OBJECTIVES: Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) is a rare and multisystemic disease. Scarce evidence about its economic burden has been published, especially regarding carriers and early stage patients. To characterize these populations, a descriptive study was developed in Spain. Secondary endpoints were estimation of the use and costs of healthcare resource utilization (HRU) and estimation of indirect costs from a societal perspective.

METHODS: An observational, multicentric, descriptive and cross-sectional study was carried out during 2017-2020, to characterize healthy carriers of the pathogenic mutation in the TTR gen (HC) and stage I ATTR-PN patients (PA). HRU such as medical visits, diagnostic tests, and its associated costs were assessed. Unitary costs were obtained from official sources (€, 2021). Results are expressed as cost/resource utilization per individual per year.

RESULTS: The study included 105 participants: 86 HC and 19 PA. Direct costs were significantly higher in PA versus HC, being 2,293.67€ and 945.05€ respectively (p<0.001). Main expenses in both groups were due to internal medicine and neurology visits. Among diagnostic tests, electromyogram was the resource generating higher costs in both populations.

Among indirect costs, no statistically significant differences were found, being 380.11€ for HC and 781.32€ for PA. Interestingly, while PA presented a higher number of sick day-leaves, HC showed higher number of lost workhours. Besides, the number of days worked with fatigue/pain were significantly different between both groups (5.47 and 53.95 for HC and PA; p=0.034).

Finally, total costs (direct and indirect) of PA population were significantly higher than those of HC (3,074.99 vs 1,325.16€ respectively; p<0.001). Thus, PA generate an incremental burden of 1,749.83€ per patient per year when compared HC.

CONCLUSIONS: In conclusion, both groups are generating a relevant burden in direct costs to the Spanish healthcare system, and in indirect societal costs.