[Periodic fever syndromes]

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Periodic fever syndromes (PFS) are rare, hereditary autoinflammatory disorders characterized by recurrent fevers and systemic inflammation.
• Key examples include familial Mediterranean fever, TNF receptor-1 associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome.
• These distinct syndromes share common features but differ in clinical presentation and genetic underpinnings.

Purpose of the Study:

• To review the distinct clinical and genetic features of various periodic fever syndromes.
• To highlight the impact of improved genetic methods on understanding and diagnosing PFS.
• To discuss emerging therapeutic strategies, particularly biologic agents, for managing PFS and its complications.

Main Methods:

• Literature review of periodic fever syndromes.
• Analysis of genetic findings and diagnostic advancements.
• Evaluation of current and emerging treatment modalities, including targeted biologic therapies.

Main Results:

• Improved genetic methodologies have significantly enhanced the understanding and diagnostic capabilities for PFS.
• Systemic amyloidosis remains a primary complication associated with these syndromes.
• Interleukin-1 inhibitors have emerged as a promising and effective targeted biological therapy.

Conclusions:

• Periodic fever syndromes require accurate diagnosis through genetic analysis for effective management.
• Targeted therapies, especially IL-1 inhibitors, show significant promise in treating PFS and preventing severe complications like amyloidosis.
• Continued research into the genetic basis and therapeutic options for PFS is crucial for improving patient outcomes.