OBJECTIVES: To estimate the mean life-years and healthcare cost of transthyretin familial amyloid polyneuropathy (TTR-FAP), a rare and life-threatening neurodegenerative disease, using data from the largest and oldest Portuguese patient’s cluster.

METHODS: A stochastic Markov model was specified to predict life-years (LY) and associated costs (€) of TTR-FAP patients’ over their lifetime. The model tracks transitions of patients between three disease stages (Coutinho stages 1, 2 and 3) and death. Transition probabilities between disease stages were based on published results on natural history stage duration making use of an exponential distribution. Natural history overall survival (OS) was captured by the Kaplan-Meier survival estimates from the Portuguese TTR-FAP referral centers. Stage costs were elicited through a panel of Portuguese experts with extensive clinical experience. A societal perspective was adopted. Indirect costs were not included.

RESULTS: If untreated, TTR-FAP patients have a decreased mean life-expectancy after diagnosis of 12.72 years associated with mean healthcare costs of 125 645€ per patient.

CONCLUSIONS: TTR-FAP disease induces impressive healthcare costs and a reduced life expectancy. These results can contribute to the economic assessment of new healthcare interventions, as data in this rare disease is sparse. Real-world registries can contribute to augment comprehensive knowledge on this rare disease and to enhanced better informed decisions in the near future.