OBJECTIVES: This research sets out to estimate the annual healthcare resource use and costs associated with the management of transthyretin familial amyloid polyneuropathy (TTR-FAP) per disease clinical stage. Rare disease costs may be difficult to assess and are often disregarded in decision making but are warranted.

METHODS: Healthcare resource use associated with the management of transthyretin familial amyloid polyneuropathy was elicited through a panel of Portuguese experts with extensive clinical experience in TTR-FAP referral centres. A two-stage modified Delphi technique was adopted – on 1st round a questionnaire was applied and on the 2nd round a consensus meeting was implemented. The resources analysed covered medical visits, laboratory tests, imaging examinations, hospitalizations, medication, complications (e.g. dialysis), physical and rehabilitation sessions, medical devices (e.g. pacemaker) and mobility aids (e.g. crutches) and other daily-life supports. Unit costs were extracted from Portuguese official sources, wherever possible. Healthcare stage costs were obtained using weighted healthcare resource use and unit costs. A societal perspective was adopted. Disease-modifying oral treatment, liver transplant (with immunosuppressive regimens) and indirect costs were not included.

RESULTS: We can estimate that average annual healthcare costs are 4 859 €, 9 062 € and 12 425€ among patients in stage 1, 2 and 3, respectively.

CONCLUSIONS: TTR-FAP patients have increased associated costs as disease progresses. These results can contribute to the economic assessment of new and existing healthcare interventions, as data is sparse to inform decision making. Real-world registries are important to gain comprehensive knowledge on rare diseases and to document healthcare resource utilization.