Abstract / Summary
Fabry disease is a rare X-linked genetic disorder that frequently involves multiple organ systems, with cardiac complications being the leading cause of death. Although enzyme replacement therapy can slow disease progression, patients continue to face significant physical and emotional challenges. Most research has focused on pathophysiology, leaving a gap in patient-centered care models that capture the full illness experience from early symptoms to long-term management. Understanding the disease from the patient perspective may provide insights that can help identify areas for improving care. This study aimed to explore how patients with cardiac-involved Fabry disease manage their health over time, including their actions, challenges, and needs at different stages. We also sought to identify critical points for care improvement and unmet needs, with the aim of identifying potential targets for patient-centered nursing care. A descriptive qualitative design was employed. We purposively sampled 15 patients receiving treatment for cardiac-involved Fabry disease at a cardiac center in a major hospital in Hefei, Anhui. Semi-structured in-depth interviews were conducted from August 2023 to October 2024. Data were analyzed using Colaizzi’s seven-step phenomenological method. A patient journey map was then developed using WPS software as a visual framework to organize and present the key findings; it was not used as a standalone analytical method. Three major stages emerged: initial onset of symptoms, screening and diagnosis, and long-term treatment and management. Within each stage, we examined patient actions, problems encountered, and needs, identifying 23 subthemes. Key findings included extensive diagnostic procedures, fluctuating emotional responses, and evolving support requirements throughout the illness trajectory. These insights informed the development of a comprehensive patient journey map. Patients with cardiac-involved Fabry disease experience a prolonged and dynamic illness, facing diverse challenges in self-management. Our findings may help inform the design of stage-specific, patient-centered nursing care that reflects real-world patient experiences and evolving needs. A phased approach tailored to individual journeys may represent one potential strategy for supporting patients over the long term. Not applicable.