Table 2 Genotype-phenotype correlations in more than three patients with the same mutation
|  | Patients, number | Age at onset, years | Frequency of attacks per year | Duration of attacks (days) | Fever ≥38°C | Peritonitis | Pleuritis | Arthritis | Efficacy of colchicine | |
|---|---|---|---|---|---|---|---|---|---|---|
Mean (± SD) | Range | Median (min, max) | Median (min, max) | % | % | % | % | % | ||
E148Q/M694I | 15 | 18.8 ± 7.8 | 9 to 34 | 12 (2.5, 54) | 2.5 (0.75, 8.5) | 93.3 | 66.7 | 66.7 | 26.7 | 100 (n = 11) |
L110P/E148Q/M694I | 14 | 20.4 ± 8.7 | 13 to 46 | 12 (2, 30) | 3 (2, 7) | 85.7 | 85.7 | 78.6 | 50 | 100 (n = 12) |
M694I/wild-type | 13 | 20.2 ± 11.4 | 3 to 42 | 9 (3, 48) | 2.5 (0.08, 3) | 92.3 | 92.3 | 61.5 | 30.8 | 100 (n = 12) |
L110P/E148Q | 13 | 15.2 ± 11.6 | 2 to 48 | 5.5 (1.5, 18) | 3.3 (1, 17.5) | 84.6 | 69.2 | 0 | 38.5 | 83.3 (n = 6) |
L110P-E148Q/E148Q | 6 | 35.5 ± 15.1 | 18 to 65 | 12 (3, 12) | 5 (0.75, 8.5) | 50 | 66.7 | 50 | 16.7 | 100 (n = 3) |
E148Q/wild-type | 21 | 26.5 ± 12.1 | 7 to 61 | 4 (1, 24) | 2.5 (1, 75) | 81 | 52.4 | 42.3 | 47.6 | 81.8 (n = 11) |
P369S/R408Q | 4 | 35.5 ± 16.7 | 14 to 60 | 24 (6, 48) | 5.8 (0.2, 19) | 75 | 25 | 25 | 50 | 50 (n = 2) |
L110P/E148Q/ P369S/R408Q | 4 | 18.3 ± 8.9 | 6 to 31 | 18 (5, 24) | 4 (2.5, 7) | 100 | 25 | 50 | 25 | 50 (n = 2) |
R202Q/wild-type | 8 | 32.4 ± 19.4 | 11 to 68 | 15 (4, 48) | 5.8 (1, 14) | 87.5 | 50 | 25 | 75 | 33.3 (n = 3) |
E84K/wild-type | 3 | 20.7 ± 6.2 | 14 to 29 | 4 (2, 12) | 3 (1.5, 3.5) | 100 | 0 | 33.3 | 33.3 | NE |