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Familial Mediterranean Fever (FMF) remains the most prevalent inherited inflammatory disorder, predominantly impacting populations of Mediterranean descent. Characterized by periodic episodes of fever and acute inflammation, the disorder can escalate into severe complications, notably systemic reactive (AA) amyloidosis, which potentially leads to organ failure. One of the groundbreaking advancements in the diagnosis and risk assessment of FMF and associated amyloidosis is the FMF StripAssay®.
FMF originates from mutations in the MEFV gene, responsible for the synthesis of a protein known as pyrin or marenostrin. These mutations exert a variable influence on the clinical manifestations of FMF, as well as on the risk for developing AA amyloidosis. The medical community currently relies on colchicine as a prophylactic treatment, reducing the occurrence of amyloidosis and enabling patients to maintain a normal life quality.
Amyloidosis results from the extracellular deposition of serum amyloid A (SAA) fragments, culminating in irreversible organ damage. It is of note that the homozygous condition of the SAA isotype SAA1.1 is associated with an elevated risk of developing AA amyloidosis in FMF patients.
The FMF StripAssay® leverages reverse-hybridization of biotinylated PCR products and utilizes allele-specific oligonucleotides immobilized on a test strip. The detection of bound biotinylated sequences is accomplished using streptavidin-alkaline phosphatase and color substrates, with the outcomes easily discernible to the naked eye.
The FMF StripAssay® follows a tripartite analytical framework:
The assay is intended for the clinical identification of mutations in the MEFV gene, based on a highly reliable methodology that encompasses DNA isolation, PCR amplification, and reverse-hybridization. It has the capability to cover 12 mutations in the MEFV gene, thereby offering an exhaustive view of FMF and its associated risk factors.
The FMF StripAssay® has emerged as a game-changer in the diagnostic landscape of FMF and associated amyloidosis risk. The technology’s precision, coupled with its streamlined procedure, places it at the forefront of personalized medicine. This innovation is poised to significantly augment the diagnostic accuracy, paving the path for timely therapeutic interventions and enhancing patient outcomes.