Table 1.
Patients characteristics at baseline, overall and for two subgroups
| Total (N = 99)* | Patients who discontinued imiglucerase for at least 3 consecutive months (N = 61) | Patients receiving a reduced 4-week imiglucerase dose for at least 3 consecutive months (N = 32) | ||||
|---|---|---|---|---|---|---|
| n | Median (range) or n (%) patients | n | Median (range) or n (%) patients | n | Median (range) or n (%) patients | |
| Gender | 99 | 61 | 32 | |||
| Male | 52 (52.5%) | 32 (52.5%) | 17 (53.1%) | |||
| Female | 47 (47.5%) | 29 (47.5%) | 15 (46.9%) | |||
| Age (years) | 99 | 61 | 32 | |||
| At inclusion | 47 (7; 84) | 47 (22 ; 84) | 30 (7; 71) | |||
| At GD diagnosis | 20 (1; 64) | 23 (2; 61) | 8.5 (1; 64) | |||
| Weight (kg) | 85 | 66 (29; 105) | 51 | 72 (45; 105) | 28 | 60 (29; 92) |
| Genotyping performed | 99 | 56 (56.6%) | 61 | 35 (57.4%) | 32 | 18 (56.3%) |
| If yes, mutations: | 56 | 35 | 18 | |||
| L444P/Other | 2 (3.6%) | 2 (5.7%) | - | |||
| N370S/L444P | 10 (17.9%) | 10 (28.6%) | - | |||
| N370S/N370S | 8 (14.3%) | 5 (14.3%) | 2 (11.1%) | |||
| N370S/Other | 25 (44.6%) | 10 (28.6%) | 13 (72.2%) | |||
| Other/Other | 11 (19.6%) | 8 (22.9%) | 3 (16.7%) | |||
| Treated with alglucerase before 1996 | 99 | 23 (23.2%) | 61 | 13 (21.3%) | 32 | 8 (25.0%) |
| Hepatomegaly | 98 | 30 (30.6%) | 60 | 18 (30.0%) | 32 | 9 (28.1%) |
| Splenectomy | 99 | 30 (30.3%) | 61 | 21 (34.4%) | 32 | 7 (21.9%) |
| Splenomegaly in non-splenectomized patients | 69 | 25 (36.2%) | 40 | 13 (32.5%) | 25 | 10 (40.0%) |
| Asthenia | 99 | 30 (30.3%) | 61 | 20 (32.8%) | 32 | 7 (21.9%) |
| Other clinical manifestation(s) | 99 | 15 (15.2%) | 61 | 7 (11.5%) | 32 | 6 (18.8%) |
| Concomitant disease | 99 | 38 (38.4%) | 61 | 25 (41.0%) | 32 | 11 (34.4%) |
| Bone impairment | 99 | 33 (33.3%) | 61 | 22 (36.1%) | 32 | 8 (25.0%) |
| Hemoglobin (g/L) | 85 | 140 (104; 163) | 52 | 143 (106; 163) | 27 | 134 (104; 154) |
| Platelets (103/mm3) | 86 | 182.5 (48; 478) | 52 | 179.5 (48; 478) | 28 | 185 (59; 415) |
| Ferritin (μg/L) | 50 | 221 (16; 2310) | 33 | 216 (16; 1150) | 13 | 275 (29; 2310) |
| Chitotriosidase (nmol/mL/h) | 64 | 730 (3; 16300) | 38 | 234 (14; 16300) | 20 | 1251 (3; 10170) |
| ACE (IU/L) | 42 | 51.5 (10; 252) | 26 | 42.5 (10; 252) | 13 | 70 (19; 171) |
*6 patients are not reported in the subgroups: 2 patients could not be classified (no stable modification for at least 3 consecutive months) and 4 patients took only miglustat for at least 3 consecutive months.
n: number of patients with available data.