Table 2.
Baseline characteristics of the 237 included patients with Fabry disease
| Male (N=89) | Female (N=148) | |
|---|---|---|
| Disease classification, n (%) | ||
| Classical | 54 (61) | 108 (73) |
| Nonclassical | 35 (39) | 40 (27) |
| Mutatation type, n (%) | ||
| Nonsense/frameshift | 24 (27) | 44 (30) |
| Missense | 60 (67) | 98 (66) |
| Others | 4 (5) | 6 (4) |
| Plasma lysoGb3, nmol/L | 82 (14–111) | 5 (2.4–8.6) |
| Log10(1+lysoGb3)a | 1.9 (1.2–2.1) | 0.8 (0.5–1.0) |
| Age of last untreated lysoGb3 | 40 (22–58) | 44 (31–54) |
| Plasma lysoGb3 categories, n (%)b | ||
| <2.3 nmol/L (n=42) | 7 (8) | 35 (24) |
| 2.3–7.3 nmol/L (n=71) | 5 (5) | 66 (44) |
| 7.3–40 nmol/L (n=70) | 24 (27) | 46 (31) |
| >40 nmol/L (n=54) | 53 (60) | 1 (1) |
| Cardiovascular risk factors, n (%) | ||
| Smoker (former or current) | 38 (43) | 57 (39) |
| Hypertension | 22 (25) | 32 (22) |
| Body mass index >30 kg/m2 | 7 (8) | 30 (20) |
| Any of the above present | 50 (56) | 82 (55) |
Data are presented as number (percentage) or median and interquartile range, as appropriate.
Missing data: mutation type (n=1), male patient with clear clinical and biochemical Fabry disease characteristics but no mutation found in the coding α-galactosidase A gene sequence; smoking (n=26); hypertension (n=6).
a
Transformed lysoGb3 values as they are used in the statistical models.
b
Patients were divided into groups for visualization purposes only. Groups are not included in any of the statistical models.