[Familial Mediterranean fever in 2020]

Area of Science:

• Genetics and immunology
• Autoinflammatory diseases
• Molecular medicine

Background:

• Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder.
• It typically follows autosomal recessive inheritance and is linked to mutations in the MEFV gene, which encodes pyrin.
• Characteristic symptoms include recurrent fevers, serositis, and elevated inflammatory markers in individuals of Mediterranean descent.

Purpose of the Study:

• To review the understanding of FMF pathogenesis.
• To highlight the role of interleukin-1 beta (IL-1β) as a therapeutic target.
• To discuss current and emerging treatment strategies for FMF.

Main Methods:

• Literature review of FMF pathogenesis and treatment.
• Analysis of clinical data on colchicine and anti-IL-1 therapies.
• Focus on genetic mutations and inflammatory pathways.

Main Results:

• Colchicine effectively prevents FMF attacks and amyloidosis, a complication leading to renal failure.
• Interleukin-1 beta (IL-1β) is identified as a central cytokine in FMF pathogenesis.
• Anti-IL-1 therapy shows efficacy in patients with persistent inflammation or colchicine intolerance.

Conclusions:

• Understanding FMF mechanisms has identified IL-1β as a crucial target.
• Colchicine remains the first-line treatment, but anti-IL-1 therapies are vital for refractory cases.
• Targeting IL-1β offers a significant advancement in managing FMF and preventing long-term complications like nephrotic syndrome.