Familial Mediterranean Fever (FMF) - Diagnosis and Management Summary
Autoinflammatory disorder due to mutations in MEFV gene; autosomal recessive
inheritance; characterized by recurrent bouts of fever and serosal inflammation
• Epi: Most common in Jews, Armenians, Turks, and Arabs. Onset <10 yrs old (65% pts), <20 yrs old (90% pts)
• Sx: Recurrent acute attacks (1-3 days, resolve spontaneously) of fever associated w/ peritonitis (often mistaken for surgical abdomen), unilateral pleuritis, arthritis (monoarticular, sterile joint), or skin lesions (erysipelas-like). Other manifestations include: exertional myalgia, pericarditis, testicular pain, and aseptic meningitis.
o Long-term complications: Secondary (AA) amyloidosis: renal disease (major cause of mortality), SBO, infertility
• Dx: During acute attack: ↑ WBC, ↑ ESR/CRP. Check UA for amyloidosis (proteinuria). Genetic testing for confirmation.
o Diagnostic criteria: Livenh et al. Requires 1 major or 2 minor criteria. (Arthritis Rheum 1997; 40:1879)
• Rx: Colchicine 1-3 mg/day (to prevent acute attacks and progression to amyloidosis). 5-10% colchicine resistant, add on IL-1 inhibitors.
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