Familial Mediterranean fever: current perspectives

Area of Science:

• Immunology
• Genetics
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease.
• It presents with recurrent fever and polyserositis, linked to MEFV gene mutations causing excessive interleukin-1 production.
• Amyloidosis is a significant long-term complication, and colchicine is the primary treatment to prevent attacks and chronic inflammation.

Purpose of the Study:

• To review current perspectives on Familial Mediterranean fever (FMF).
• To incorporate recent recommendations for genetic testing and diagnosis of FMF.
• To discuss the evolving understanding of FMF's complex etiopathogenesis and genetics.

Main Methods:

• Literature review of current research and recent guidelines on FMF.
• Analysis of the genetic basis and clinical manifestations of FMF.
• Synthesis of information regarding diagnostic criteria and therapeutic strategies.

Main Results:

• FMF is increasingly recognized as more complex than a simple autosomal recessive disorder.
• New recommendations provide guidance for genetic testing and diagnosis.
• Understanding of FMF pathogenesis has advanced, influencing management approaches.

Conclusions:

• Recent advancements offer a more nuanced view of FMF, moving beyond traditional genetic models.
• Updated recommendations are crucial for accurate genetic diagnosis and effective patient management.
• Continued research into FMF pathogenesis is essential for improving long-term outcomes and preventing complications like amyloidosis.