Table 1

Genotype and clinical characterisation of FMF patient cohort

Case NoMEFV mutationESR (mm/1 h)CRP (mg/dl)SAA (mg/dl)Clinical manifestationsColchicine treatment
1K695R/K695R314.56157AbsentYes
2E148Q<10<0.460AbsentNo
3M680I/M608I436.15650AbsentYes
4M694I/M604V<10<0.460AbsentYes
5E148Q<10<0.460AbsentYes
6S108R-V726A in cis<10<0.460AbsentYes
7S108R-V726A in cis<10<0.460AbsentNo
8E148Q<10<0.460AbsentNo
9M680l-E225G in cis/E148QN/AN/AN/AAbsentYes
10M680l-E225G in cis<10<0.460AbsentYes
11M694V/V726A<10<0.460AbsentYes
12M694V/V726A<10<0.460AbsentNo
13M694V/V726A<10<0.460AbsentYes
14M680l/R761H<10<0.460AbsentYes
15M694V<10<0.460AbsentYes
16M694VN/AN/AN/AAbsentYes
17F479L/F479L<10<0.460AbsentYes
18M694V/M694V559.57634AbsentYes
19A408Q-P369S in cis492.690AbsentYes
20M694V<10<0.460AbsentYes
21R42W/E230K230.6250AbsentNo
  • CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; FMF, familial Mediterranean fever; N/A, not applicable; SAA, serum amyloid A.