pediatrics
Familial Mediterranean Fever
Diagnosis of Familial Mediterranean Fever
Clinical evaluation Genetic testing ) ( Diagnosis references ), but genetic testing is available and is particularly useful in evaluation of atypical cases. However, current genetic testing is not infallible; some patients with phenotypically unmistakeable FMF have only a single mutated gene or occasionally no evident mutations in the Nonspecific findings include elevations in white blood cells with neutrophil predominance, erythrocyte sedimentation rate, C-reactive protein, and fibrinogen. Urinary excretion of>0.5 g protein/24 hours may suggest renal amyloidosis. includes Acute Porphyrias , 1.Livneh A, Langevitz P, Zemer D, et al: Criteria for the diagnosis of familial Mediterranean fever.Arthritis Rheum40(10):1879–1885, 1997. doi: 10.1002/art.1780401023 2.Booty MG, Chae JJ, Masters SL, et al: Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?Arthritis Rheum60(6):1851–1861, 2009. doi: 10.1002/art.24569 