Table 1.
Demographic, clinical and laboratory findings and characteristic patterns of hearing loss in patients with Muckle-Wells syndrome (MWS)
| Patients | |
|---|---|
| N = 23 | |
| Demographics | |
| Median age at diagnosis of MWS [years] (range) | 18 (3–72) |
| Children ≤18 years at diagnosis (%) | 12 (52) |
| Females (%) | 15 (65) |
| NLRP3 mutation | |
| • c.937G>A (p.Glu313Lys) (%) | 14 (61) |
| • c.1049C>T (p.Thr350Met) (%) | 5 (22) |
| • c.598G>A (p.Val200Met) (%) | 4 (17) |
| Overall disease activity | |
| Median MWS-DAS at baseline (range) | 8 (6–16) |
| Laboratory markers | |
| Mean SAA at baseline in mg/l (std), (nl* <1) | 6.87 (1.43) |
| Mean CRP at baseline in mg/l (std), (nl* <0.05) | 0.22 (0.17) |
| Treatment | |
| IL-1 Inhibition (%) | 23/23 (100) |
| Anakinra (%) | 10 (43) |
| Canakinumab (%) | 13 (57) |
*nl: normal value