Table 1 Demographic data
Variable | Males (n = 16) | Females (n = 14) | Total (n = 30) |
|---|---|---|---|
Median age years (Q1–Q3) | 42.5 (28.25–58.00) | 41.5 (31.00–53.50) | 41.5 (30.50–55.00) |
GBA1 genotype (NM_000157) | |||
c.1226A > G + c.1226A > G (%) | 3 | 1 | 4 (13%) |
c.1226A > G + c.1448T > C (%) | 5 | 7 | 12 (40%) |
c.1226A > G + other (%) | 6 | 5 | 11 (37%) |
Other + Other (%) | 2 | 1 | 3 (10%) |
Previous spleen removal (%) | 1 | 3 | 4 (13%) |
Median years on previous therapy (Q1–Q3) | 17.0 (7.00–22.00) | 16.0 (12.75–21.00) | 17.0 (8.00–20.75) |
Previous treatment* | |||
Imiglucerase (%) | 6 | 7 | 13 (43%) |
Velaglucerase alfa (%) | 8 | 4 | 12 (40%) |
Miglustat (%) | 3 | 3 | 6 (20%) |
Comorbidities: | |||
Arterial hypertension (%) | 3 | 1 | 4 (13%) |
Diabetes (%) | 2 | 0 | 2 (6%) |
Previous neoplasias (%) | 0 | 3 | 3 (9%) |
CYP2D6 Activity Score (AS) | |||
AS = 0 (poor metabolizer) | 1 (3%) | ||
AS = 0.5 (intermediate metabolizer) | 4 (13%) | ||
AS = 1 (extensive metabolizer) | 6 (20%) | ||
AS = 1.5 (extensive metabolizer) | 6 (20%) | ||
AS = 2 (extensive metabolizer) | 13 (44%) |