Approach to an incidental finding of a germline variant in the familial Mediterranean fever (FMF) gene, MEFV

Individuals with confirmed FMF are treated with colchicine.

• Refer to UpToDate for FMF features, diagnosis, and management.
• For inheritance patterns of specific variants, refer to UpToDate, use a resource such as ClinVar, or consult with a genetics or FMF expert.

Individuals with suggestive symptoms and negative genetic testing for MEFV may have FMF or another condition and are likely to benefit from specialist referral and additional testing, which may include MEFV sequencing or testing for related conditions including TRAPS and MKD.