What are recommendations for genetic diagnosis of familial Mediterranean fever (FMF)?

Updated: Apr 07, 2020
  • Author: John O Meyerhoff, MD; Chief Editor: Herbert S Diamond, MD  more...
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An expert committee of European pediatric rheumatologists has developed the following recommendations for genetic diagnosis of familial Mediterranean fever [17] :

  • FMF is a clinical diagnosis; it can be supported but not excluded by genetic testing.

  • FMF patients carrying two of the common mutated alleles (homozygotes or compound heterozygotes), especially for M694V mutation or mutations at position 680 to 694 on exon 10, must be considered at risk of having a more severe disease.

  • Patients homozygous for M694V mutation are at risk for early-onset disease and at very high risk of developing a severe phenotype; those who are not reporting symptoms should be evaluated and followed closely in order to consider therapy.

  • Patients with two pathogenic mutations for FMF who do not report symptoms but have risk factors for AA amyloidosis (eg, country of origin; family history; persistently elevated inflammatory markers, particularly serum amyloid A protein), should have close follow-up and be considered for treatment.

  • The E148Q variant is common and of unknown pathogenic significance; its presence as the only MEFV variant does not support the diagnosis of FMF.

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