French protocol for the diagnosis and management of familial Mediterranean fever

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder globally.
• It predominantly affects individuals of Mediterranean descent, linked to mutations in the MEFV gene encoding pyrin.
• Characterized by recurrent fever, serositis, and inflammatory markers, FMF can lead to severe complications like renal amyloidosis.

Purpose of the Study:

• To establish national guidelines for FMF diagnosis, management, and follow-up in France.
• To promote a "treat-to-target" strategy for optimal patient outcomes.
• To address specific challenges including colchicine resistance, kidney failure, and pregnancy.

Main Methods:

• Clinical and anamnestic factor-based diagnosis.
• Confirmation through genetic analysis of the MEFV gene.
• Implementation of a "treat-to-target" approach with emphasis on colchicine compliance.

Main Results:

• Guidelines propose a structured approach to FMF management in France, estimating 5,000-10,000 patients.
• Colchicine remains the primary treatment to prevent flares and renal amyloidosis.
• A "treat-to-target" strategy is recommended, with colchicine resistance considered a diagnosis of elimination.

Conclusions:

• These guidelines provide a framework for standardized FMF care in France.
• Early diagnosis and consistent management, primarily with colchicine, are crucial for preventing long-term complications.
• Special considerations for kidney failure and pregnancy are integrated into the management plan.