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Öğe Amyloidosis and Its Related Factors In Patients With Familial Mediterranean Fever: A Nationwide Multicenter Study.(Wiley-Blackwell, 2013) Kasifoglu, Timucin; Yasar, Sule; Sari, Ismail; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, LeventÖğe Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study(Oxford Univ Press, 2014) Kaşifoğlu, Timuçin; Bilge, Şule Yaşar; Sarı, İsmail; Solmaz, Dilek; Şenel, Soner; Bes, CemalMethods. Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questionnaire and medical records were collected. The diagnosis of amyloidosis was based on histological proof of congophilic fibrillar deposits in tissue biopsy specimens. Results. There were 2246 FMF patients. The male/female ratio was 0.87 (1049/1197). The mean age of the patients was 34.5 years (s.d. 11.9). Peritonitis was the most frequent clinical finding and it was present in 94.6% of patients. Genetic testing was available in 1719 patients (76.5%). The most frequently observed genotype was homozygous M694V mutation, which was present in 413 (24%) patients. Amyloidosis was present in 193 patients (8.6%). Male sex, arthritis, delay in diagnosis, M694V genotype, patients with end-stage renal disease (ESRD) and family history of amyloidosis and ESRD were significantly more prevalent in patients with amyloidosis compared with the amyloidosis-negative subjects. Patients with homozygous M694V mutations had a 6-fold higher risk of amyloidosis compared with the other genotypes (95% CI 4.29, 8.7, P < 0.001). Conclusion. In this nationwide study we found that 8.6% of our FMF patients had amyloidosis and homozygosity for M694V was the most common mutation in these patients. The latter finding confirms the association of homozygous M694V mutation with amyloidosis in Turkish FMF patients.Öğe Comparison of early versus late onset familial mediterranean fever(Wiley, 2018) Bilge, Nazife Şule Yaşar; Sarı, İsmail; Solmaz, Dilek; Şenel, Soner; Emmungil, Hakan; Kılıç, Levent; Yılmaz Öner, Sibel; Bes, CemalAimFamilial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. MethodsEarly (20years, Group 1) and late (>20years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. ResultsOf the 2246 patients, 1633 (72.7%) were aged 20years old (Group 1) and the remaining 613 were older than 20years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations weresignificantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. ConclusionPatients with FMF whose symptoms start before 20years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.Öğe The distribution of MEFV mutations in Turkish FMF patients: Multicenter study representing results of Anatolia(2019) Bilge, N. Şule Yaşar; Sarı, İsmail; Solmaz, Dilek; Şenel, Soner; Emmungil, Hakan; Bes, CemalBackground/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.Öğe Exon 2: Is it the good police in familial mediterranean fever?(2019) Bilge, Nazife Şule Yaşar; Solmaz, Dilek; Şenel, Soner; Emmungil, Hakan; Kılıç, Levent; Beş, CemalObjective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three sub- groups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a signifi- cantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and out- come. Exon 2 mutations tend to have a better outcome.Öğe Items of Yamaguchi criteria might be associated with diseases severity and prognosis in adult-onset still's disease(Wiley-Blackwell, 2015) Kalyoncu, Umut; Solmaz, Dilek; Emmungil, Hakan; Yazıcı, Ayten; Kaşifoğlu, Timuçin; Bes, Cemal; Soy, MehmetÖğe Response rate of initial conventional treatments, disease course, and related factors of patients with adult-onset Still's disease: data from a large multicenter cohort(Academic Press Ltd- Elsevier Science Ltd, 2016) Kalyoncu, Umut; Solmaz, Dilek; Emmungil, Hakan; Yazıcı, Ayten; Kaşifoğlu, Timuçin; Bes, Cemal; Soy, MehmetBackground: Adult-onset Still's disease (AOSD) is a rare condition, and treatment choices are frequently dependent on expert opinions. The objectives of the present study were to assess treatment modalities, disease course, and the factors influencing the outcome of patients with AOSD. Methods: A multicenter study was used to reach sufficient patient numbers. The diagnosis of AOSD was based on the Yamaguchi criteria. The data collected included patient age, gender, age at the time of diagnosis, delay time for the diagnosis, typical AOSD rash, arthralgia, arthritis, myalgia, sore throat, lymphadenopathy, hepatomegaly, splenomegaly, pleuritic, pericarditis, and other rare findings. The laboratory findings of the patients were also recorded. The drugs initiated after the establishment of a diagnosis and the induction of remission with the first treatment was recorded. Disease patterns and related factors were also investigated. A multivariate analysis was performed to assess the factors related to remission. Results: The initial data of 356 patients (210 females; 59%) from 19 centers were evaluated. The median age at onset was 32 (16-88) years, and the median follow-up time was 22 months (0-180). Fever (95.8%), arthralgia (94.9%), typical AOSD rash (66.9%), arthritis (64.6%), sore throat (63.5%), and myalgia (52.8%) were the most frequent clinical features. It was found that 254 of the 306 patients (83.0%) displayed remission with the initial treatment, including corticosteroids plus methotrexate with or without other disease-modifying antirheumatic drugs. The multivariate analysis revealed that the male sex, delayed diagnosis of more than 6 months, failure to achieve remission with initial treatment, and arthritis involving wrist/elbow joints were related to the chronic disease course. Conclusion: Induction of remission with initial treatment was achieved in the majority of AOSD patients. Failure to achieve remission with initial treatment as well as a delayed diagnosis implicated a chronic disease course in AOSD. (C) 2016 Elsevier Ltd. All rights reserved.
