Table 1.
Demographic and clinical characteristics of the study cohort by osteonecrosis status.
| Variable | Osteonecrosis—Free | Osteonecrosis—Historical | Osteonecrosis—Incident | p-Value |
|---|---|---|---|---|
| N | 73 (36M:37F) |
62 (28M:34F) |
11 (6M:5F) |
|
| Age, years, median (IQR) |
47 (34.4–60.3) |
47.7 (35.8–60.9) |
49.5 (39.2–66.8) |
0.446 |
| GENOTYPE, N % | ||||
| Homozygous N370S/N370S | 18 (25%) | 4 (6.5%) | 1 (9%) | 0.036 + |
| Homozygous L444P/L444P | 3 (4%) | 6 (10%) | - | |
| Homozygous other/other a | 1 (1%) | - | - | |
| Heterozygous N370S/L444P | 14 (19%) | 11 (18%) | 2 (18%) | |
| Heterozygous N370S/other a | 29 (39.7%) | 32 (52%) | 4 (36.5%) | |
| Heterozygous L444P/other a | 1 (1%) | 4 (6.5%) | - | |
| Heterozygous other/other a | 7 (10%) | 5 (8%) | 4 (36.5%) | |
| TYPE OF GAUCHER DISEASE, N % | ||||
| Type 1 | 68 (93%) | 55 (89%) | 10 (91%) | 0.665 + |
| Type 3 | 5 (7%) | 7 (11%) | 1 (9%) | |
| Age at Gaucher disease presentation, years, median (IQR) | 26.5 (13.8–37.8) |
8.2 (4.2–20.3) |
6.5 (4.4–25.3) |
<0.001 1, 2 ≠ 0 ‡ |
| OSTEONECROSIS, N % | ||||
| Symptomatic osteonecrosis events | - | 36 | 9 | 0.001 + |
| Asymptomatic osteonecrosis events | - | 30 | 11 | |
| Age at first osteonecrosis, years, median (IQR) | - | 25.07 (11.88–37.43) |
21.95 (12.6–37.8) |
0.845 # |
| FRACTURE, N % | ||||
| No | 69 (94.5%) | 46 (74%) | 7 (64%) | 0.001 + |
| Yes | 4 (5.5%) | 16 (26%) | 4 (36%) | |
| Age at first fracture, years, median (IQR) |
57.65 (16.85–61.59) |
45.39 (25.15–52.95) |
23.9 (13.7–34.8) |
0.176 |
| OSTEOARTHRITIS, N % | ||||
| No | 42 (58%) | 27 (43.5%) | 1 (9%) | 0.007 + |
| Yes | 31 (42%) | 35 (56.5%) | 10 (91%) | |
| Age at osteoarthritis diagnosis, years, median (IQR) | 43 (34.3–53.7) |
41.8 (33.7–52.4) |
40.4 (32.9–53.9) |
0.885 |
| ORTHOPEDIC PROCEDURE, N % | ||||
| No | 66 (90%) | 34 (55%) | 4 (36%) | <0.001 + |
| Yes | 7 (10%) | 28 (45%) | 7 (64%) | |
| Age at first orthopaedic procedure, years, median (IQR) | 46.1 (13–55.2) |
33.3 (14.83–47.65) |
46.9 (19.1–54.3) |
0.281 |
| Variable | Osteonecrosis—Free | Osteonecrosis—Historical | Osteonecrosis—Incident | p -Value |
| ERLENMEYER FLASK DEFORMITY (EFD), N % | ||||
| No | 49 (67%) | 22 (35.5%) | 4 (36%) | 0.001 + |
| Yes | 24 (33%) | 40 (64.5%) | 7 (64%) | |
| Age at EFD diagnosis, years, median (IQR) |
37.2 (25.5–48) |
36.02 (22.8–49.35) |
45.5 (34.3–49.4) |
0.567 |
| LYTIC LESION, N % | ||||
| No | 71 (97%) | 58 (94%) | 10 (91%) | 0.474 + |
| Yes | 2 (3%) | 4 (6%) | 1 (9%) | |
| Age at first lytic lesion, years, median (IQR) |
48.0 (27.3–68.8) |
30.6 (9.0–42.4) |
47.2 (47.2–47.2) |
0.343 |
| GAUCHER DISEASE TYPE 1 SEVERITY SCORING SYSTEM (GD-DS3) | ||||
| Bone domain, median (IQR) |
2 (0.3–3) |
4 (3–5) |
4.5 (3–6.3) |
<0.001 1, 2 ≠ 0 |
| Haematologic domain, median (IQR) | 0 (0–0.75) |
0 (0–0) |
0 (0–1) |
0.435 |
| Visceral domain, median (IQR) | 0 (0–1) |
0 (0–2) |
1 (0–3.3) |
0.057 |
| Total Gaucher DS3 score, median (IQR) | 2 (1–4) |
4 (3–6) |
6 (4–9) |
<0.001 1, 2 ≠ 0 ‡ |
| BONE MARROW TRANSPLANT, N % | ||||
| No | 73 (100%) | 60 (97%) | 11 (100%) | 0.253 + |
| Yes | - | 2 (3%) | - | |
| Age at bone marrow transplant, years, median (IQR) | - | 6.3 (1.7–10.8) |
- | - |
| SPLENECTOMY, N % | ||||
| No | 66 (90%) | 37 (60%) | 6 (55%) | <0.001 + |
| Yes | 7 (10%) | 25 (40%) | 5 (45%) | |
| Age at splenectomy, years, median (IQR) |
27 (24.09–54.05) |
11.72 (5.02–20.76) |
15.4 (7.2–21.7) |
0.011 1 ≠ 0 ‡ |
| GAUCHER SPECIFIC TREATMENT, N % | ||||
| No | 7 (10%) | 2 (3%) | - | 0.209 + |
| Yes | 66 (90%) | 60 (97%) | 11 (100%) | |
| Age at Gaucher specific treatment initiation, years, median (IQR) | 34.5 (25.4–45.01) |
29.25 (20.15–42.4) |
35.4 (20.4–45.9) |
0.555 |
| Time from Gaucher disease presentation and treatment initiation, years, median (IQR) |
3 (0.9–10.3) |
15.4 (4.4–24.3) |
16.9 (1–30.4) |
<0.001 1, 2 ≠ 0 ‡ |
| BONE TREATMENT, N % | ||||
| No | 28 (38%) | 20 (32%) | 3 (27%) | 0.652 + |
| Yes | 45 (62%) | 42 (68%) | 8 (73%) | |
| Variable |
Osteonecrosis—
Free |
Osteonecrosis—Historical | Osteonecrosis—Incident | p-Value |
| STEROID TREATMENT, N % | ||||
| No | 59 (81%) | 52 (84%) | 11 (100%) | 0.277 + |
| Yes | 14 (19%) | 10 (16%) | - | |
Continuous variables presented as median (interquartile range, IQR). Categorical variables presented as numbers (%). Kruskal–Wallis one-way ANOVA test; ‡ Dunn’s post-hoc test (0 = osteonecrosis-free; 1 = historical osteonecrosis; 2 = incident osteonecrosis); + Chi-square test; # Mann–Whitney test. a Other is defined as any allele other than N370S or L444P.