Familial Mediterranean fever (FMF)

Familial Mediterranean fever (FMF)

Familial Mediterranean fever is the most common monogenetic autoinflammatory syndrome

• Autoinflammatory syndrome caused by autosomal recessive mutations in the MEFV locus (encodes the pyrin protein; on chromosome 16p. Over 80 mutations have been described.

• MEFV mutations are most likely gain-of-function and ultimately lead to increased IL-1β activation and increased activation of the innate immune system.

• Of note, 10% to 20% of patients with a classic FMF phenotype do not carry MEFV mutations.

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