Detect pathogenic MEFV variants in Familial Mediterranean Fever (FMF) patients and assess the risk for AA amyloidosis.
Familial Mediterranean Fever (FMF) is characterized by recurrent episodes of fever accompanied by painful inflammatory events. The FMF StripAssays® identify the most frequent disease-causing variants in the MEFV gene and risk factors for AA amyloidosis.
Familial Mediterranean Fever (FMF)
- FMF is the most prevalent monogenic autoinflammatory disease mainly affecting people of Mediterranean descent.
- Mutations in the MEFV gene were found to underlie the development of FMF.
- A severe long-term complication is systemic reactive (AA) amyloidosis, which is characterized by extracellular deposition of proteolytic fragments of serum amyloid A (SAA) ultimately leading to organ damage.
- The homozygous condition of the SAA isotype SAA1.1 is significantly linked to AA amyloidosis in patients with FMF.