Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, characterized by recurrent, self-limited inflammatory attacks beginning in childhood. Pathogenic variants in the MEFV gene lead to dysregulation of the pyrin inflammasome, excessive interleukin-1β production, and a persistently lowered inflammatory threshold. Although traditionally considered autosomal recessive, FMF demonstrates complex inheritance with clear genotype-phenotype correlations, particularly for high-penetrance mutations such as M694V. Genetic diagnosis confirms the diagnosis. Colchicine is the cornerstone of therapy and prevents Amiloid A (AA) amyloidosis, while interleukin-1 inhibitors offer effective alternatives in colchicine-resistant or intolerant patients.