About Familial Mediterranean Fever
Familial Mediterranean Fever is the most common hereditary periodic fever syndrome, caused by gain-of-function mutations in MEFV encoding pyrin, a protein integral to inflammasome regulation, resulting in episodic uncontrolled interleukin-1 beta-mediated inflammation. Characteristic attacks of fever lasting 1-3 days are accompanied by serositis (peritoneal, pleural, or synovial), and attacks recur unpredictably throughout life. The most serious long-term complication is AA amyloidosis from chronic subclinical inflammation, which can lead to renal failure if colchicine therapy is insufficient or delayed.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Familial Mediterranean Fever trials.
Colchicine resistance or intolerance is the primary eligibility gate for IL-1 inhibitor trials (anakinra, canakinumab, rilonacept); document colchicine dose, duration, and reason for inadequate response
Renal function and 24-hour urine protein are screened in most trials to assess amyloid burden; have current nephrology assessments available
Attack frequency documentation (diary records showing at least 4-6 attacks per year) is typically required to confirm disease activity for interventional trial enrollment
Patient Resources
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