Table 1.
Patients’ demographic and clinical data
| Characteristic | N = 25 | ||||
| Female n° (%) | 12 (48) | ||||
| Male n° (%) | 13 (52) | ||||
| Age at start ERT (years) | |||||
| Mean ± SD | 27.2 ± 14.6 | ||||
| Range | 3–60 | ||||
| Duration of treatment (years) | |||||
| Mean ± SD | 15.0 ± 6.4 | ||||
| Range | 0–22 | ||||
| Patients ≤16y old at start of treatment, n° (%) | 7 (31.8) | ||||
| ERT variations and therapeutic results | |||||
| Baseline - T0 | Follow-up evaluation - Tx | ||||
| Mean ± SD | (Range) | Mean ± SD | (Range) | P | |
| ERT dose (U/Kg/Month) | 35.3 ± 14.2 | (15–60) | 66.5 ± 22.5 | (35–115) | - |
| Hemoglobin (g/dl) | 11.9 ± 1.5 | (9.4–14.8) | 14.3 ± 1.6 | (11.8–17.4) | <0.01 |
| Platelets (×10.000/mm3) | 155.7 ± 101.3 | (42–379) | 214.3 ± 94.4 | (107–526) | <0.05 |
| Gammaglobulin (mg/dL) | 1632.5 ± 877.1 | (587–4632) | 1164.5 ± 339.6 | (570–1832) | <0.01 |
| Liver volume (MN)* | 1.99 ± 0.82 | (0.8–3.6) | 0.93 ± 0.20 | (0.53–1.33) | <0.01 |
| Spleen volume (MN)* | 11.48 ± 6.22 | (1.3–20.3) | 2.97 ± 1.59 | (0.92–5.62) | <0.01 |
| BMD (Z-score) | −1 ± 1.40 | (−3.36;0.8) | −0.26 ± 1.28 | (−2.9;1.7) | - |
| Pain | 13 | 13 | |||
| Bone crisis | 7 | - | |||
| Zimran severity score index** | |||||
| Mild (≥0 to 10) | 16 | 21 | <0.05 | ||
| Moderate (≥11 to 25) | 5 | 1 | |||
| Severe (>25) | 1 | - | |||
*MN: multiple of normal value
**Zimran Z-score was available for 22 patients