Table 4

Performance of Eurofever classification criteria in genetically uncertain patients

FMF (207 patients)TRAPS (78 patients)CAPS (38 patients)MKD (38 patients)
Overall sensitivity68%Overall sensitivity59%Overall sensitivity70%Overall sensitivity53%
Overall specificity87%Overall specificity84%Overall specificity95%Overall specificity89%
Percentage of patients positive according to the criteria for different genotypes
2 mutations (not in exon 10) (16 patients)75%R92Q mutation (53 patients)52%V198M mutation (13 patients)75%Heterozygous (24 patients)62%
1 mutation in exon 10 (92 patients)75%Other low-penetrance mutations (18 patients)47%Q703K mutation (7 patients)72%Genetically negative (7 patients)0%
1 mutation not in exon 10 (34 patients)55%Genetically negative (6 patients)83.3%Genetically negative (2 patients)50%Genetic test not done (7 patients)60%
No MEFV mutations (45 patients)51%Genetic test not done (1 patient)100%Genetic test not done (16 patients)69%
Genetic test not done (20 patients)75%
  • CAPS, cryopyrin-associated periodic syndromes; FMF, familial Mediterranean fever; MKD, mevalonate kinase deficiency; MEFV, Mediterranean fever; TRAPS, receptor-associated periodic fever syndrome.