[Familial mediterranean fever]

Area of Science:

• Genetics and Immunology
• Auto-inflammatory Diseases

Context:

• Familial Mediterranean Fever (FMF) is the most prevalent monogenic auto-inflammatory disorder globally.
• Diagnosis in children from Mediterranean regions is suggested by recurrent febrile attacks, abdominal pain, and inflammatory markers.

Purpose:

• To summarize the key aspects of Familial Mediterranean Fever (FMF), including its diagnosis, management, and pathophysiology.
• To highlight the role of MEVF gene mutations and the significance of colchicine treatment.
• To introduce emerging targeted therapies based on interleukin-1 (IL1) inhibition.

Summary:

• FMF diagnosis is confirmed by identifying mutations in the MEVF gene, particularly in exon 10.
• Long-term colchicine therapy is crucial for preventing FMF attacks and secondary amyloidosis.
• Interleukin-1 (IL1) plays a central role in FMF pathophysiology, paving the way for IL1-blocking agents as second-line treatments for resistant cases.

Impact:

• Establishes colchicine as a cornerstone therapy for FMF, significantly reducing morbidity.
• Highlights the importance of genetic testing for timely FMF diagnosis and management.
• Opens avenues for advanced targeted therapies, such as IL1 inhibitors, for refractory FMF cases.