What is the role of genetic testing in the workup of familial Mediterranean fever (FMF)?

Updated: May 14, 2018
  • Author: John O Meyerhoff, MD; Chief Editor: Herbert S Diamond, MD  more...
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Answer

Genetic testing is now available for FMF. Testing for a limited number of genes may be appropriate in patients with a known ethnic background. Complete gene sequencing may be more helpful in patients of mixed or unknown ethnicity. Symptomatic patients with at least one MEFV mutation should be considered to have FMF. Patients with no gene mutations who meet criteria for FMF should be offered a trial of colchicine. Given the high gene frequency and low penetrance in certain populations (eg, Ashkenazi Jews, Armenians), gene testing should be closely correlated to clinical findings to avoid false-positive results.


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