Familial Mediterranean fever (FMF) is an autosomal recessive disorder, primarily affecting populations in the eastern Mediterranean and Middle East. It is characterized by short, recurrent bouts of fever, accompanied by pain in the abdomen, chest, or joints, and an erysipelas-like erythema. Erythrocyte sedimentation rate is increased, but the white count is usually normal. Amyloidosis is a complication and may develop without overt crises of the above description. Given the intermittent and non-specific nature of the symptoms, many patients may go undiagnosed and consequently, untreated, for many years.
To date, around 20 FMF associated mutations have been identified in the Pyrin (also known as Marenostrin) gene on chromsome 16. Of these, current literature suggests that most, including the four most common (see table below) are localised to exon 10 of the Pyrin Gene. Consequently, the assay we offer is based upon nucleotide sequence analysis of the complete exon 10 coding region.