[Familial Mediterranean fever: report of a case]

Abstract

Familial Mediterranean fever is an autosomal recessive hereditary disease characterised by recurrent fever, poliserositis, chest and/or abdominal pain. Up to date diagnosis is based on clinical symptoms, familial anamnesis and response to colchicine. It is an inflammatory reaction affecting serosal tissues but until recently different hypotheses have been suggested to explain the greatly increased chemotactic activity of the polymorfonuclear leucocytes. Identification of the function of the MEFV gene on chromosome 16 and its protein allows us to understand the pathogenesis of familial Mediterranean fever as well as provides a new diagnostic test and therapeutic measures. We describe a case of an young patient and review the literature.