24 Chapter 2 Abstract Objective This study describes the influence of sex and disease phenotype on the occurrence of cardiac events in Fabry disease (FD). Methods Cardiac events from birth to last visit (median age 50) were recorded for 213 FD patients. Patients were categorized as follows: men with classical FD (n=57), men with non-classical FD (n=26), women with classical FD (n=98) and women with non-classical FD (n=32), based on the presence of classical FD symptoms, family history (men and women), biomarkers and residual enzyme activity (men). Event rates per 1000 patient years after the age of 15 years and median event- free survival (EVS) age were presented. Influence of disease phenotype, sex and their interaction was studied using Firth’s penalized Cox regression. Results The event rates of major cardiovascular events (MACE) (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalization, sustained ventricular arrhythmias (SVA) and myocardial infarction) were: 11.0 (95% CI: 6.6-17.3) in men with classical FD (EVS 55 years), 4.4 (2.5-7.1) in women with classical FD (EVS 70 years) and 5.9 (2.6-11.6) in men with non-classical FD (EVS 67 years). None of these events occurred in women with non-classical FD. Sex and phenotype significantly influenced the risk of MACE. CVD was the leading cause of death (75%) to which HF contributed most (42%). The overall rate of SVA was low (14 events in 9 patients (4%)). Conclusions Sex and phenotype greatly influence the risk and age of onset of cardiac events in FD. This indicates the need for patient group-specific follow-up and treatment.
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