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.
Citations:
1. Kriegshäuser G., et al., 2024. Plasminogen activator inhibitor-1 genotype 4G/5G associates with skin involvement in Armenian familial Mediterranean fever patients. Rheumatology international vol. 44,11: 2555-2559. doi:10.1007/s00296-024-05653-x.
2. Kriegshäuser G., et al., 2021. Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia. Clinical and experimental rheumatology vol. 39 Suppl 132,5: 18-21. doi:10.55563/clinexprheumatol/hvktbk.
3. Sotskiy P., et al., 2021. Infertility Causes and Pregnancy Outcome in Patients With Familial Mediterranean Fever and Controls. The Journal of rheumatology vol. 48,4: 608-614. doi:10.3899/jrheum.200574.
4. Kriegshäuser G., et al., 2021. Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V. Rheumatology (Oxford, England) vol. 60,1: 441-444. doi:10.1093/rheumatology/keaa452.
5. Kriegshäuser G., et al., 2018. Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever. Genetics in medicine : official journal of the American College of Medical Genetics vol. 20,12: 1583-1588. doi:10.1038/gim.2018.46.