162 Chapter 5 Results Patient characteristics Patient characteristics of the 237 included FD patients are outlined in table 1. Table 1:. Baseline patient characteristics of the 237 included untreated FD patients Male FD (N=89) Female FD (N=148) Disease classification classical 54 (61%) 108 (73%) non-classical 35 (39%) 40 (27%) Mutatation type Nonsense/frameshift 24 (27%) 44 (30%) missense 60 (67%) 98 (66%) others 4 (5%) 6 (4%) Plasma lysoGb3 (nmol/L) 82 (1 - 178) 5 (0.4 - 41) Log10(1+lysoGb3)* 1.9 (0.3-2.3) 0.8 (0.1-1.6) Age of last untreated lysoGb3 40 (3 - 71) 44 (13 - 76) Plasma lysoGb3 categories** < 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 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 range, as appropriate. Missing data: mutation type (n=1), male patient with clear clinical and biochemical FD characteristics but no mutation found in the coding GLA sequence; smoking (n=26); hypertension (n=6). * Transformed lysoGb3 values as they are used in the statistical models. ** Patients were divided into groups for visualization purposes only. Groups are not included in any of the statistical models. Stability of plasma lysoGb3 over time in individual untreated patients In individual FD patients not treated with FD specific therapy, plasma lysoGb3 levels remain stable over time throughout life (p=0.6 for change over time, fig.1). Median follow up time is 3.7 years (range 0.1-16 years). The exact age at which lysoGb3 stabilizes could not be determined because of the low number of measurements in very young patients.
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