hrp0097p2-225 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023
Cristina Maggio Maria
, Romano Domenico
, Callari Simonetta
, Corsello Giovanni
Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...