Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease, and it is characterized by recurrent attacks of fever and polyserositis. The disease is associated with mutations in the MEFV gene encoding pyrin, which causes exaggerated inflammatory response through uncontrolled production of interleukin 1. The major long-term complication of FMF is amyloidosis. Colch...

Results Among 317 patients; 18 (7 females, 11 males) were enrolled. Consanguinity and family history of FMF were present in 28% and 56% of the patients, respectively. Clinical features seemed to be similar to general FMF patients; however, 50% of the patients were fussy children. The diagnosis of FMF was significantly delayed; the mean age at onset of therapy was 65.44 + 43.75 months. 38% of th...

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on chromosome 16. It is the most frequent periodic febrile syndrome among the autoinflammatory syndromes. Clinically, FMF can be distinguished into three phenotypes: type 1, which...

Familial Mediterranean fever (FMF) is a hereditary autosomal recessive ,systemic, auto-inflammatory disorder characterized by sporadic, unpredictable attacks of fever and serosal inflammation. FMF is caused by mutations in MEFV, a gene located on the short arm of chromosome 16 (16p13) which encodes a protein 'Pyrin'. The disorder has been given various names including familial paroxysmal polyse...

Introduction PFAPA syndrome is the most common autoinflammatory fever disorder in childhood, characterized by recurrent fever, aphthous stomatitis, pharyngitis and adenitis. Mutations in the MEFV and NLRP3 genes are known to cause syndromes with PFAPA overlapping symptoms (Familial Mediterranean Fever and Cryopyrin-Associated Periodic Syndrome), which are rarely reported in patients from Slovenia.