Baseline characteristic | Entire cohort | Followed patients | Recently seen patients | Recently treated patients | ||||
---|---|---|---|---|---|---|---|---|
(n=562) | (n=378) | (n=283) | (n=247) | |||||
No.* | Value | No.* | Value | No.* | Value | No. | Value | |
Sex, n (%) | 562 | 378 | 283 | 247 | ||||
Female | 265 (49.6) | 182 (48.1) | 144 (50.9) | 121 (49) | ||||
Male | 269 (50.4) | 196 (51.9) | 139 (49.1) | 126 (51) | ||||
Fetuses | 28 | |||||||
Age, years, median (range) [IQR] | ||||||||
First symptom(s) | 238 | 15 (0–77) [5;30] | 227 | 15 (0–77) [5;30] | 182 | 15 (0–62) [5;30] | 162 | 15 (0–62) [5;29] |
Diagnosis (without fetuses) | 534 | 22 (0–83.8) [5.8;38.9] | 378 | 21.9 (0–80.5) [6.8;36.2] | 283 | 22.6 (0.2–67.5) [8.4;35.1] | 247 | 22.1 (0.5–67.5) [8.7;37.7] |
Patients diagnosed before 1991, n (%) | 562 | 261 (46.4) | 378 | 181 (47.9) | 283 | 131 (46.3) | 247 | 122 (49.4) |
Patients ≤15 years old at diagnosis, n (%) | 562 | 245 (43.6) | 378 | 147 (38.9) | 283 | 102 (36.0) | 247 | 125 (50.6) |
1st symptom-to-diagnosis interval, years, median (range) | 238 | 1 (0–56) | 227 | 1 (0–56) | 182 | 1 (0–56) | 162 | 1 (0–56) |
First symptoms, n (%)† | 232 | 216 | 169 | 143 | ||||
Splenomegaly | 163 (70.3) | 155 (71.8) | 120 (71) | 109 (38.9) | ||||
Hepatomegaly | 51 (22) | 46 (21.3) | 35 (20.7) | 33 (11.8) | ||||
Thrombocytopenia | 114 (49.1) | 107 (49.5) | 88 (52.1) | 76 (27.1) | ||||
Bone crisis | 8 (3.4) | 8 (3.7) | 6 (3.6) | 6 (2.1) | ||||
Chronic bone pain | 16 (6.9) | 15 (6.9) | 13 (7.7) | 13 (4.6) | ||||
Other | 82 (35.3) | 73 (33.8) | 53 (31.4) | 43 (15.5) | ||||
Test diagnosing GD, n (%)‡ | 245 | 233 | 189 | 162 | ||||
Enzyme assay | 61 (24.9) | 53 (22.7) | 48 (25.4) | 36 (22.2) | ||||
GBA-gene sequencing | 1 (0.4) | 1 (0.4) | 1 (0.5) | 1 (0.6) | ||||
Bone-marrow aspiration | 118 (48.2) | 115 (49.4) | 93 (49.2) | 83 (51.3) | ||||
Bone-marrow biopsy | 16 (6.5) | 16 (6.9) | 13 (6.9) | 13 (8) | ||||
Bone biopsy | 5 (2.0) | 5 (2.1) | 5 (2.6) | 5 (3.1) | ||||
Hepatic biopsy | 9 (3.7) | 8 (3.4) | 6 (3.2) | 4 (2.5) | ||||
Spleen histology | 33 (13.5) | 33 (14.2) | 21 (11.1) | 18 (11.1) | ||||
Other | 2 (0.8) | 2 (0.9) | 2 (1.1) | 2 (1.2) | ||||
Type, n (%) | 536 | 378 | 283 | 247 | ||||
1 | 454 (84.7) | 348 (92.0) | 274 (96.8) | 239 (96.8) | ||||
2 | 61 (11.4) | 15 (4) | 1 (0.4) | |||||
3 | 21 (3.9) | 15 (4) | 8 (2.8) | 8 (3.2) | ||||
Genotype, n (%) | 261 | 229 | 172 | 155 | ||||
p.N370S/p.N370S | 39 (15.0) | 34 (14.8) | 28 (16.3) | 24 (15.5) | ||||
p.N370S/p.L444P | 41 (15.7) | 37 (16.2) | 31 (18.0) | 27 (17.4) | ||||
p.L444P/p.L444P | 17 (6.5) | 11 (4.8) | 4 (2.3) | 4 (2.6) | ||||
p.N370S/other | 123 (47.1) | 114 (49.8) | 86 (50) | 77 (49.7) | ||||
p.L444P/other | 24 (9.2) | 17 (7.4) | 9 (5.2 ) | 9 (5.8) | ||||
Other/other | 17 (6.5) | 16 (7) | 14 (8.2) | 14 (9) | ||||
Affected family, n | 562 | 161 | 378 | 130 | 283 | 108 | 247 | 94 |