Familial Mediterranean fever: Health-related quality of life and associated variables in a national cohort

Objectives: This study aims to evaluate the effectivity of Familial Mediterranean Fever Quality of Life (FMF-QoL) Scale for the measurement of QoL in patients with FMF and to perform correlations between related clinical variables in Turkish patients. Patients and methods: This multicenter prospective study performed between December 2017 and November 2018 included 974 FMF patients (334 males, 640 females; median age: 35; range, 26 to 45 years). Sociodemographic characteristics and clinical features were recorded. All participants were asked to complete the FMF-QoL Scale, Short Form-36 (SF-36), Hospital Anxiety and Depression Scale (HADS), Health Assessment Questionnaire (HAQ), and Functional Assessment of Chronic Illness Therapy (FACIT) Scale. Results: The median FMF-QoL Scale score was 26. Higher FMF-QoL Scale scores were shown to be related to female sex, illiteracy or primary education, monthly low-income (US$20 years), a higher number of attacks per month (>1/month), and severe disease. FMF-QoL Scale scores were correlated negatively with subscales of SF-36, and positively with HADS-anxiety and HADS-depression scores, HAQ and FACIT. Conclusion: Female sex, smoking, lower educational status, more severe disease, fatigue, and functional impairment were associated with poor QoL. FMF-QoL Scale was noted as a valid and simple patient-reported outcome instrument and correlated with the SF-36 scale

Is there a relationship between gouty arthritis and Mediterranean fever gene mutations?

Objective: Gouty arthritis and familial Mediterranean fever share some clinical and pathological features such as being classified as auto-inflammatory disease, association with inflammasome, short-lived intermittent arthritis, and good response to colchicine and anti-interleukin-1 treatments. As Mediterranean fever gene is the causative factor of familial Mediterranean fever, we aimed to investigate the prevalence of Mediterranean fever gene mutations and their effect on disease manifestations in Turkish gouty arthritis patients

Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo?

RESUMO Objetivo A artrite gostosa e a febre familiar do Mediterrâneo (FFM) compartilham algumas características clínicas e patológicas, como ser classificada como uma doença autoimune inflamatória, ter associação com o inflamassoma, manifestar artrite intermitente de curta duração e boa resposta a tratamentos com colchicina e anti-interleucina-1. Como o gene da febre familiar do Mediterrâneo (MEFV) é o fator causador da FFM, este estudo teve como objetivo investigar a prevalência de mutações do gene MEFV e seu efeito sobre as manifestações da doença em pacientes turcos com artrite gotosa. Métodos Foram incluídos no estudo 97 pacientes com diagnóstico de artrite gotosa primária (93 M e 4 F; 54 [37-84] anos) e 100 controles saudáveis (94 M e 6 F; 57 [37-86] anos). Todos os indivíduos foram submetidos à análise do genótipo à procura de variações no MEFV. Também foi registrado o número de crises de gota, o uso de diuréticos e a história de nefrolitíase e presença de tofos. Resultados A frequência de portadores de mutações no MEFV em pacientes e controles foi de 22,7% (n = 22) e 24% (n = 24), respectivamente. A comparação entre os pacientes e os controles não produziu diferença estatisticamente significativa em termos de frequência de portadores de mutações no MEFV (p = 0,87). As frequências alélicas de mutações no MEFV nos pacientes foram de 11,9% (n = 23) e 14% (n = 28) nos controles (p = 0,55). A presença de variantes do MEFV não mostrou qualquer associação com as características clínicas da artrite gotosa. A análise por subgrupos de pacientes revelou que aqueles com artrite gotosa com mutações tinham frequências semelhantes de tofo, história de nefrolitíase e podogra em comparação com os indivíduos sem mutações (p > 0,05). Conclusões As mutações no gene MEFV não exercem um papel relevante em pacientes turcos com artrite gotosa

Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort

The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Disease severity, assessed using a scoring system developed by Pras et al., was evaluated in relation to gene mutations and age of disease onset. A total of 979 patients (643 females and 336 males; mean age: 35.92 +/- 11.97 years) with FMF were included in the study. Of a total of 585 pregnancies, 7% of them resulted in preterm birth and 18.1% resulted in abortions. During pregnancy, there was no FMF attack in 61.4% of patients. Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. Patients with homozygous gene mutations had more severe disease activity, earlier age of disease onset, higher rates of joint and skin involvement, sacroiliitis, and amyloidosis. Patients with compound heterozygous genotype displayed severe disease activity in close resemblance to patients with homozygous mutation. In addition, patients with compound heterozygous mutations had higher rates of protracted febrile myalgia and elevated fibrinogen levels. In 63.9% of compound heterozygous patients, age of onset was < 20 years, with greater disease severity, and high rates of attack frequency and colchicine resistance. Our results suggest that indicators for disease severity include early onset of disease and homozygous gene mutations. Furthermore, patients with compound heterozygous mutations displayed significant presentations of severe disease activity

The impact of COVID-19 on familial Mediterranean fever: a nationwide study

The study aimed to evaluate the impact of the coronavirus disease 2019 (COVID-19) in patients with familial Mediterranean fever (FMF) and to assess the relationships between FMF characteristics and severe COVID-19 outcomes such as hospitalization. The study was planned within a national network of 21 different centers. Demographics, FMF-related clinical and genetic characteristics, and COVID-19 outcomes were obtained. A total of 822 patients with FMF (mean age of 36 years) were included in the study. Fifty-nine of them (7%) had a COVID-19 diagnosis confirmed by real-time PCR test or chest CT findings. Most FMF patients with COVID-19 (58) had mild and moderate disease activity. All patients were on colchicine treatment. However, 8 of them (13.6%) were not compliant with colchicine use and 9 of them (15.3%) were colchicine resistant. Twelve FMF patients with COVID-19 were hospitalized. There were 4 patients requiring oxygen support. COVID-19 related complications were observed in 2 patients (1 thromboembolism, 1 acute respiratory distress syndrome). Hospitalized COVID-19 patients with FMF were older than non-hospitalized patients (median ages: 51 and 31 years, respectively; p: 0.002). Other FMF-related characteristics were similar between the groups. FMF-related characteristics were not found to be associated with poor outcomes in COVID-19. Thus, FMF may not be a risk factor for poor COVID-19 outcomes

2017 update of the Turkish League Against Rheumatism (TLAR) evidence-based recommendations for the management of knee osteoarthritis

WOS: 000438624900001PubMed ID: 29777340In a Turkish League Against Rheumatism (TLAR) project, evidence-based recommendations for the management of knee osteoarthritis (OA) was developed for the first time in our country in 2012 (TLAR-2012). In accordance with developing medical knowledge and scientific evidence, recommendations were updated. The committee was composed of 22 physical medicine and rehabilitation specialists (4 have rheumatology subspeciality also) and an orthopaedic surgeon. Systematic literature search were applied on Pubmed, Embase, Cochrane and Turkish Medical Index for the dates between January the 1st 2012 and January the 29th of 2015. The articles were assessed for quality and classified according to hierarchy for the level of evidence, and the selected ones sent to committee members electronically. They were asked to develop new recommendations. In the meeting in 2015, the format of the recommendations was decided to be patient-based and considering the grade and the severity of the disease. By the discussion of the each item under the light of new evidences, the final recommendations were developed. Each item was voted electronically on a 10-cm visual analogue scale (VAS) and the strength of recommendation (SoR) was calculated. In the light of evidences, totally 11 titles of recommendations were developed; the first 7 were applicable to each patient in every stages of the disease, remaining were for defined specific clinical situations. The mean SoR value of the recommendations was between 7.44 and 9.93. TLAR-2012 recommendations were updated in a new format. We think that, present recommendations will be beneficial for the physicians who manage, as well as the patients who suffer from the disease

Diz Osteoartrit Tedavisinde Kanıta Dayalı Öneriler: Türkiye Romatizma Araştırma ve Savaş Derneği Uzlaşı Raporu

Objectives: Knee osteoarthritis (OA) is a common disease which causes pain, disability and great socioeconomic burden as a result. Turkish League Against Rheumatism (TLAR) initiated a project to prepare national, "evidence-based recommendations for the management of knee osteoarthritis" supported by expert-opinion in order to assist the physicians who are interested in knee OA in their daily clinical practice. Materials and methods: The expert committee was composed of 25 academicians, 23 of whom were physical medicine and rehabilitation (PM&R) specialists (three also had rheumatology subspeciality) and two were orthopedic surgeons. At the first meeting, the previous guidelines were discussed, and 2008 Osteoarthritis Research Society International (OARSI) recommendations were decided to be taken as the fundamental template for national recommendations. Databases of the Pubmed, Embase, Cochrane, and Turkish Medical Index were used to search the literature, and this was carried out for the period between 2009-2010 for international publications since studies up to 2009 were present in the 2010 OARSI update. No limit was applied for searching of national publications. The selected relevant publications were graded according to evidence level and quality, and were sent to the members who were then asked to suggest propositions according to their experiences, knowledge, and review of the literature. After amalgamation and editing of new proposals, Delphi rounds were started. After five Delphi rounds, the propositions on which the members were in consensus, were discussed with regard to evidence and the "strength of recommendation" was determined by measuring on visual analog scale (VAS) for each proposal at the final meeting. Results: Nineteen propositions (one for general principles, nine for non-pharmacologic treatments, seven for pharmacologic treatments, and two for surgical treatments) were accepted as the "TLAR Evidence-Based Recommendations for the Management of Knee OA" in consensus as a result of Delphi rounds. Conclusion: Evidence-based recommendations for the management of knee OA were developed by TLAR for the first time in our country. The recommendations should be updated regularly according to new evidence and insights. It is expected that physicians who are interested in knee OA will benefit greatly from this report in their daily clinical practice

Bacterial Agents Causing Meningitis During 2013-2014 in Turkey: A Multi-Center Hospital-Based Prospective Surveillance Study

This is an observational epidemiological study to describe causes of bacterial meningitis among persons between 1 month and 18 y of age who are hospitalized with suspected bacterial meningitis in 7 Turkish regions. covering 32% of the entire population of Turkey. We present here the results from 2013 and 2014. A clinical case with meningitis was defined according to followings: any sign of meningitis including fever, vomiting, headache, and meningeal irritation in children above one year of age and fever without any documented source, impaired consciousness, prostration and seizures in those < 1 y of age. Single tube multiplex PCR assay was performed for the simultaneous identification of bacterial agents. The specific gene targets were ctrA, bex, and ply for N. meningitidis, Hib, and S. pneumoniae, respectively. PCR positive samples were recorded as laboratory-confirmed acute bacterial meningitis. A total of 665 children were hospitalized for suspected acute meningitis. The annual incidences of acute laboratory-confirmed bacterial meningitis were 0.3 cases / 100,000 population in 2013 and 0.9 cases/100,000 in 2014. Of the 94 diagnosed cases of bacterial meningitis by PCR, 85 (90.4%) were meningococcal and 9 (9.6%) were pneumococcal. Hib was not detected in any of the patients. Among meningococcal meningitis, cases of serogroup Y, A, B and W-135 were 2.4% (n = 2), 3.5% (n = 3), 32.9% (n = 28), and 42.4% (n = 36). No serogroup C was detected among meningococcal cases. Successful vaccination policies for protection from bacterial meningitis are dependent on accurate determination of the etiology of bacterial meningitis. Additionally, the epidemiology of meningococcal disease is dynamic and close monitoring of serogroup distribution is comprehensively needed to assess the benefit of adding meningococcal vaccines to the routine immunization program.Wo

Familial Mediterranean fever: Health-related quality of life and associated variables in a national cohort

Objectives: This study aims to evaluate the effectivity of Familial Mediterranean Fever Quality of Life (FMF-QoL) Scale for the measurement of QoL in patients with FMF and to perform correlations between related clinical variables in Turkish patients