This is a genotype with recommended actions if clinically confirmed. In brief:
- Familial Mediterranean Fever (FMF) is an autoinflammatory fever syndrome characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, and pleuritis.
- The main long-term complication is amyloid A (AA) amyloidosis, common in untreated individuals, which can lead to renal failure. Untreated individuals with FMF, especially those with multiple attacks and/or amyloidosis, are at higher risk for infertility.
- All individuals with FMF, including those not currently being treated, those being treated with colchicine, and those receiving medication other than colchicine should undergo an annual physical examination, a urine spot test for protein, and an evaluation for hematuria.
- Monitoring of acute-phase reactants (ESR and fibrinogen levels) at regular intervals during attack-free periods is recommended, particularly in those with the M694V variant.
The full ClinGen Actionability report about Familial Mediterranean Fever (FMF) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.