Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective

Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty. Familial Mediterranean fever (FMF), the prototype of the autoinflammatory syndrome, is manifested with recurrent attacks of fever and serositis. Although most FMF patients present with a typical picture, approximately 10% of them, present with atypical phenotype, and may harbor no mutations in their MEFV gene. In these patients further genetic analysis may be advocated.