Familial Mediterranean fever: clinical, molecular and management advancements

Area of Science:

• Genetics and immunology
• Autoinflammatory diseases

Background:

• Familial Mediterranean fever (FMF) is the most common periodic fever syndrome.
• It is an autosomal recessive disorder primarily affecting individuals of Mediterranean descent.
• FMF is caused by mutations in the MEFV gene, impacting the pyrin protein and interleukin-1 inflammation.

Observation:

• FMF presents as recurrent attacks of serositis (abdomen, chest, joints) with fever and elevated acute-phase reactants.
• Attacks are self-limiting, typically lasting 1-3 days without lasting damage.
• Secondary amyloidosis is a severe complication of untreated FMF.

Findings:

• Continuous colchicine therapy (1-2 mg daily) is the standard treatment for FMF.
• Colchicine significantly reduces the frequency, duration, and intensity of FMF attacks.
• Prophylactic colchicine prevents the development of amyloidosis in most FMF patients.

Implications:

• Early diagnosis and consistent colchicine treatment are crucial for managing FMF.
• Effective management improves patient quality of life and prevents long-term morbidity.
• Understanding FMF pathogenesis informs research into other autoinflammatory conditions.