First clinical experience with the Transthyretin Amyloidosis-Quality of Life questionnaire (ATTR-QoL): associations...

Transthyretin amyloidosis (ATTR) is a multisystemic disease impacting quality of life (QOL) through various symptoms. The Transthyretin Amyloidosis-Quality of Life Questionnaire (ATTR-QOL) was developed to assess disease-specific effects on QOL, but its associations with established patient-reported outcomes measures (PROs), clinical markers, and functional tests remain unexplored.

This cross-sectional study included consecutive ATTR patients at Columbia University between 3/2024 and 1/2025 who completed the ATTR-QOL. The questionnaire includes 5 symptom and 4 impact scores (range: 0-100, higher scores indicate worse status). Clinical parameters, PROs, and functionality were recorded at the same visit. PROs of interest included the Kansas City Cardiomyopathy Questionnaire (KCCQ), SF36v2 and Composite Autonomic Symptom Score-31 (COMPASS-31), while 6-minute walk test and Short Physical Performance Battery Test were recorded as functionality measures. 194 patients (137 cardiomyopathy, 48 mixed, 9 neuropathy) were included. Most had early-stage disease [National Amyloidosis Centre (NAC) Stage 1: 70%, Stage 2: 22%, Stage 3: 8%], and all were on disease-modifying treatment. ATTR-QOL exhibited good convergent validity with clinical parameters, functionality testing, and established QOL tools. Additionally, ATTR-QOL demonstrated strong known-groups discriminant validity, as evidenced by its ability to differentiate between various clinical and functional groups, as well as established patient-reported outcome (PRO) categories.

ATTR-QOL, as a disease-specific PRO, effectively captures the multidimensional impact of ATTR and is associated with clinical parameters and functionality in patients with ATTR.