The diagnosis of familial Mediterranean fever (FMF) is based upon three factors: typical clinical manifestations, a positive response to colchicine therapy, and genetic testing, although currently available tests do not detect all mutations associated with FMF.
Diagnostic Criteria of Familial Mediterranean Fever (FMF)
- Recurrent febrile episodes associated with peritonitis, pleuritis or synovitis
- Amyloidosis of AA-type without a predisposing disease
- Favorable response to daily colchicine
- Recurrent febrile episodes
- Erysipelas-like erythema
- Positive history of familial Mediterranean fever in a first degree relative
Definite Diagnosis: 2 major or 1 major + 2 minor criteria.
Probable Diagnosis: 1 major + 1 minor criteria.
Typical attacks of:
- Peritonitis (generalized)
- Pleuritis (unilateral) or pericarditis
- Monoarthritis (hip, knee, or ankle)
- Fever alone
Incomplete abdominal attacks
1-2 Incomplete attacks affecting one or more sites
- Exertional leg pain
- Response to colchicine
Definitive diagnosis: 1 major criterion or 2 minor criteria.
Typical attacks are defined as recurrent (>/=3 of the same type), febrile (rectal temperature of 38°C (100°F) or higher), and short (lasting between 12 hours and 3 days).
Incomplete attacks are defined as painful and recurrent, differing from typical attacks in 1 or 2 features, as follows:
- The temperature is normal or lower than 38°C (100°F)
- The attacks are longer or shorter than specified (but no shorter than 6 hours or longer than a week)
- No signs of peritonitis are recorded during the abdominal attacks
- The abdominal attacks are localized
- The arthritis is in joints other than those specified.
Turkish Pediatric Criteria
- Fever: axillary temperature >38 °C, duration 6–72 h and >/=3 attacks
- Abdominal pain: duration 6–72 h and >/=3 attacks
- Chest pain: duration 6–72 h and >/=3 attacks
- Arthritis: duration 6–72 h, >/=3 attacks, and oligoarthritis
- Family history of FMF
Definitive diagnosis: The presence of at least 2 out of 5 criteria.
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- Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015 Apr;74(4):635-41. [Medline]
Created Jun 22, 2015.