Background: Fabry disease (FD) is a multi-organ disorder associated with severe physiological and psychological impairments, particularly in adulthood. To date, comprehensive data on the psychological burden of FD are lacking. The present study investigated quality of life (QOL) in a representative cohort of adults with FD.

Methods: Patient-reported outcome measures were retrospectively analyzed in a representative sample of 84 adults with FD (48.4 ± 16.1 years of age; 64.3% female) and compared to adults with congenital heart defects (ACHD) which is another lifelong disease and affliction. QOL was assessed using the EQ-5D-5L.

Results: Subjects affected by FD reported an overall reduced QOL (EQ-VAS: 71.8 ± 20.0). Most frequently reported complaints occurred within the dimensions pain/discomfort (67.8%), usual activities (46.4%) and anxiety/depression (44.0%). Differences between both populations were analyzed subsequently. Compared to ACHD, individuals with FD scored significantly lower in the areas of pain/discomfort (p<.001), usual activities (p<.001) and mobility (p=.01).

Conclusion: Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective wellbeing to potentially increase their QOL and long-term health outcomes.

Keywords: Fabry disease; FD; psychological situation; quality of life; prevention; EQ5D