Unraveling the genome: Familial Mediterranean fever

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is a prevalent inherited autoinflammatory disorder in Mediterranean and Middle Eastern populations.
• Characterized by defects in innate immunity, FMF presents with recurrent fever, serosal inflammation, and potential kidney complications due to amyloidosis.
• While typically autosomal recessive, FMF can be associated with single MEFV mutations or dominant inheritance patterns.

Purpose of the Study:

• To summarize the clinical presentation, diagnosis, and management of Familial Mediterranean fever (FMF).
• To highlight the role of genetic testing in understanding FMF's heterogeneity and guiding patient-specific treatment.
• To emphasize the importance of early intervention in preventing severe complications like renal amyloidosis.

Main Methods:

• Clinical diagnosis based on Tel-Hashomer criteria.
• Confirmation through genetic testing of the MEFV gene.
• Treatment initiation with colchicine.

Main Results:

• Over 300 MEFV variants exist, but 9-11 are primarily responsible for FMF phenotypes.
• Colchicine effectively reduces FMF attacks and prevents renal complications.
• Genetic testing aids in personalized treatment and monitoring for conditions like renal amyloidosis.

Conclusions:

• FMF diagnosis relies on clinical criteria and genetic confirmation.
• Colchicine is the cornerstone of FMF management, preventing attacks and kidney disease.
• Understanding genetic heterogeneity and epigenetic factors is crucial for comprehensive FMF care and complication prevention.