Disease burden of ATTR amyloidosis based on the SF-36® health survey.

Abstract

Transthyretin (ATTR) amyloidosis is a progressive systemic disease associated with substantial morbidity and mortality. Although health-related quality of life (HRQoL) assessments are increasingly incorporated into clinical trials, data in ATTR amyloidosis remain limited. We conducted a retrospective observational study of patients with confirmed ATTR amyloidosis evaluated at the Boston University Amyloidosis Center between 1992 and 2022. Patients who completed the 36-Item Short Form Health Survey (SF-36®) at baseline were included. Participants were categorized as wild-type ATTR (ATTRwt), V122I-variant ATTR (V122I-ATTRv), or non-V122I-ATTRv. SF-36® domain scores were summarized into norm-based Physical Component Summary (PCS) and Mental Component Summary (MCS) scores (U.S. population mean 50, SD 10).Among 997 patients evaluated, 836 (83.9%) completed the SF-36®. Of these, 407 (48.7%) had ATTRwt, 336 (40.2%) non-V122I-ATTRv, and 93 (11.1%) V122I-ATTRv. Mean age was 66.9 years, ranging from 55.8 years in non-V122I-ATTRv to 75.3 years in ATTRwt. The V122I-ATTRv cohort was predominantly Black (91.4%). PCS scores were markedly reduced across all groups compared with population norms, with the greatest impairment in V122I-ATTRv (33 ± 11), followed by ATTRwt (36 ± 11) and non-V122I-ATTRv (37 ± 13). The most affected domains were role limitations due to physical health and vitality. In contrast, MCS scores were near population averages across all groups (49–51), suggesting preserved mental and social well-being.ATTR amyloidosis is associated with substantial physical HRQoL impairment, particularly in patients with the V122I variant, comparable to chronic heart failure. These findings suggest the importance of routine HRQoL assessment and support the development of amyloidosis-specific patient-reported outcome measures.