Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF) is an autoinflammatory disorder causing recurrent self-limited attacks of fever, serositis, arthritis and erysipelas-like erythema. Persistent subclinical inflammation can lead to AA amyloidosis and renal failure if inadequately controlled.
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Genetics

Most often associated with biallelic pathogenic variants in MEFV and inherited as an autosomal recessive trait, although penetrance is variable and some heterozygous or dominantly acting variants can produce disease.

Molecular Mechanism

MEFV encodes pyrin, a regulator and sensor of cytoskeletal perturbation. Pathogenic variants lower the threshold for pyrin-inflammasome activation, causing excessive caspase-1 activity, interleukin-1 beta release and neutrophil-driven inflammation.

Therapy

Continuous colchicine is first-line treatment and prevents attacks and AA amyloidosis in most patients. Interleukin-1 blockade, particularly canakinumab or anakinra, is effective for colchicine-resistant or intolerant disease; inflammatory markers and renal risk require long-term surveillance.

CCP Activity

CCP designs human relevant disease models to define the relationship between MEFV genotype, pyrin-inflammasome activation and systemic inflammatory phenotypes.

Mouse Models Mouse Models & Gene Cards

Mouse ModelsGene Cards
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