The SAA1 gene provides instructions for making a protein called serum amyloid A1. Levels of this protein increase in the blood and other tissues under conditions of inflammation.
During attacks, FMF patients have elevated levels of acute phase reactants, especially of SAA. This protein and related compounds may form abnormal clumps in the body's organs and tissues, especialy in kidney andlead to renal amyloidosis (RA) in some patients. This reactive systemic amyloidosis, called AA-amyloidosisis the major complication of FMF.
There are three versions of the serum amyloid A1 protein, known as alpha, beta, and gamma. SAA genotyping is recommended for some patients with FMF. The SAA1 alfa homozygous genotype and the M694V homozygous genotype at the MEFV locus are two main risk factors for RA.
Among people with certain other autoinflammatory disorders variants of the serum amyloid A1 protein also modify the risk of amyloidosis.
At present, a common therapy for FMF is daily use of colchicine, a medicine that reduces inflammation. It reduces or eliminates FMF attacks, prevents the occurrence of amyloidosis type AA. Colchicine must be taken regularly on a life-long basis.
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
(DNA test for identification of SAA1 gene allelic variants: α/α; β/β; γ/γ; α/β; α/γ; β/γ)
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