Economic and healthcare resource utilization for hereditary transthyretin amyloidosis with polyneuropathy in Spain: real-world insights from early-stage patients and mutation carriers.

Objective: Variant transthyretin (ATTRv) amyloidosis is a rare genetic multisystem disease inducing progressive morbidity. Evidence about its economic burden is scarce. This study estimated annual use and costs of healthcare-resource-utilization (HRU) and indirect costs for ATTRv mutation carriers and patients with polyneuropathy from a societal perspective in Spain.

Methods: A cross-sectional, retrospective non-interventional multicenter study was conducted in 2018-2020 to characterize asymptomatic carriers of mutations in the TTR gen (AC) and Coutinho stage 1 transthyretin amyloidosis polyneuropathy patients (PA). HRU, associated costs, and indirect wages were assessed during 12 months prior to enrollment.

Results: One-hundred-five participants were analyzed: 86 AC and 19 PA. Average healthcare cost-per-person-per-year was significantly higher in PA: €2,323.6 vs. €953.3 ( < 0.001), due to higher utilization of medical specialty visits, hospitalizations, and nerve conduction studies. Indirect costs were statistically not different (€380.1 for AC and €781.3 for PA,  = 0.581). Days worked with fatigue/pain were significantly higher in PA: 53.9 vs 5.5 ( = 0.034). Total cost was significantly higher in PA than AC (€3,105.0 vs €1,333.4;  < 0.001).

Conclusions: Both AC and early-stage ATTRv-PN patients showed a meaningful economic burden to the National Health System and society. We observed an annual incremental economic burden of €1,771.5 in PA versus AC.