Clinical versus genetic diagnosis of familial Mediterranean fever

The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a mo lecular approach to diagnosis, which is already well established for diagno sing typical clinical forms of FMF. We evaluated the utility of this molecu lar approach in a large series of patients with various clinical presentati ons and ethnic origins. We looked for mutations in the MEFV gene in 303 uns elected consecutive patients with a variable (from high to low) clinical su spicion of FMF. Two mutations were found in 133 patients (44%). In 22 patie nts (7%), the clinical diagnosis of FMF was unlikely according to the Tel H ashomer clinical criteria. Our results suggest that the spectrum of FMF-ass ociated signs is broader than previously believed. Wider indications for ge notyping should lead to more frequent diagnosis of FMF.