrospective study included all FMF cases in patients of CT origin (n=18) diagnosed in Children’s Regional Hospital in Simferopol since 2016. We included 40 consecutive FMF cases between February-March 2020, diagnosed and followed at Hacettepe University, Ankara, Turkey. All children were less than 18 years old at the time of inclusion. The diagnosis of FMF was based on the EULAR criteria (2019). We excluded other autoinflammatory diseases and any doubtful cases. For assessment of MEFV alleles prevalence 127 healthy unrelated CT adults from different parts of Crimea peninsula were included. Sanger sequencing of MEFV exons 2 and 10 was performed in all the patients and controls.Results:FMF in CT was diagnosed with nearly 5 year-delay, despite the earlier age at onset. CT children had more frequent and prolonged fever, joint involvement (arthritis and arthralgia) and erysipeloid rash compared to Turkish, who had more attacks with chest pain and abdominal pain which last longer. (Table 1) CT had higher white blood cell count, C-reactive protein, erythrocyte sedimentation rate and lower hemoglobin. It might be explained by the fact that the majority of Crimean Tatars were admitted to the clinic during an attack, which was not always the case with Turkish children. Distribution of MEFV pathogenic alleles p.M694V, p.M680I, p.V726A in CT children was 81%, 9.5% and 9.5%, respectively, while in Turks it was 68.6%, 14.3% and 12.9%. Among the CT patients, proportion of homozygotes, compound-heterozygotes and heterozygotes were 11%, 6% and 83%, and among Turkish patients were 45%; 30%; and 25%, respectively. MEFV pathogenic variants were detected in 10.2% of healthy CT donors: 7.1% individuals had p.M694V, 1.6% - p.M680I, 1.6% - p.V726A. Comorbid diseases including IgA vasculitis, sacroiliitis, JIA, autoimmune hepatitis and inflammatory bowel disease were reported in 5.6% of CT and 10% of Turks. The colchicine treatment rate and regimen were similar, but CT received biologics more frequently (44%) than Turks (22.5%).Conclusion:CT is an ethnic group with a significant number of MEFV mutation carriers assuming the expected prevalence of FMF to be as high as 1:385. Thus, any periodic fever in CT patients should be considered as a sign of possible FMF. The clinical course of FMF has some peculiarities in CT patients.This work supported by the Russian Foundation for Basic Research (grant № 18-515-57001).Table 1.Comparative data of FMF patients with Turkish and Crimean Tatar originFMF featuresTurkish (n=40)Crimean Tatars (n=18)рFamily history of FMF, n (%)16 (40)9 (50)0.477Consanguinity, n (%)8 (20)6 (33)0.272Onset age, years3.3 (2; 5)1.3 (0; 4)0.040Age at FMF diagnosis, years4.7 (3; 8)9.6 (4; 14)0.005Diagnosis delay, years0.9 (0; 2)5.5 (2; 10)0.00001Fever, n (%)33 (83)18 (100)0.058Episode duration, days2.0 (2; 3)3.0 (3; 6)0.000003Fever duration, hours48.0 (48; 72)72.0 (72; 120)0.000002Chest pain, n (%)12 (30)1 (6)0.039Chest pain duration, hours48.0 (24; 72)0.0 (0; 0)0.000001Abdominal pain, n (%)30 (75)9 (50)0.061Abdominal pain duration, hours48.0 (24; 48)24.0 (24; 24)0.043Arthritis, n (%)10 (25)16 (89)0.000006Arthralgia, n (%)19 (48)17 (94)0.0007Erysipeloid rash, n (%)0 (0)9 (50)0.000001Disclosure of Interests:None declared

BackgroundMusculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department.MethodsPatients who presented to the Department of Pediatric Rheumatology and were referred to the pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 ± 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the pediatric genetics department. The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8).ConclusionsIn the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.

Background The adverse effects of tumor necrosis factor alpha inhibitors (TNFi) are well characterized but rare adverse events are increasing day by day. Case We presented an 18-year-old girl with rheumatoid factor positive polyarticular juvenile idiopathic arthritis (JIA) who developed fever, headache, and nausea after the second dose of adalimumab. In addition to her suspicious complaints for meningitis, she had bilateral papilledema and partial abducens nerve palsy. Leptomeningeal contrast enhancement was noted in magnetic resonance imaging (MRI) of the brain. Brain MRI venography was normal. The cerebrospinal fluid (CSF) opening pressure was high but CSF analysis was normal. She was diagnosed with non-infectious subacute meningitis. Since brain biopsy was not performed, no definite distinction could be made between TNFi related aseptic meningitis or cerebral involvement of JIA. Due to the onset of neurological complaints after initiation of adalimumab treatment and rare cerebral involvement in JIA, the drug-associated aseptic meningitis was likely to be responsible in our patient. Adalimumab was discontinued and methylprednisolone followed by methotrexate treatment were initiated. Her symptoms resolved and control brain MRI was normal. Conclusion Pediatric rheumatologists should be aware of this potentially severe side effect of anti-TNF treatment.

BACKGROUND Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease. We aimed to investigate the oral health status and oral hygiene habits in children with FMF. METHODS In this cross-sectional study, 199 children with FMF, aged between 3-18 years, were included. Demographic findings and oral hygiene habits of children were questioned by face-to-face interview. Oral health status of patients was evaluated using decay-missing-filled index [DMFT (decay-missing-filled teeth), DMFS (decay-missing-filled teeth) for permanent; dmft, dmfs for primary teeth], the International Caries Detection and Assessment System (ICDAS-II) index, PUFA / pufa index [the presence of severely decayed teeth with visible pulpal involvement (P/p), ulceration caused by dislocated tooth fragments (U/u), fistula (F/f) and abscess (A/a)], gingival (GI) and plaque index (PI). In addition to these, occlusion, oral soft and hard tissues were examined. RESULTS One-hundred-nine (54.8%) of children had at least one decayed permanent tooth and 81.2% of children had at least one decayed primary tooth. The mean DMFT was 1.91±2.45, DMFS was 3.1±4.49, dmft was 3.95±3.54, dmfs was 8.62±8.88, PI was 1.17±0.44, GI was 0.85±0.39. Aphthous mouth ulcer occurred in 19 (9.5%) patients. Recurrent aphthous mouth ulcers were more frequent among patients with one exon-ten and one exon-two mutations than patients with one exon-10 mutation, two exon-ten mutations, or two exon-2 mutations (61.1% vs. 47.9%, 26.1%, 20%, respectively p < 0.001). Tooth decay was more frequent among patients who had attacks in the last six months than those who did not have any attacks during the last six months (97.4% vs. 87.7%, p=0.017). CONCLUSION Dental caries and periodontal disease, which are public health problems, were seen at a high percentage of children with FMF in our study.

Objective Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aim was to compare the features between PFAPA syndrome patients from Turkey and those from the US, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory disorders. Methods Seventy-one children with PFAPA syndrome, followed in Hacettepe University, in Ankara, Turkey, and 60 patients at Boston Children's Hospital in the US were enrolled. MEFV gene-variant analysis was performed in 56 patients with Sanger sequencing. Results In patients from Turkey, symptom onset was at a younger age, fever attacks were of shorter duration, and pharyngitis was more frequent, whereas adenitis, headache, and nausea/vomiting were less frequent during attacks, when compared to patients from the US (P Conclusion The differences between patients from the Turkish and US cohorts may be due to epigenetic or environmental factors. In addition, the Eurofever FMF criteria may perform better in certain areas, if the weight of ethnic origin parameter or cutoff values were modified.

Reactive haemophagocytic syndrome (RHS) is a hyperinflammatory disorder often occurring in the background of several disorders such as infections, malignancies, and rheumatic diseases. Recently, a score known as the HScore was developed for the diagnosis of RHS. In the original study, most of the patients had underlying haematological malignancy or infection and the best cut-off value for the HScore was 169 (sensitivity 93%; specificity 86%). In this study we aimed to analyse the performance of the HScore in rheumatic disease-related RHS.The patients with rheumatic disorders evaluated in the Departments of Rheumatology and Paediatric Rheumatology at Hacettepe University, Ankara, Turkey between 2002 and 2014 were reviewed retrospectively. The first group (n = 30) consisted of patients with RHS; the control group (n = 64) included patients with active rheumatic diseases without RHS.In the RHS group, 14 (46.7%) had adult-onset Still's disease (AOSD), 10 (33.3%) systemic juvenile idiopathic arthritis (SJIA), and six (20%) systemic lupus erythematosus (SLE). The control group (n = 64) consisted of 32 (50%) AOSD, 13 (20.3%) SJIA, and 19 (29.7%) SLE patients. Applying the HScore to the RHS patients, the best cut-off value was 190.5 with a sensitivity of 96.7% and specificity of 98.4%. When we excluded the patients from the control group who had not had bone marrow aspiration (n = 23), the same cut-off (190.5) performed best (sensitivity 96.7%; specificity 97.6%). Applying the 2004 haemophagocytic lymphohistiocytosis (HLH-2004) criteria gave a sensitivity of 56.6% and a specificity of 100% in the whole study group.In our study, a cut-off value for the HScore different from the original study performed better. Further studies are warranted to determine optimum cut-off values in different studies.

Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone. The clinical spectrum of SPENCD includes neurological involvement and immune dysfunction, such as systemic lupus erythematosus (SLE). To date, there are only 12 reported cases of SPENCD associated with SLE in the literature; however, detailed clinical follow-up data is absent for this comorbidity. This report presents clinical and laboratory data of three patients diagnosed with SPENCD-associated SLE. All three patients had short stature, arthralgia/arthritis, lupus nephritis, hypocomplementemia, and positive autoantibodies, including anti-nuclear and anti-dsDNA antibodies. Two patients exhibited class IV and one patient exhibited class V lupus nephritis. The early recognition of SPENCD is imperative, and this condition should be considered in patients with SLE, particularly in individuals with short stature and skeletal abnormalities. The cases presented here demonstrate that timely diagnosis and follow-up are key factors for the successful management of these conditions.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, but many rheumatologists are not well acquainted with its management. The objective of this report is to produce evidence-based recommendations to guide rheumatologists and other health professionals in the treatment and follow-up of patients with FMF. A multidisciplinary panel, including rheumatologists, internists, paediatricians, a nurse, a methodologist and a patient representative, was assembled. Panellists came from the Eastern Mediterranean area, Europe and North America. A preliminary systematic literature search on the pharmacological treatment of FMF was performed following which the expert group convened to define aims, scope and users of the guidelines and established the need for additional reviews on controversial topics. In a second meeting, recommendations were discussed and refined in light of available evidence. Finally, agreement with the recommendations was obtained from a larger group of experts through a Delphi survey. The level of evidence (LoE) and grade of recommendation (GR) were then incorporated. The final document comprises 18 recommendations, each presented with its degree of agreement (0–10), LoE, GR and rationale. The degree of agreement was greater than 7/10 in all instances. The more controversial statements were those related to follow-up and dose change, for which supporting evidence is limited. A set of widely accepted recommendations for the treatment and monitoring of FMF is presented, supported by the best available evidence and expert opinion. It is believed that these recommendations will be useful in guiding physicians in the care of patients with FMF.

Colchicine is the mainstay of treatment for familial Mediterranean fever. We investigated the frequency of leukopenia in 213 patients with familial Mediterranean fever treated with standard doses of colchicine (0.5-2.0 mg/day). We found that 23 patients (10.8%) had reversible leukopenia, 3 moderate, and none severe and that their rate of infections was not increased.

Background:IgA vasculitis/ Henoch Schönlein Purpura (IgAV/HSP) is the most common vasculitis of childhood, characterized by the IgA1 immune deposits in the small vessels. Although it is very common, the understanding of its molecular pathogenesis is still very limited.Objectives:We aimed to analyse plasma proteomes of IgAV/HSP patients using nano liquid chromatography – tandem mass spectrometry (nLC-MS/MS) to investigate the disease pathogenesis.Methods:IgAV/HSP was diagnosed according to the Ankara criteria in 2008 (1). Five active IgAV/HSP patients and two age and gender-matched health controls were enrolled in this pilot study. Serum samples from subjects were collected on the same day of IgAV/HSP diagnosis and before steroid or other immunosuppressive treatment initiated. Sample preparation was carried out using PreOmics İST Kit. We investigated the alteration of serum proteome using the nano LC-MS/MS approach. Bruker raw files were analyzed using the proteomics software Max Quant (1.6.7.0). The human reference proteome set from UniProt was used to identify proteins. Proteomic data were analyzed with Perseus 1.6.7.0.Results:The data file includes peptide and protein identification, accession numbers, protein and gene names, sequence coverage and label free quantification (LFQ) values of each sample. 345 proteins were reported per sample. Identifications from the reverse decoy database, identified by site only and known contaminants were excluded. Data were log transformed. Two sample T-test was performed between groups. We identified 23 significantly different expressed proteins (Table 1). Mainly the differentially expressed proteins were in the Ig and complement pathway, innate immune inflammatory, and were among the structural cytoskeletal filaments. The levels of Complement C3, Apolipoprotein E, Glyceraldehyde-3-phosphate dehydrogenase, Filamin-A, Alpha-1B-glycoprotein, Tubulin beta-1 chain, Lipopolysaccharide-binding protein, Ig mu chain C region were significantly higher in IGAV patients.Table 1.List of differentially expressed proteins identified in IgAV compared to healthy controlsMajority protein IDsProtein namesGene namesp-valueO75822Eukaryotic translation initiation factor 3 subunit JEIF3J0,004P05106;H3BM21Integrin beta-3ITGB30,008P02743Serum amyloid P-componentAPCS0,015A0A0J9YX35unknown0,015A2NJV5;A0A075B6S2unknownIGKV A18;IGKV2D-290,021P02679Fibrinogen gamma chainFGG0,022A0A0C4DH36unknownIGHV3-380,024P0DP03;P01768Ig heavy chain V-III region CAM0,024O14791Apolipoprotein L1APOL10,025P01024Complement C3C30,030P02675Fibrinogen beta chain; Fibrinopeptide BFGB0,030P01860Ig gamma-3 chain C regionIGHG30,031A0A075B7D8unknownIGHV3OR15-70,034P02649Apolipoprotein EAPOE0,035P04406Glyceraldehyde-3-phosphate dehydrogenaseGAPDH0,037A0A075B6R2;A0A087WW49unknownIGHV4-40,039P21333Filamin-AFLNA0,043P04217Alpha-1B-glycoproteinA1BG0,045P02790HemopexinHPX0,046A0A0C4DH25unknownIGKV3D-200,047Q9H4B7Tubulin beta-1 chainTUBB10,049P18428Lipopolysaccharide-binding proteinLBP0,049P01871Ig mu chain C regionIGHM0,050Conclusion:This pilot proteomic study may provide us a perspective in the pathogenesis of IgAV (HSP).References:[1]Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R, et al. EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: final classification criteria. Ann Rheum Dis 2010;69(5):798e806.Disclosure of Interests:Selcan Demir: None declared, Melis Sardan: None declared, Idil Yet: None declared, Erdal Sag Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Yelda Bilginer Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Ömür Celikbicak: None declared, Seza Özen Consultant of: Novartis, Pfizer, Speakers bureau: SOBI, Novartis

Background:FMF is a prototype of autoinflammatory diseases associated with excess IL1 production. Anti-IL1 treatments are the first-line alternatives in colchicine resistant/intolerant FMF patients.Objectives:We aimed to investigate the efficacy and safety of anti-IL1 treatment in pediatric FMF patients in our local (HELIOS) registry.Methods:HELIOS (Hacettepe univErsity eLectronIc research fOrmS) is a web-based biological drug registry for pediatric rheumatology patients (helios.hacettepe.edu.tr). Data were recorded at biological treatment onset (month 0), at month 6 and yearly thereafter in patients. We have analysed the clinical features, disease activity parameters, treatment responses and safety outcomes in FMF patients treated with anti-IL1 agent.Results:Forty pediatric FMF patients were included to the study group (67% female).Thirty-four patients received continous anti-IL1 treatment. The mean age at the start of the colchicine was 5.55±3.87 years. Age at onset of the anti-IL1 treatment was 11.47±5.41 with a mean follow-up duration of 3.87±1.96 years. Apart from two patients, all of them had biallelic exon-10 mutations.We have also given anti-IL1 treatment on an on-demand basis in six adolescent patients. Five of them were having very severe attacks during menstrual periods and one was having attacks during extreme stress periods along with very high CRP levels. The quality of life has markedly improved and these patients no longer reveal any CRP elevation.Anakinra was used as the first-line anti-IL1 treatment. During the last visit, six patients were treated with anakinra and 28 patients were treated with canakinumab. Anti-IL1 treatment decreased the CRP levels, number and severity of the attacks. (Figure 1.) There were three hospitalizations reported due to mild infections. Eleven patients had local skin reactions, two patients had leukopenia with anakinra and one patient had thrombocytopenia with canakinumab. We have discontinued anti-IL1 treatment until the cytopenia subsided. We have switched to on-demand therapy in one patient, started the same treatment and gradually increased the dose in the other two patients. There were no malignancy or other severe adverse reactions.Figure 1.Conclusion:Anakinra and canakinumab are efficient and safe alternatives in colchicine resistant and intolerant pediatric FMF patients. We also for the first time, report on-demand use of anti-IL1 in pediatric FMF patients. We suggest that on-demand treatment should be considered under certain circumstances where the trigger is known and short-lasting (such as menstruation and periods of extreme stress)Acknowledgments:Authors would like to thank Elif Arslanoglu Aydin, Armagan Keskin, Kubra Yuksel and Emil Aliyev for their contribution to the HELIOS registryDisclosure of Interests:Erdal Sag Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Fuat Akal Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Erdal Atalay Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Ummusen Kaya Akca Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Selcan Demir Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Dilara Demirel Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Ezgi Deniz Batu Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Yelda Bilginer Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Seza Özen Consultant of: Novartis, Pfizer, Speakers bureau: SOBI, Novartis

Background:IgA vasculitis/ Henoch Schönlein Purpura (IgAV/HSP) is the most common vasculitis of childhood and renal involvement is the most serious long-term complication. A better understanding of the pathophysiology of the progression to kidney disease is required for better treatment to be achieved and current biomarkers of Ig A vasculitis with nephritis (IgAVN) lack the predictive value.Objectives:In this study, an untargeted metabolomics approach was performed to reveal the underlying molecular mechanism of disease pathogenesis and to find potential biomarkers of plasma samples from patients with IgAV and IgAVN.Methods:IgAV/HSP was diagnosed according to the Ankara criteria in 2008 (1). Forty-five patients, including 39 active IgAV patients (H), 6 IgAVN (N), and 6 age- and gender-matched healthy controls (C), were enrolled in the study. Plasma samples from subjects were collected on the same day of IgAV(HSP) diagnosis and before steroid or other immunosuppressive treatment initiated. This study has utilized liquid chromatography-mass spectrometry (LC-MS/ Q-TOF) to investigate the alterations in plasma metabolomic profiles. Three separate pools, health controls, active IgAV, and IgAVN were created. Peak picking, grouping, and comparison parts were performed (metabolite profiling) via XCMS (https://xcmsonline.scripps.edu/) software.Results:Totally 2618 peaks were detected for group H, N and C. Among them 355 peaks were found to be statistically significant and reliable (p1.5) between the groups C and H. On the other hand, 66 peaks were found to be changed (fold change >1.5) between the groups H and N. The number of the peaks on the intersection of the peaks found to be changed between the groups (C and H) and (H and N) was 39. This situation was illustrated in Figure 1. Based on putative identification results, 15 peaks were matched with 24 metabolites. The list of these metabolites is given in Table 1.Table 1.Putative identification of 15 peaks found to be statistically different and having fold changes.PeakPutative IdentificationKEGG Codesrt (min)N/H15-AminopentanamideC009902,100,3615-Aminopentanoic acidC004312,100,3612-Keto-6-aminocaproateC032392,100,361(S)-5-Amino-3-oxohexanoateC036562,100,361D-1-Piperideine-2-carboxylic acidC040922,100,362OxalureateC0080215,520,503PorphobilinogenC0093114,789,624(+)-cis-3,4-Dihydrophenanthrene-3,4-diolC0446815,520,025(-)-trans-CarveolC0096412,691,826DHAP(18:0)C0380512,701,926N-Acetyl-b-glucosaminylamineC0123912,701,9275-Methyltetrahydrofolic acidC0044014,882,418N2-Succinyl-L-ornithineC0341515,520,058N6-Acetyl-LL-2,6-diaminoheptanedioateC0439015,520,059EstroneC0046812,711,9010N-Acetyl-4-O-acetylneuraminic acidC0401514,892,4110N-Acetyl-7-O-acetylneuraminic acidC0401614,892,4111Oleoyl-CoAC0051015,520,2612SaccharopineC0044915,520,2613Prostaglandin D2C0069617,812,0513Prostaglandin I2C0131217,812,0514Glycocholic acidC0192113,780,6115GalactosylsphingosineC0174724,410,4515GlucosylsphingosineC0310824,410,45Figure 1.The number of the peaks found on datamining processConclusion:Certain differences in metabolites were identified between controls and IgAV patients and between those with and without kidney involvement.References:[1]Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R, et al. EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: final classification criteria. Ann Rheum Dis 2010;69(5):798e806.Disclosure of Interests:Selcan Demir: None declared, Mustafa Çelebier: None declared, Ozan Kaplan: None declared, Erdal Sag Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Yelda Bilginer Grant/research support from: Novartis and SOBI financially supported the HELIOS registry during the establishment of infrastructure, Seza Özen Consultant of: Novartis, Pfizer, Speakers bureau: SOBI, Novartis

Polyarteritis nodosa is a necrotising vasculitis of predominantly medium size vessels. The present study aimed to summarise the characteristics of PAN patients, and also analyse the trend of decreasing PAN frequency in the last 25 years.PAN patients followed up between 1990 and 2015 were included. The demographics, clinical findings and outcomes were retrospectively evaluated.One hundred thirty-three patients, including 66 children, were enrolled in the study. Among 133 patients, 86 (64.7%) had fever, 108 (81.2%) had skin involvement, 54 (40.6%) had renal involvement, 43 (32.3%) had neurological involvement, 32 (24.1%) had gastrointestinal involvement, 10 (7.5%) had cardiac involvement, 6 (4.5%) had pulmonary involvement. The median (minimum-maximum) leukocyte count, erythrocyte sedimentation rate and C-reactive protein levels at the time of diagnosis were 10400 (6100-32000)/mm3, 58 (2-132) mm/h and 5.22 (0-46) mg/dL, respectively. All patients were ANCA negative. Hepatitis serology was analysed in 121 patients and found positive in 13 of them. MEFV mutations were screened among 65 patients, 24 of them had mutations in at least one allele. Biopsy was performed in 109 patients and angiography was performed in 92 patients. The number of PAN patients declined significantly after 2010. 9 patients were re-categorised as DADA2 after 2014 and no patient were diagnosed with FMF+PAN after 2008.Our results suggest a decrease in PAN in our country which may be due to improved healthcare and dissecting mimicking diseases. Further prospective studies with prolonged follow-up could help us to better understand the disease characteristics.

Aim/purpose: Our aim was to investigate the association between blood groups and colchicine resistance in familial Mediterranean fever (FMF) patients. Methods: This is a single-center, cross-sectional study. Between January and December 2016, 385 FMF patients were assessed by the Adult and Pediatric Rheumatology outpatient clinics and 297 patients had blood groups (ABO and Rh) results. The patients were grouped into two groups: colchicine-responsive patients (Group CR) and colchicine-unresponsive patients (Group CUR). Results: Patients with blood group A had 1.5-fold higher FMF compared with non-A blood group (OR: 1.50 [95% CI: 1.11–1.87]), particularly having a Rh (+) blood group (OR: 1.47 [95% CI: 1.13–1.91]). Furthermore, patients with blood group A had a better response to colchicine treatment than non-A blood group; (OR: 2.21 [95% CI: 1.15–4.27]). Patients with blood group O were prominently associated with colchicine resistance. Conclusion: ABO blood phenogroups may be used in combination with other risk factors to identify FMF patients and patients at high risk for colchicine resistance.

Background Juvenile idiopathic arthritis (JIA) is a chronic inflammatory childhood disease with symptoms such as joint inflammation, pain and loss of quality of life.1 Types of disease and the presence of pain can impact the child psychosocially, as well as affecting functional activity.2 Objectives The aim of this study is to examine the results of functional and psychosocial status according to the disease type and the presence of pain symptoms in children with JIA. Methods The study included 71 children diagnosed with JIA who applied to the Hacettepe University Ihsan Dogramaci Children’s Hospital Rheumatology Department. Following the collection of demographic information, functional status was assessed with the Child Health Assessment Questionnaire (CHAQ) and psychosocial and functional status was assessed with the scale developed in Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation for functional and psychosocial status of children with rheumatism by Edibe Unal.3 Children were divided into groups according to disease type as oligoarthritis or polyarthritis and the presence or absence of pain. Results Table 1 shows the mean age and numbers of children. There was no difference between the groups according to disease type (p>0,05). On the other hand, comparing scores for the CHAQ total, CHAQ general VAS assessment, functional and psychosocial status according to the presence or absence of pain revealed significant differences (p Conclusions We conclude that pain has a greater effect on functional, psychosocial and overall disease assessment in children with JIA when compared to the disease type. Thus, it must be taken into consideration that child’s ability to cope with pain should be improved. References [1] Angelo Ravelli, Alberto Martini. Juvenile idiopathic arthritis.The Lancet2007, 369(9563); 767–778. [2] Laura E Schanberga, John C Lefebvreb, et al. Pain coping and the pain experience in children with juvenile chronic arthritis. Pain1997, 73(2); 181–189. [3] Kisacik Pinar,Unal Edibe, et al. Juvenil Idiyopatik Artritli Hastalarda Cok Yonlu Bir Degerlendirme Sistemi Olusturulmasi Delphi Calismasi. 2016, Annals Of Paediatric Rheumatology Disclosure of Interest None declared

Background Polyarteritis nodosa (PAN) is a necrotizing vasculitis of predominantly medium size vessels. Objectives The present study aimed to summarise the characteristics of PAN patients, and also analyse the trend of decreasing PAN frequency in the last 25 years, in Turkey Methods Paediatric and adult PAN patients followed up in Hacettepe University and Istanbul University Cerrahpasa Faculty of Medicine between 1990 and 2015, were included. The demographics, clinical findings and outcomes were evaluated retrospectively. Results One hundred thirty-three patients, including 66 children, were enrolled in the study. The mean follow-up duration was 132–27 years. Among 133 patients, 86 (64.7%) had fever, 108 (81.2%) had skin involvement, 54 (40.6%) had renal involvement, 43 (32.3%) had neurological involvement, 32 (24.1%) had gastrointestinal involvement, 10 (7.5%) had cardiac involvement, 6 (4.5%) had pulmonary involvement. The median (minimum-maximum) leukocyte count, erythrocyte sedimentation rate and C-reactive protein levels at the time of diagnosis were 10400 (6100–32000)/mm3, 58(2–132) mm/h and 5.22 (0–46) mg/dL, respectively. All patients were ANCA negative. Hepatitis serology was analysed in 121 patients and found positive in 13 of them. MEFV mutations were screened among 65 patients, 24 of them had mutations in at least one allele. Myalgia and skin involvement were significantly more frequent in children whereas neurologic involvement was much more common among adults (table 1). The number of PAN patients declined significantly after 2010 (figure 1). 9 patients were re-categorised as DADA2 after 2014 and no patient were diagnosed with FMF+. PAN after 2008 Conclusions Our results suggest a decrease in PAN in our country which may be due to improved healthcare and dissecting mimicking diseases. Further prospective studies with prolonged follow-up could help us to better understand the disease characteristics. Reference [1] Ozen S, et al. Childhood vasculitides in Turkey: a nationwide survey. Clin Rheumatol2007;26(2):196–200. Acknowledgements None Disclosure of Interest None declared

Background Juvenile Idiopathic Arthritis (JIA) is the most frequent chronic rheumatic disease during childhood. It can result in disabilities, loss of quality of life and mood changes.1 Furthermore, literature reviewing the effects of arthritis on children and family is inonsistent, with studies showing significant difference or not, compared to healthy children.2 Objectives The purpose of this study is to present results regarding the functional status, psychosocial status and disease activity of children with JIA and their effects on the child’s family. The second aim is to present the correlations between these parameters. Methods The study included children diagnosed with JIA who applied to Hacettepe University Ihsan Dogramaci Children’s Hospital Rheumatology Department. After demographic data was collected, all children were assessed with Child Health Assessment Questionnaire (CHAQ) for daily living activities, with the Juvenile Arthritis Disease Activity Score (JADAS) for disease activity and with a newly developed scale from Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation for children with rheumatism by Edibe Unal(3 for functional and psychosocial status. Cut-off point was accepted as ≤2.7 for disease activity.4 The Family Impact Scale (FIS) was used to assess perspective of parents. Results A hundred and ninety-six children were included in the study. The mean age of children was 12,44±3,97 and female/male ratio was 55,6/44,4. Although the mean JADAS score was 3,33±4,21, it only detected active disease in 81 children. There was a moderate correlation between CHAQ (Pain) and functional scores of Unal’s scale and JADAS score. CHAQ total score was well correlated with function and psychosocial scores. The correlation between FIS and other scales was very low. Conclusions Our results show that pain and function alter disease activity in children with JIA. It is seen that psychosocial states of children and their functional states expressed by their own knowledges also affect their daily life. These changes did not affect the wievpoint of the family. References [1] Spiegel L, Kristensen KD, et al. Juvenile idiopathic arthritis characteristics: Etiology and pathophysiology. Seminars in Orhodontics2015, 21(2); 77–83 [2] Susan T. Reisine. Arthritis and the Family. Arthritis Rheum1995, 8(4);265–271. [3]. Kisacik Pinar,Unal Edibe, et al. Juvenil Idiyopatik Artritli Hastalarda Cok Yonlu Bir Degerlendirme SistemiOlusturulmasi Delphi Calismasi. 2016, Annals Of Paediatric Rheumatology. [4] Bulasovic Calasan M, De Vries LD, et al. Interpretation of the Juvenile Arthritis Disease Activity Socre: responsiveness, clinically important differences and levels of disease activity in prospective cohorts of patients wiht juvenile idiopathic arhritis. Rheumatology(Oxford)2014, 53(2); 307–312. Disclosure of Interest None declared

Amaç: Anti-nükleer antikor (ANA), hücre çekirdeği yapısında yer alan yapılara karşı gelişen antikorlardır. Otoimmünhastalıklarda sıklıkla pozitif olabildiği gibi sağlıklı bireylerde de saptanabilir. Çalışmamızda, kliniğimize ANA pozitifliğiile yönlendirilen hastaların son tanılarını ve klinik izlemde romatolojik hastalık geliştirip geliştirmediğini ortaya koymayıamaçladık.Gereç ve Yöntemler: 2014-2016 yılları arasında Çocuk Romatoloji Bilim Dalı’na ANA pozitifliği nedeniyle yönlendirilen0-18 yaş arası olgular dahil edildi.Bulgular: Çalışmaya 43 olgu dahil edildi. Yönlendirilen hastaların ilk başvuru yakınmaları sırasıyla; 19’unda (%44.2) eklembulguları, 13’ünde (%30.2) mukokütanöz bulgular, 6’sında (%14) hematolojik bulgular, 3’ünde (%7) nörolojik bulgular,2’sinde (%4.6) Raynaud fenomeniydi. Hastaların 34’ünde (%79) ANA 1/160 ve üzerinde titrede pozitifti; 9’unda (%21)ise anlamlı olmayan düşük titrelerde saptanmıştı. Hastaların 23’üne (%53.4) romatolojik hastalık tanısı konulurken; 20hastada romatizmal hastalık olmadığı saptanmıştır. ANA pozitif (n=34) olan hastalarla ANA negatif (n=9) olan hastalarınklinik ve laboratuvar özellikleri açısından anlamlı fark saptanmamıştır. Romatolojik hastalık tespit edilen ile edilmeyenhastalar karşılaştırıldığında, romatolojik hastalığı olanlarda artralji, artrit ve Raynoud fenomeni anlamlı olarak daha fazla,otoantikor varlığı daha sık ve akut faz reaktan düzeyleri anlamlı olarak daha yüksekti. Hastaların medyan (minimummaksimum)takip süresi 24 (6-37) aydı.Sonuç: ANA testinin, özellikle romatolojik hastalığı telkin eden klinik bulgular varlığında istenmesinin daha uygun olacağıdüşünülmektedir, Objective: Anti-nuclear antibodies (ANA) develop against the structures found in the cell nucleus. These antibodies canbe positive in the autoimmune disorders, but they can be also detected in healthy people. The objective of our studywas to determine the definitive diagnosis of the patients referred to our clinic due to the ANA positivity and find outwhether they develop rheumatologic disorders during the clinical follow-up.Material and Methods: We have reviewed the medical files of children who were referred to the pediatric rheumatologydepartment between 2014 and 2016 with ANA positivity.Results: 43 subjects were enrolled in the study. The complaints of the referred patients at first presentation wereas follows: joint symptoms in 19 patients (44.2%), mucocutaneous symptoms in 13 patients (30.2%), hematologicalfindings in 6 patients (14%), neurological symptoms in 3 patients (7%), and Raynaud’s phenomenon in 2 patients(4.6%). 34 patients (79%) had a positive ANA titer ≥ 1/160. The ANA titer level was below 1/160 in 9 patients (21%).23 patients (53.4%) were diagnosed with a rheumatologic disease, while 20 patients did not have any rheumatologicdisorder. There was no significant difference between the ANA-positive (n=34) and ANA-negative (n=9) patients withregards to the clinical and laboratory characteristics. The comparison of the patients with and without a rheumatologicdisorder revealed that the presence of auto-antibodies was more common and acute phase reactant levels were higherin the disease group for arthralgia, arthritis and Raynaud’s phenomenon.Conclusion: We conclude that ANA testing should preferably be requested in the presence of clinical findings associatedwith rheumatologic disorders.

Objective: Familial Mediterranean fever (FMF) is a periodic fever syndrome caused by MEFV mutations. FMF may be associated with psoriasis in some cases. The prevalence of psoriasis in the normal Turkish population is 0.42%. We aimed to investigate the prevalence of psoriasis among FMF patients and their relatives. Methods: FMF patients followed at Hacettepe University Adult and Pediatric Rheumatology Departments between January and August 2016 were included. FMF patients/their relatives were accepted to have psoriasis if the diagnosis was made by a dermatologist. Results: A total of 351 FMF patients (177 adults; 174 children) were included. The median (min–max) age of adult and pediatric patients was 35 (19–63) and 10 (2–18) years, respectively. Thirteen (3.7%) FMF patients (11 adults, 2 children) had psoriasis. Psoriasis was more common in adult than pediatric patients (p = 0.02). Psoriasis was present in 22 (12.4%) of adult and 9 (5.2%) of pediatric patients’ relatives (p = 0.023). The frequency of psoriasis in ≥1 relatives of FMF patients was found to be 8.8%. Abdominal pain and fever were significantly higher, and arthralgia, arthritis, pleural chest pain, and pericarditis were significantly less frequent in the pediatric group than in adults (p