Health-related quality of life in hereditary transthyretin amyloidosis, a cross-sectional study

CARRETERO, MARCELINA; DELFINA CIRELLI; ELSA M NUCIFORA; MARIA LOURDES POSADAS MARTINEZ

Simposio; International Symposium on Amyloidosis 2024; 2024

id 106 Marcelina Carretero, Delfina Cirelli, Paula Schwartz, Franco Faelo, Gisela Bendelman, María Agustina Marco, Elsa Nucifora, María Adela Aguirre, María Lourdes Posadas Martínez.Submitting Author: Delfina Cirelli. Hospital Italiano de Buenos Aires. Ciudad Autónoma de Buenos Aires. Argentina.Main Body of the AbstractBackground: Health-related quality of life (HRQoL) is a metric that reflects the patient's perception of their physical, mental and social well-being. It is a crucial factor to consider when assessing the impact of systemic amyloidosis on patient's lives.Objective: To describe HRQoL in patients with systemic transthyretin amyloidosis variant type (ATTRv) within a registry of individuals with amyloidosis.Materials & methods: Cross-sectional study (2021-2023) of ATTRv amyloidosis patients from an Amyloidosis Registry. HRQoL, assessed through the EuroQoL 5D-3L (EQ-5D-3L), was described by the proportion of patients without problems, with moderate or severe problems in each domain. Visual analog scale was presented with mean and standard deviation or median and interquartile range, depending on the distribution. Finally, the HRQoL was compared with that of the general population.Results: Twenty-four patients were included, with a median age of 51 years, predominantly women. Paresthesias (88%), weakness, and fatigue (79%) were prevalent symptoms. Nearly all patients experienced impairment in at least one EQ-5D-3L domain. Regarding specific domains, pain or discomfort was the most common complaint. The visual analog scale revealed a median of 52. Compared to the general population, individuals with ATTRv amyloidosis demonstrated a greater compromise in HRQoL across all EQ-5D-3L domains.Summary & Conclusion: The study reveals substantial impairment in HRQoL for ATTRv amyloidosis patients, emphasizing the need for targeted interventions. These results lay the groundwork for future research and guide clinical approaches to improve the well-being of this affected population.