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People in Greece may be spared the risk of amyloidosis or unnecessary operations by testing for pyrin gene mutations to diagnose familial Mediterranean fever (FMF) early, according to a molecular study. Further, detailed molecular studies are needed to identify rare or new mutations among the population.
Pyrin mutations were found in 53 of 62 patients of Mediterranean origin diagnosed clinically as having FMF. Forty two were homozygous or compound heterozygous for pyrin mutations; 11 had just one mutation; and nine had no mutations. Among 33 patients with definite FMF, 29 were homozygous or compound heterozygous; three had one mutation; and one none. For 29 patients with probable FMF, 13 were homozygous or compound heterozygous; eight had one mutation, and eight no mutation. Eight different pyrin mutations were found in Greek patients, most commonly E148Q (24%) and M694V (46%).
The 62 patients were all referred with definite or probable FMF; 48 were Greek and the others Armenian, Jewish, or Arab. Each was tested for nine of more than 28 known MEFV point mutations.
FMF is an inherited inflammatory condition with a relapsing course that produces fever; synovitis; and abdominal, chest, and skin signs and in the long term may result in amyloidosis. Mediterranean peoples are most at risk. FMF is rarely diagnosed in Greece, but significant migration of other racial groups with a high incidence of the disease into the country suggests that it may become widespread. Therefore reliable screening would be warranted.