Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Background: Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) is a rare life-threatening disease that imposes considerable mortality and morbidity associated with increased costs, high social support and productivity losses. This study aims to estimate the societal costs and burden of ATTRv-PN.Methods: A cost-of-illness (COI) and burden of disease model were specified from a societal perspective, using a prevalence-based approach. Direct and indirect costs were included. Healthcare resource use was retrieved from public databases, previous Portuguese studies and the literature. The burden of disease was expressed in terms of disability-adjusted life years (DALYs), as defined by the World Health Organisation.Results: In 2016, the total annual COI of ATTRv-PN in Portugal was 52,502,796€ and the mean cost per patient was 28,152€ (79% direct; 21% indirect costs). Treatments accounted for 52% of total costs, while 0.18% were devoted to disease prevention. A total of 2056 DALYs were lost, 26% due to disability and 74% due to death.Conclusions: Annual costs and burden of ATTRv-PN were considerable but within the range of other rare diseases. Policies and public interventions to prevent and reduce the burden of disease should be prioritised, since patients experience excess morbidity, mortality and total costs will likely increase in the future.

Original publication






Publication Date





89 - 96


Amyloidosis, Portugal, burden, cost-of-illness, healthcare resource use, hereditary transthyretin amyloidosis polyneuropathy