FMF is the most common hereditary disorder among Armenians. The frequency of affected individuals in the Armenian population is 1 in 20 and the carrier rate of MEFV mutations is 1:3.
FMF is an autoinflammatory disorder described by self-limited recurrent episodes of fever and localized painful serosal inflammation mostly in the abdomen, chest, or joints. The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. Amyloidosis is the most severe complication of FMF and leads to renal failure.
At present, a common therapy for FMF is daily use of colchicine which reduces or eliminates FMF attacks and prevents the occurrence of amyloidosis. Colchicine must be taken regularly on a life-long basis.
FMF is almost always inherited in an autosomal recessive pattern, which means that both parents of an affected individual carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Specimen Requirements - 2 ml of peripheral blood collected in an EDTA (lavender top) vacutainer tube.
Transport - the specimen should be refrigerated (for 1or 2 days) and shipped at room temperature.
Reporting time - 10-15 days
Associated Test - SAA1 genotyping is recommended for some patients with FMF. The SAA1 / homozygous and the M694V homozygous genotype are two main risk factors for renal amyloidosis.
(DNA test for the 12 most common MEFV mutations and SAA1 genotypes)
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