Quality of life and disability in pure autonomic failure: More than a prodromal synucleinopathy

Pure autonomic failure (PAF) is a neurodegenerative disease that leads to widespread autonomic dysfunction. To date, no studies have specifically assessed health-related quality of life (HRQoL) and disability in PAF patients.

We performed a cross-sectional study involving 30 PAF patients from the "IAF-BO cohort". HRQoL was measured using 36-item Short-form Health Survey (SF-36) and disability using activities of daily living (ADL), instrumental ADL (IADL), and modified Barthel Index (mBI). Associations were evaluated between clinical features, autonomic symptoms, HRQoL and disability.

HRQoL in PAF patients was significantly lower than in general population, particularly in physical health domains of SF-36. Half of the participants showed mild dependence in ADL, IADL and mBI, with urinary control being the most affected function. Strong associations were identified between the SF-36 physical component score and autonomic symptoms, while no associations were observed with disease duration or depression. Significant associations also emerged between disability measures and autonomic symptoms. Additionally, resilience showed a significant interaction effect with autonomic symptoms in the regression model, where lower resilience was associated with higher disability.

This is the first study to evaluate HRQoL, disability and their relations with autonomic dysfunctions in PAF. While PAF is typically considered a prodromal α-synucleinopathy, our findings demonstrated that it is indeed a disabling disease that significantly impacts both quality of life and functional independence. These results underscore the need for targeted pharmacological interventions to improve the lives of individuals affected by PAF.