From: Bone events and evolution of biologic markers in Gaucher disease before and during treatment
Characteristic | No. | At diagnosis | No. | At ERT onset | No. | At closing date |
---|---|---|---|---|---|---|
Years since diagnosis, median (range) | 0 | 14 (0 to 61) | 23.5 (2 to 67) | |||
Clinical involvement | ||||||
Pigmentation | 35 | 6% | 35 | 20% | 29 | 3% |
Asthenia | 45 | 42% | 52 | 60% | 53 | 26% |
Abdominal pain | 45 | 29% | 50 | 34% | 54 | 6% |
Chronic bone pain | 1 | 0% | 52 | 58% | 55 | 45% |
Bone crisis | 38 | 24% | 45 | 49% | 51 | 12% |
Hemorrhage | 44 | 52% | 53 | 43% | 53 | 9% |
Lung | 41 | 2% | 49 | 0% | 52 | 6% |
Neurological | 40 | 5% | 45 | 7% | 41 | 15% |
Other | 28 | 4% | 32 | 6% | 19 | 0% |
Splenectomy, n | 62 | 5 | 62 | 21 | 62 | 21 |
Organomegaly | ||||||
Hepatomegaly | 48 | 85% | 47 | 89% | 39 | 54% |
Liver US (median, range), cm | 23 | 16.5 (13 to 25) | 28 | 19 (13 to 30) | 9 | 14 (11.8 to 19) |
Splenomegaly | 40 | 100% | 41 | 95% | 30 | 67% |
Splenic US (median, range), cm | 34 | 18.75 (9.5 to 30) | 26 | 19.4 (9.5 to 31.5) | 11 | 15.2 (9 to 22) |
Biological parameter, median (range) | ||||||
Hemoglobin (g/dL) | 15 | 11.4 (7.9 to 14.1) | 55 | 12 (8.3 to 15.1) | 58 | 13.8 (7.3 to 16.2) |
Leukocyte (/mm3) | 15 | 4,300 (2,070 to 12,400) | 54 | 4,200 (1,180 to 21,600) | 57 | 6,130 (850 to 11,600) |
Platelet count (×103/mm3) | 57 | 88 (6 to 380) | 53 | 87 (30 to 449) | 58 | 165.5 (37 to 473) |
Chitotriosidase (nmol/mL/h)* | 28 | 9,501 (70 to 77,500) | 27 | 9,700 (180 to 77,500) | 53 | 1123 (8 to 14,893) |
TRAP (IU/L) | 23 | 11 (1 to 47) | 15 | 9.6 (1 to 24.5) | 36 | 3.75 (2 to 48) |
ACE (IU/L) | 28 | 259.5 (1 to 650) | 21 | 220 (1 to 650) | 46 | 51 (0.9 to 240) |
Ferritin (ng/L) | 38 | 682.5 (68 to 3,230) | 28 | 721.5 (120 to 3,230) | 47 | 167 (15 to 1,731) |
Gammaglobulin (g/L) | 2 | 17.7 (16.5 to 19) | 31 | 15.8 (7.2 to 25) | 47 | 12.7 (6.5 to 23.6) |
Imaging of bone disorders | ||||||
Erlenmeyer flask | 23 | 52% | 22 | 64% | 14 | 36% |
Osteopenia | 23 | 57% | 18 | 56% | 17 | 47% |
Cortical | 19 | 32% | 13 | 23% | 9 | 0 |
Lytic lesion | 19 | 26% | 14 | 21% | 15 | 33% |
Avascular necrosis sequelae | 27 | 37% | 17 | 29% | 13 | 23% |
Infarct sequelae | 22 | 32% | 15 | 40% | 12 | 25% |
Fracture sequelae | 18 | 17% | 11 | 0 | 11 | 27% |
Infiltration on MRI | 25 | 80% | 33 | 91% | 31 | 81% |
99mTc-Hyperfixation | 25 | 84% | 29 | 90% | 25 | 88% |
99mTc-Hypofixation | 4 | 50% | 5 | 20% | 3 | 0 |
Bone densitometry, median (range) | ||||||
T-score neck | 3 | -2.1 (-2.2 to -1.1) | 10 | -1 (-2.2 to 1.4) | 22 | 0 (-2.8 to 4.5) |
T-score lumbar | 13 | 0 (-3.1 to 1) | 10 | -1.9 (-4 to 0.8) | 22 | -0.9 (-3.6 to 1.6) |
Z-score neck | 7 | 8 (-2.03 to 8) | 7 | -0.7 (-2 to 1.9) | 15 | -0.3 (-2.6 to 4.4) |
Z-score lumbar | 2 | -2.4 (-3.1 to -1.8) | 8 | -1.3 (-3.1 to 0.5) | 15 | -0.5 (-3 to 2.1) |