[Periodic fever syndrome/autoinflammatory syndrome]

Area of Science:

• Genetics and Immunology
• Rheumatology

Context:

• Autoinflammatory syndromes are a group of rare genetic disorders.
• Characterized by recurrent fevers, inflammation, and potential organ damage.
• Includes monogenic and potentially polygenic conditions.

Purpose:

• To provide an overview of hereditary periodic fever syndromes.
• To discuss their genetic basis, clinical manifestations, and therapeutic approaches.
• To highlight the role of IL-1beta in pathogenesis.

Summary:

• Hereditary periodic fever syndromes present with relapsing fevers and diverse symptoms like rashes and joint pain.
• Some variants manifest without fever, showing organ involvement and elevated inflammatory markers (e.g., serum amyloid A).
• Monogenic forms are linked to specific gene mutations causing IL-1beta overproduction.

Impact:

• Understanding these syndromes aids in accurate diagnosis and management.
• Targeted therapies, such as IL-1 receptor antagonists (anakinra), are effective.
• Recognition of associated conditions like secondary amyloidosis is crucial.