156 Chapter 5 Significance statement The phenotypical spectrum of Fabry disease ranges from patients with minimal complications and a normal life expectancy to patients with severe morbidity leading to premature death. Increased genetic screening in milder and asymptomatic individuals vastly increased the number of patients with milder forms of FD and an uncertain disease course. As disease manifestations may take decades to develop and the window of opportunity to start targeted treatment is limited, all diagnosed FD patients are currently under life-long follow up. We found that the biomarker lysoGb3 is stable over time in the plasma of untreated Fabry patients and is significantly associated with disease progression. This enables early risk stratification of patients and could reduce over-medicalization and improve efficiency of clinical care.
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