Table 1 Characterization of adults' patients with Gaucher disease type 1 in our unit and in the study cohort
From: Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease
| SZMC unitb | Study cohort | ||||
|---|---|---|---|---|---|
| Total | Untreated | Treated | p value* | ||
| Number | – | 192 | 68 | 124 | |
| Age, yearsa |
Untreated 45 (22–83) Treated 49 (19–91) | 48 (20–91) | 47 (20–76) | 49.5 (22–91) | NS |
| Female |
Untreated 61% Treated 54% | 111 (57.8%) | 43 (62.3%) | 68 (54.8%) | NS |
| Severity score indexa |
Untreated 2 (0–13) Treated 7 (1–25) | 5 (0–25) | 2 (0–13) | 7 (2–25) | < 0.0001 |
| Homozygosity to the c.1226A>G (N370S) mutation |
Untreated 80% Treated 62% | 133 (69.3%) | 57 (83.8%) | 75 (60.5%) | 0.001 |