Familial Mediterranean Fever

Area of Science:

• Genetics and Immunology
• Autoinflammatory Diseases

Background:

• Familial Mediterranean Fever (FMF) is a prevalent hereditary periodic fever syndrome, primarily affecting Mediterranean populations but increasingly recognized globally.
• It is an autosomal recessive autoinflammatory disease linked to mutations in the MEFV gene, encoding pyrin, a regulator of IL-1β-mediated inflammation.

Purpose of the Study:

• To provide an overview of Familial Mediterranean Fever (FMF), including its genetic basis, clinical presentation, and management strategies.
• To highlight the role of pyrin and IL-1β in FMF pathogenesis and discuss diagnostic challenges related to genetic mutations.

Main Methods:

• Clinical diagnosis based on characteristic self-limited bouts of fever and serositis.
• Genetic analysis focusing on MEFV gene mutations, acknowledging cases with single or no mutations.
• Review of current treatment protocols and emerging therapies.

Main Results:

• FMF is characterized by recurrent fever and serositis, with AA amyloidosis as a major long-term complication.
• MEFV gene mutations, particularly those affecting pyrin function, are central to FMF pathogenesis.
• Colchicine is the primary treatment, effectively preventing febrile attacks and amyloidosis in most patients.

Conclusions:

• Familial Mediterranean Fever (FMF) requires lifelong management, primarily with colchicine, to mitigate disease activity and prevent severe complications like amyloidosis.
• Anti-IL-1 agents offer an alternative for patients unresponsive to colchicine, underscoring the importance of targeted inflammation control.