Evaluation of genetic analysis, clinical findings and treatment response in familial mediterranean fever patients

Objective: FMF is an autosomal recessive disease characterized by recurrent episodes of fever and serositis. The aim of this study is to evaluate the relationship between MEFV gene mutation, clinical findings and laboratory tests. Materials and Methods: 100 patients with FMF were included in the study. Clinical and laboratory parameters were examined. For MEFV whole gene sequence analysis, the results of Çukurova University Medical Faculty Genetic Diseases Diagnosis and Treatment Center were used. Genetic analysis was performed using Sanger sequencing, Next generation sequencing (NGS), Pyrosekans methods. Statistical analysis was performed using IBM SPSS Statistics Version 20.0. Results: The most common mutation in the study was the R202 Q mutation (40%). A statistically significant correlation was found between fever detected at the time of diagnosis and M694V mutation (p<0.05). A statistically significant correlation was found between the fever detected during the attack and the M680I mutation (p<0.05). A statistically significant correlation was found between the joint finding during the attack and the M680I mutation (p<0.05). A statistically significant correlation was found between the finding of EBE (erysipelas-like erythema) at diagnosis and at the time of attack and M694V homozygous and combined M694V/R202Q homozygous mutation (p<0.05). Conclusion: The most common mutation in our study was the R202Q gene mutation. Typical clinical findings of FMF can be observed in patients with this gene mutation, as in patients with exon 10 mutations. These results show that Familial Mediterranean Fever is a disease where both genotypic and phenotypic findings should be evaluated together. Compared with other mutations, clinical symptoms were more pronounced in patients with M694V and M680I mutations at diagnosis and during attacks. EBE findings were more common in patients with M694V mutation. As a result, it was thought that patients with M694V, M680I mutations could progress with more severe clinical findings. Keywords: Familial Mediterranean Fever, MEFV gene mutation analysis, Relationship between mutations and disease.