Patient experience in a rare disease: application of the IEXPAC questionnaire in hereditary transthyretin-mediated amyloidosis

Abstract

ABSTRACT Background: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a rare, disabling and potentially fatal disease. The purpose of this investigation was to analyze the experience reported by hATTR amyloidosis population and develop a strategy to improve results for patients searching Internet for knowledge about their disease. Methods: A cross-sectional study, including adult hATTR amyloidosis patients with active treatment managed at a secondary hospital, was conducted during 2020. The study was carried out in two phases: first, the patient’s experience was analyzed through the IEXPAC questionnaire; second, an intervention was carried out to improve the worst-valued indicators. Results: The survey was conducted on 15 patients. The mean ± SD IEXPAC score was 3.8 ± 0.9. The best scores were those directed to the care offered by healthcare professionals. The worst scores were for obtaining information on Internet and use of the mobile phone to consult medical records. The application of the IEXPAC questionnaire resulted in the production of informative material. Conclusion: This is the first investigation that applies the IEXPAC questionnaire to patients with hATTR amyloidosis. This study supplies useful finding that may be used in future investigations to address hATTR amyloidosis patients’ needs and challenges on the way to patient-centered care.