Characteristic | No. | At diagnosis | No. | At ERT/SRT onset | No. | At closing date |
---|---|---|---|---|---|---|
Years since diagnosis, median (range) [IQR] | 247 | – | 247 | 9.2 (0–47) [1.5;17.7] | 247 | 17.6 (0.1–66.2) [9.3;26.2] |
Age, years, median (range) [IQR] | 247 | 22.2 (0.5–67.5) [8.7;34.7] | 247 | 36 (1–79) [20.9;48.2] | 247 | 43.4 (3.2–82.4) [29.9;56.7] |
Clinical involvement, n (%)* | ||||||
Pigmentation | 184 | 10 (5.4) | 186 | 14 (7.5) | 167 | 1 (0.6) |
Asthenia | 184 | 84 (45.7) | 186 | 106 (57) | 167 | 44 (26.3) |
Abdominal pain | 184 | 29 (15.8) | 186 | 43 (23.1) | 167 | 8 (4.8) |
Chronic bone pain | 184 | 70 (38.0) | 186 | 79 (42.5) | 167 | 41 (24.6) |
Bone crisis | 184 | 25 (13.6) | 186 | 46 (24.7) | 167 | 12 (7.2) |
Bleeding | 184 | 57 (31) | 186 | 58 (31.2) | 167 | 12 (7.2) |
Neurological sign | 184 | 7 (3.8) | 186 | 14 (7.5) | 167 | 9 (5.4) |
Other | 184 | 11 (6) | 186 | 10 (5.4) | 167 | 42 (25.1) |
Body mass index, kg/m2, median (range) | 49 | 16.6 (13.6–28.1) | 78 | 20.3 (13.6–28.1) | 53 | 22.2 (14.6–34.4) |
Underweight, n (%) | 31 (62.3) | 31 (39.7) | 7 (13.2) | |||
Normal, n (%) | 14 (28.6) | 41 (52.6) | 35 (66.0) | |||
Overweight/obese, n (%) | 4 (8.1) | 6 (7.7) | 11 (20.8) | |||
Liver and spleen* | ||||||
Splenectomy, n (%) | 247 | 41 (16.6) | 247 | 63 (25.5) | 247 | 65 (26.3) |
Splenomegaly†, n (%) | 176 | 174 (98.9) | 129 | 124 (96.1) | 76 | 42 (55.3) |
Splenic US, median (range) of largest diameter, cm | 54 | 15.8 (10–32) | 86 | 18.9 (10–41) | 44 | 13.6 (8–24) |
Hepatomegaly, n (%) | 146 | 116 (79.5) | 140 | 118 (84.3) | 90 | 40 (44.4) |
Liver US, (median (range) of largest diameter, cm | 23 | 15 (8.4–22) | 81 | 17.6 (8.4–37) | 34 | 15 (9–22) |
Biological parameter, median (range)† | ||||||
Hemoglobin (g/dL) | 140 | 11.5 (5.3–18.9) | 169 | 11.7 (5.4–17) | 188 | 13.2 (8–16.4) |
Leukocyte (×103/mm3) | 126 | 4.9 (0.6–15.4) | 153 | 4.8 (0.5–24) | 102 | 5.7 (2.1–14.1) |
Platelet count (×103/mm3) | 161 | 81 (20–420) | 185 | 80 (18–449) | 187 | 160 (18–553) |
Platelets (×103/mm3) without splenectomy | 127 | 80 (20–246) | 137 | 72 (18–189) | 144 | 139 (18–304) |
Chitotriosidase (nmol/mL/h) | 43 | 8,900 (239–47,500) | 71 | 9,000 (360–85,500) | 106 | 992 (19–53,400) |
TRAP (IU/L) | 5 | 7.1 (1.1–28) | 29 | 10 (4–38) | 24 | 4.5 (1–18.8) |
ACE (IU/L) | 17 | 183 (93–1000) | 51 | 190 (3.4–450) | 48 | 57.5 (12–380) |
Ferritin (ng/L) | 36 | 500 (40–5000) | 74 | 621 (63–3,230) | 72 | 337 (40–2,200) |
Gammaglobulin (g/L) | 14 | 15.8 (9–28.7) | 44 | 15 (6.6–36) | 36 | 12 (5.4–19.9) |
Imaging of bone lesions*, n (%) | ||||||
Erlenmeyer flask | 43 | 9 (20.9) | 61 | 17 (27.9) | 50 | 4 (8) |
Osteopenia | 43 | 6 (14) | 61 | 15 (24.6) | 50 | 4 (8) |
Cortical erosion | 43 | 3 (7) | 61 | 3 (4.9) | 50 | 0 |
Lytic lesion | 43 | 4 (9.3) | 61 | 5 (8.2) | 50 | 5 (10) |
Avascular necrosis sequelae | 43 | 6 (14) | 61 | 11 (18.0) | 50 | 4 (8) |
Infarct sequelae | 43 | 6 (14) | 61 | 8 (13.1) | 50 | 2 (4) |
Fracture sequelae | 43 | 0 | 61 | 2 (3.3) | 50 | 1 (2) |
Infiltration on MRI | 40 | 31 (77.5) | 72 | 53 (73.6) | 80 | 40 (50) |
99mTc-Hyperfixation | 31 | 19 (61.3) | 56 | 42 (75) | 41 | 30 (73.2) |
99mTc-Hypofixation | 31 | 5 (16.1) | 56 | 5 (8.9) | 41 | 0 |
Bone densitometry, median (range) | ||||||
T-score neck | 10 | −0.6 (−2.1 to 1.1) | 27 | −1.4 (−4.2 to 1.4) | 28 | −0.6 (−2.9 to 4.5) |
T-score lumbar | 8 | −1.5 (−2.8 to −0.5) | 22 | −1.8 (−4.2 to 0.8) | 29 | −0.9 (−3.0 to 6.2) |
Z-score neck | 10 | −0.8 (−2.1 to 1) | 20 | −0.8 (−2.1 to 1.9) | 26 | −0.5 (−2.6 to 4.4) |
Z-score lumbar | 7 | −1.9 (−3 to 0.3) | 15 | −1.1 (−3.1 to 0.5) | 24 | −0.1 (−3.0 to 7.1) |