OBJECTIVES: Transthyretin amyloidosis (ATTR) is a heterogenous and fatal disease with broad manifestations which include polyneuropathy (ATTR-PN) and cardiomyopathy (ATTR-CM), which significantly impact health-related quality of life (HRQoL). The aim of this systematic literature review (SLR) was to identify instruments used to measure HRQoL among ATTR patients.

METHODS: Systematic literature searches were conducted in Medline and Embase databases for studies published between 01/2018 and 04/2023. Two reviewers screened and selected articles based on titles/abstracts before independent full text screening, final selection, and data extraction.

RESULTS: Overall, 9 full text studies were included. The Norfolk QoL-DN questionnaire (range -4 to 136, with higher scores indicating worse QoL) was the most used instrument (n=4) specifically for patients with ATTR-PN. Mean total score ranged from 23.4 to 74.1. The KCCQ (range 0 to 100, with higher scores indicating better health) was the most widely used in 3 studies specifically investigating patients with ATTR-CM. The overall summary score ranged between 43 and 78. In total, four studies evaluated general HRQoL using the EuroQol-5D-3L questionnaire (n=3) and the SF-12v2 questionnaire (n=1) among ATTR patients. The latter study reported a physical health summary score (range 0 to 100, with higher scores indicating better health) of 33.6 for all patients with ATTR which is lower than the general US population norm of 50. HRQoL, as assessed by the EQ-5D-3L index score (range 0 to 1) derived from the five items of the EQ-5D-3L questionnaire ranged from 0.6 to 0.7, with one representing a state of perfect health.

CONCLUSIONS: Presently, the usage of currently available instruments to assess HRQoL in patients with ATTR is limited and often restricted to specific subgroups (ATTR-PN, ATTR-CM). An opportunity exists to better understand the ability of such instruments to capture the impact of ATTR on HRQoL, particularly in patients with mixed phenotype.