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Standardized testing for mutations in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autoinflammatory 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 genetic characterization of patients with definite clinical criteria has revealed a limited number of recurring mutations, associated with the ancestral haplotypes (4) that were highlighted during the search for the gene. Five founding mutations, M694V, V726A, M680I, M694I (all four in exon 10), and E148Q (exon 2) in order of decreasing frequency, account for >70% of deleterious alleles. Several others are relatively prevalent, depending on the ethnic origin of the patient, e.g., A744S and I692del in Arabs, R761H in Armenians, and F479L in Greeks. Finally, approximately three-fourths of the remaining mutations were found only in single patients. Interestingly, no gross gene rearrangement has been found to date, strongly supporting the idea that such an alteration would lead to other phenotypes or would be lethal.

The number of laboratories providing genetic tests …