Table 1.
Follow-up of laboratory parameters and imaging findings
| Pre-treatmentb | Before first imiglucerase reaction | 34 months without treatment | Before first velaglucerase alfa infusion | After 6 velaglucerase alfa infusions | After 12 velaglucerase alfa infusions | |
|---|---|---|---|---|---|---|
| Age (years) | 2 | 11 | 13.3 | 14.3 | 14.6 | 14.9 |
| Height (cm) a | 73 | 122 | 132 | 132 | 132 | 132 |
| Weight (kg) | 9.0 | 23.6 | 29.7 | 29.7 | 30.1 | 31 |
| Hemoglobin (g/dL) | 8.3 | 13 | 8.6 | 8 | 10.7 | 12.6 |
| Platelets (1,000/mm 3 ) | 133 | 280 | 65 | 56 | 62 | 115 |
| Chitotriosidase (nmol/mL/h) | 8,627 | 1,808 | 15,117 | 19,878 | 15,814 | 13,074 |
| Liver c | 8.2 cm (longest axis) | 889 cm3 | Normal | 5,367 cm3 | 5,369 cm3 | ND |
| Spleen c (longest axis, in cm) | 12.1 | 9.5 | 17.5 | 27 | 17 | ND |
| Albumin (g/dL) | ND | ND | 3 | 2.9 | ND | 3.48 |
| Bone changes d | Kyphoscoliosis | Kyphoscoliosis | Osteolytic and osteoblastic lesions, Erlenmeyer flask deformity, and kyphoscoliosis | ND | ND | ND |
| BMD (T score) | −5.7 | ND | −4.6 | ND | ND | ND |
| BMB score | ND | ND | ND | 14 | ND | ND |
| Spirometry | ND | FEV1/FVC: 73% – air flow preserved | FEV1/FVC: 34.5 % – severe restrictive ventilatory defect | FEV1/FVC: 31.3 % – severe restrictive ventilatory defect | ND | ND |
| Severity Score Index (SSI) 28 | 24 | 28 | 31 | 33 | 32 | 29 |
aDifficult to measure due to bone changes
bShortly before first imiglucerase infusion
cOn ultrasound
dOn X-rays
BMD Bone mineral density – DEXA (Z score was not available), BMB score bone marrow burden (MRI), FEV 1 Forced expiratory volume in 1 s, FVC Forced vital capacity, ND Not done