Mohamed El Sayed

34 Chapter 2 Figure 2: The occurrence of cardiac events for all 213 FD patients, stratified by sex (♂=men, ♀=women) and phenotype. Included events are: death, cardiovascular death (CVD), heart failure (HF) hospitalization (first event), sustained ventricular arrhythmias (SVA) (first event), myocardial infarction (MI) (first event), conduction abnormalities (CA) (first recorded), and atrial fibrillation (AF) (first recorded). No event was scored if none of the predefined events was recorded at the time of the last outpatient visit. Enzyme replacement therapy Sixty percent (128/213) of the included patients were treated with enzyme replacement therapy (ERT). Decisions to initiate treatment were based on the presence of symptoms as described earlier [25] or based upon the recommendations of the European Fabry Working Group once they became available [26]. The majority of the untreated patients were either diagnosed through family screening, without signs of organ involvement at last follow-up (48% of untreated patients) or diagnosed at an advanced disease stage, at which point no benefit of ERT was to be expected (21%) (table 1). Major adverse cardiovascular events The event rate (after age 15 years) for MACE was 11.0 per 1000 patient-years (95% CI: 6.6-17.3) for men with classical FD, versus 4.4 (2.5-7.1) in women with classical FD, and 5.9 (2.6-11.6) in men with non-classical FD. None of the women with non-classical FD developed MACE. KM analysis showed a significant difference between the four subgroups (figure 3, see supplemental figure 2

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