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

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