Table 1.
Clinical characteristics of the GAUCHERITE cohort and subgroups at recruitment
| Variables | Categories* | Entire cohort (N = 250) [%] | Children (N = 26) [%] |
Adults (N = 224) [%] |
Gaucher Type 1 (N = 223) [%] | Gaucher Type 3 (N = 27) [%] |
|---|---|---|---|---|---|---|
| Gender | Male | 128 [51] | 13 [50] | 115 [51] | 120 [54] | 8 [30] |
| Female | 122 [49] | 13 [50] | 109 [49] | 103 [46] | 19 [70] | |
| Recruitment age (y) | Mean age ± SD | 44 ± 19 | 11 ± 4 | 48 ± 16 | 46 ± 18 | 26 ± 16 |
| Median (range) | 46 (5–87) | 11 (5–17.8) | 49 (18.7–87) | 48 (5–87) | 23 (5–60) | |
| Jewish descent | Yes | 43 [17] | 1 [4] | 42 [19] | 43 [19] | – |
| No | 207 [83] | 25 [96] | 182 [81] | 180 [81] | 27 [100] | |
| Consanguinity | Yes | 18 [7] | 2 [8] | 16 [7] | 9 [4] | 9 [33] |
| No | 232 [93] | 24 [92] | 208 [93] | 214 [96] | 18 [67] | |
| Age at symptom onset (y) | Mean age ± SD | 16 ± 15 | 3 ± 2 | 18 ± 15 | 18 ± 15 | 3 ± 4 |
| Median (range) | 11 (0–72) | 2 (0–8) | 13 (0–72) | 13 (0–72) | 1 (0–16) | |
| No symptoms | 13 | – | 13 | 12 | 1 | |
| Unknown | 5 | – | 5 | 4 | 1 | |
| First symptoms | Enlarged abdomen | 37 [15] | 6 [23] | 31 [14] | 28 [12.5] | 9 [33] |
| Enlarged abdomen plus other symptoms | 67 [27] | 8 [31] | 59 [26] | 56 [25] | 11 [40] | |
| Easy bleeding/bruising | 34 [14] | 1[4] | 33 [15] | 34 [15] | – | |
| Easy bleeding/bruising plus other symptoms | 36 [14] | 4 [15] | 32 [14] | 35 [16] | 1 [4] | |
| Fatigue | 9 [4] | – | 9 [4] | 9 [4] | – | |
| Fatigue plus other symptoms | 6 [2] | – | 6 [3] | 6 [3] | – | |
| Bone disease | 15 [6] | – | 15 [7] | 15 [7] | – | |
| Other non-classical GD symptoms | 32 [13] | 7 [27] | 25 [11] | 28 [12.5] | 4 [15] | |
| No symptoms | 13 [5] | – | 13 [6] | 12 [5] | 1 [4] | |
| Unknown | 1 [< 1] | – | 1 [< 1] | – | 1 [4] | |
| Presentation age (y) | Mean age ± SD | 18 ± 16 | 3 ± 2 | 20 ± 16 | 20 ± 16 | 3 ± 4 |
| Median (range) | 13 (0–72) | 2 (0–8) | 16 (0–72) | 16 (0–72) | 2 (0–16) | |
| Missing age | 2 | – | 2 | 1 | 1 | |
| Age at diagnosis (y) | Mean age ± SD | 21 ± 17 | 4 ± 3 | 23 ± 17 | 23 ± 17 | 3 ± 4 |
| Median (range) | 16 (0–73) | 3 (1–10) | 20 (0–73) | 20 (0–73) | 2 (0–16) | |
| Diagnostic pathway | Enzyme assay | 21 [8] | 7 [27] | 14 [6] | 17 [8] | 4 [15] |
| GBA-gene sequencing | 23 [9] | 1 [4] | 22 [10] | 23 [10] | – | |
| Bone marrow histology | 71 [29] | 3 [11] | 68 [30] | 68 [30] | 3 [11] | |
| Liver histology | 12 [5] | 2 [8] | 10 [5] | 11 [5] | 1 [4] | |
| Spleen histology | 11 [4] | – | 11 [5] | 9 [4] | 2 [7] | |
| Other histology | 1 [< 1] | – | 1 [< 1] | 1 [< 1] | – | |
| Combination of these methods | 105 [42] | 13 [50] | 92 [41] | 89 [40] | 16 [59] | |
| Clinical history | 5 [2] | – | 5 [2] | 5 [2] | – | |
| Unknown | 1 [< 1] | – | 1 [< 1] | – | 1 [4] | |
| Parkinson disease | Yes | 7 [3] | – | 7 [3] | 7 [3] | – |
| Age at diagnosis, years, mean ± SD | 54 ± 12 | – | 54 ± 12 | 54 ± 12 | – | |
| Median (range) | 52 (35–70) | – | 52 (35–70) | 52 (35–70) | – | |
| No | 243 [97] | 26 [100] | 217 [97] | 216 [97] | 27 [100] | |
| Family history of Parkinson/dementia | Yes | 85 [34] | 4 [15] | 81 [36] | 76 [34] | 9 [33] |
| No | 165 [66] | 22 [85] | 143 [64] | 147 [66] | 18 [67] | |
| GBA1 Genotypes | N370S/N370S | 33 | – | 33 | 33 | – |
| L444P/L444P | 20 | 6 | 14 | – | 20 | |
| R463C/R463C | 2 | – | 2 | 2 | – | |
| W184R/W184R | 1 | – | 1 | 1 | – | |
| N370S/L444P | 38 | – | 38 | 38 | – | |
| N370S/other | 106 | 11 | 95 | 106 | – | |
| L444P/R463C | 12 | 2 | 10 | 11 | 1 | |
| L444P/other | 7 | 2 | 5 | 4 | 3 | |
| R463C/other | 15 | 2 | 13 | 13 | 2 | |
| Other /other | 14 | 2 | 12 | 13 | 1 | |
|
Unknown/NA* * heterozygous PSAP mutations |
2 | 1 | 1 | 2 | – | |
| Failure to thrive in childhood | Yes | 65 [26] | – | 65 [29] | 56 [25] | 9 [33] |
| No | 141 [56] | – | 141 [63] | 134 [60] | 7 [26] | |
| Unknown/NA | 44 [18] | 26 [100] | 18 [8] | 33 [15] | 11 [41] | |
| Considered shorter than school peers | Yes | 86 [35] | – | 86 [38] | 77 [34.5] | 9 [33] |
| No | 123 [49] | – | 123 [55] | 116 [52] | 7 [26] | |
| Unknown/NA | 41 [16] | 26 [100] | 15 [7] | 30 [13.5] | 11 [41] | |
| Considered themselves underweight | Yes | 71 [29] | – | 71 [32] | 64 [29] | 7 [26] |
| No | 138 [55] | – | 138 [61] | 129 [58] | 9 [33] | |
| Unknown/NA | 41 [16] | 26 [100] | 15 [7] | 30 [13] | 11 [41] | |
| Delayed puberty | Yes | 54 [22] | – | 54 [24] | 49 [22] | 5 [18] |
| No | 148 [59] | – | 148 [66] | 137 [61] | 11 [41] | |
| Unknown/NA | 48 19] | 26 [100] | 22 10] | 37 [17] | 11 [41] | |
| Onset of regular shaving/menses, N | Male | 101 [79] | – | 101 [88] | 96 [80] | 5 [63] |
| Years, mean age ± SD | 17 ± 2 | – | 17 ± 2 | 17 ± 2 | 20 ± 4 | |
| Median (range) | 16 (9–26) | – | 16 (9–26) | 16 (9–23) | 18 (16–26) | |
| Missing/NA | 27 | 13 | 14 | 24 | 3 | |
| Female | 100 [82] | – | 100 [92] | 89 [86] | 11 [58] | |
| Years, mean age ± SD | 14 ± 2 | – | 14 ± 2 | 14 ± 2 | 13 ± 2 | |
| Median (range) | 14 (6–19) | – | 14 (6–19) | 14 (6–19) | 13 (11–16) | |
| Missing/NA | 22 | 13 | 9 | 14 | 8 | |
| Menopause, N | Yes | 51 [42] | – | 51 [47] | 48 [47] | 3 [16] |
| Age occurred years mean ± SD | 46 ± 7 | – | 46 ± 7 | 46 ± 7 | 39 ± 10 | |
| Median age (range) | 47 (26–58) | – | 47 (26–58) | 47 (26–58) | 36 (31–51) | |
| HRT status | Yes | 20 [39] | – | 20 [39] | 18 [38] | 2 [67] |
| No | 29 57] | – | 29 [57] | 28 [58] | 1 [33] | |
| Missing | 2 | – | 2 | 2 | – |
HRT hormone replacement therapy, NA not applicable, SD standard deviation
*Categorical variables are expressed as frequency [percent]. Continuous variables are expressed as mean ± SD and median (range)