Table 1.
Demographic characteristics of TRAPS patients described in the whole cohort of the study, according to age at onset and according to the penetrance of TNFRSF1A mutations. List of abbreviations: IQR: interquartile range; N.: number of patients; n.s.: not significant; SD: standard deviation; TNFRSF1A: tumor necrosis factor receptor super family member 1 A; TRAPS: tumor necrosis factor receptor-associated periodic syndrome.
| Whole TRAPS population | Pediatric onset group | Adult-onset group | p | High-penetrance TNFRSF1A mutations | Low-penetrance TNFRSF1A mutations | p | |
|---|---|---|---|---|---|---|---|
| Numerosity N. (%) | 80 (100%) | 44 (55%) | 36 (45%) | 32 (40%) | 44 (55%) | ||
| Male : female | 42 : 38 | 26 : 18 | 16 : 20 | n.s. | 19 : 13 | 20 : 24 | n.s. |
| Age at recruitment, years Median (IQR) or mean ± SD |
44.0 (31.0) | 41.7 ± 19.8 | 40.4 ± 15.8 | n.s. | 48.7 ± 18.1 | 38.8 ± 16.5 | 0.04 |
| Age at onset, years Median (IQR) or mean ± SD |
8.0 (16.2) | 4.9 ± 2.5 | 19.4 ± 2.5 | <0.001 | 5.0 (14.1) | 16.0 (26.5) | 0.01 |
| Age at diagnosis, years Mean ± SD |
32.9 ± 15.9 | 28.3 ± 16.4 | 35.0 ± 13.7 | 0.003 | 39.6 ± 17.0 | 30.3 ± 14.5 | 0.01 |
| Diagnostic delay, years Median (IQR) or mean ± SD |
18.0 (27.5) | 23.4 ± 16.0 | 15.6 ± 11.6 | <0.001 | 30.0 (26.0) | 7.0 (15.0) | <0.001 |
| Duration of disease at last visit, years Median (IQR) or mean ± SD |
26.0 (36.5) | 33.8 ± 19.8 | 14.2 ± 10.3 | 0.002 | 35.5 (27.3) | 12.0 (20.5) | 0.002 |
| Follow-up duration, years Median (IQR) |
6.0 (8.0) | 9.0 (8.5) | 5.0 (14.0) | n.s. | 8.0 (6.4) | 5.0 (9.5) | n.s. |