Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

摘要: Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following isolation of more than 280 MEFV sequence variants, genotype-phenotype correlation in FMF patients has been intensively investigated; however, an univocal and clear consensus not yet reached. Thus, aim this systematic review was to analyze available literature findings order provide scientific community indirect estimation impact genetic factors on phenotypic variability FMF. This conducted according Preferred Reporting Items for Systematic reviews Meta-Analysis (PRISMA) guidelines. The p.M694V mutation reported have a relatively severe clinical course, similarly, homozygous M694I M680I, or carrying combination both at codons 694 680, Also, M694V V726A variants experienced picture. Conversely, heterozygous p.V726A p.E148Q genotypes correlated with milder disease course. At present, doubts remain potential pathogenic role E148Q variant. heterogenity manifestations reflects changes occuring repertoire mutations. We believe that criteria gene tests, enhancing each other, could better support diagnosis