Standardized Testing for Mutations in Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is an autoinflamma-tory disease mainly affecting populations surrounding the Mediterranean basin, with a genetic prevalence reaching 1–6 % (1). Patients suffer from seemingly unprovoked bouts of fever, peritonitis, and arthritis, which resolve spontaneously. FMF has long been recognized as the sole “periodic fever”. Diagnosis often took years to establish after the onset of symptoms, following costly and time-consuming elimination of other causes of inflammation. Biological tests were of little help, only demonstrating nonspecific increases in concentrations of acute-phase reactants. Identification of the responsible gene, MEFV, by positional cloning (2, 3) has revolutionized management of patients, who now benefit from specific diagnosis through mutation screening of MEFV. Systematic geneti