Table 1.
Characteristics of the patients in the core study cohort.
| Controls | Asymptomatic heterozygous M694V carriers | Patients with two mutations within MEFV other than M694V homozygosity | Homozygous M694V FMF patients | Other inflammatory diseases (total) | Infections | Cystic fibrosis | Crohn's disease | Rheumatic diseases | TRAPS | Immunodeficiencies | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients, no | 9 | 6 | 7 | 5 | 23 | 6 | 5 | 4 | 4 | 2 | 2 |
| No. male/no. female | 4/5 | 3/3 | 4/3 | 4 /1 | 19/4 | 6/0 | 4/1 | 4/0 | 2/2 | 1/1 | 2/0 |
| Age at inclusion, mean (range) years | 42 (27–61) | 45 (40–51) | 19 (15–29) | 19 (15–25) | 41 (10–82) | 59 (37–82) | 32 (19–47) | 23 (16–41) | 54 (19–74) | 26 (10–41) | 41 (24–53) |
| Mean severity (SD) | n.a. | n.a. | Attack frequency/in last 12 months: 0 | Attack frequency/in last 12 months: 3 (6) |
n.a. | n.a. | Bilton score: 4 (0.71) |
Harvey–bradshaw score: 6.75 (1.50) |
DAS 28: 4.3 (0.50) |
n.a. | n.a. |
| Genotype | n.a. | 6 × heterozygous M694V | 2 × M694V/V726A, 2 × M694V/M680I, 1 × M694V/V726A/E148Q, 1 × M694V/A744S, 1 × M680I homozygous | M694V homozygous | n.a. | n.a. | 1 × F508del and 1717-1 G>A, 4 × F508del/ F508del |
n.a. | n.a. | 2 × heterozygous T50M | 1 × gp91phox |
| Inflammation markers in serum | |||||||||||
| CRP, median (range), mg/L | 1.0 (<0.3–6.0) | 3 (0.8–5.8) | 3 (0.3–8) | 82.1 (1.3–112.5) | 18.4 (0.3–182.8) | 84.9 (39.6–182.8) |
18.4 (8.2–66.1) | 14.9 (2.9–55.5) | 9.5 (3.0–50.7) | 1.0 (0.3–1.9) | 5.2 (1.5–8.9) |
| S100A12, median (range), ng/ml | 362 (55–966) | 456 (236–570) | 710 (354.6–43,154) | 9,725 (1,267–12,864) | 325 (73–1,189), n = 8 |
n = 0 | 568 (375–761), n = 2 |
236, n = 1 |
471 (276–1,189), n = 3 |
95 (73–116) | n = 0 |
| Caspase-1, median (range), pg/ml | 158 (53–254) | 263 (140–275) | 207 (107–424) | 394 (265–1,552) | 157 (59–108) | 154 (75–800) | 157 (103–302) | 119 (64–257) | 251 (165–31) | 62 (59–64) | 113 (65–161) |
| IL-18, median (range), pg/ml | 189 (106–243) | 442 (245–651) | 2,699 (571–7,322) | 11,485 (4,054–18,028) | 309 (138–15,221) | 397 (139–1,350) | 261 (138–398) | 209 (192–493) | 5,163 (758–15,221) |
338 (306–370) | 381 (227–535) |
CRP, C-reactive protein; IL-18, interleukin-18.
Cutoff for inflammation markers: CRP <5 mg/l; S100A12 <140 ng/mg. IL-18 in healthy controls is 169 pg/ml [117, 243] (16). In case of incomplete data on individual serum marker concentration, the number of analyzed samples is indicated.