FAP Annual Costs and Burden Are Considerable, But in Line with Other Rare Diseases

The annual costs and disease burden associated with hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN), also known as familial amyloid polyneuropathy (FAP), are considerable but within the range of other rare diseases, a Portuguese study shows.

The study, titled “Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy,” was published recently in the Journal of Protein Folding Disorders.

Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN), or FAP, is a rare genetic disease that is associated with progressive neurodegeneration (loss of nerve cell function).

As the disease progresses, patients are unable to perform daily normal activities and require increased care. Additionally, patients experience a significant decline in their work productivity, as well as in health-related quality of life (HRQoL).

“The progressive and disabling nature of ATTRv-PN affecting a working-age population, combined with the need for a multidisciplinary approach to treatment, suggests there may be a substantial social-economic burden associated with this disease,” the authors wrote.

Cost-of-illness (COI) studies are designed to estimate the economic impact of a disease on a particular society by taking into account consumption of healthcare resources and the impact of associated disability on the economy.

Meanwhile, the objective of disease burden studies is to quantify the effects of an illness on health. It often is measured in terms of disability-adjusted life years (DALYs), which quantify the number of years lost due to disease.

Together, these types of studies aim to comprehensively describe the economic effect and magnitude of a given health condition.

Because there aren’t enough studies on the social, economic and health burden of ATTRv-PN, a group of researchers set out to estimate the COI and burden of disease of this condition in Portugal. “Portugal accounts for nearly 50% of the European [ATTRv-PN] patients and roughly 20% of the worldwide population,” they wrote.

Researchers retrieved data regarding healthcare resources use from public databases, previous Portuguese studies and published literature on the topic.

Overall, the total cost associated with ATTRv-PN in Portugal in 2016 was more than 52 million euros ($57.9 million) and the annual average cost per patient was 28,152 euros. ($31,366) .

Treatment, including medications and hospitalizations, accounted for 52% of total costs, while only 0.18% was devoted to disease prevention (such as genetic counseling).

Researchers broke down the annual average cost per patient and found that 79% could be attributed to direct costs and 21% to indirect costs.

The main components of direct costs were medications, which included symptomatic medications, Vyndaqel (tafamidis) and immunosuppressants for liver transplant patients, followed by hospitalizations. Direct non-medical costs accounted for up to 17% of the total direct costs and were largely due to informal care (provided by non-professional caregivers, such as relatives).

Indirect costs were measured by loss of productivity due to sick leave and early retirement.

Next, researchers studied the burden of illness of ATTRv-PN in Portugal. DALYs are estimated by adding the number of years lived with disability to the number of years of life lost due to premature mortality.

In total, 2,056 DALYs were lost, 26% of which were due to disability and 74% were due to death.

Finally, researchers compared cost of ATTRv-PN to that of other rare diseases, such as Duchenne muscular dystrophy and cystic fibrosis.

Interestingly, in comparison to the values reported for other rare diseases —  which ranged from 20,024 to 87,337 euros ($22,308 to $97,310) per patient per year — the cost of ATTRv-PN patients were among the lowest.

“Annual costs and burden of ATTRv-PN were considerable but within the range of other rare diseases,” the authors wrote.

Researchers hope that results of this study will allow policymakers to better understand the economic impact of ATTRv-PN and make better-informed and more efficient distribution of public resources.

“Policies and public interventions to prevent and reduce the burden of this disease should be [prioritized], since patients experience high excess mortality and morbidity and the disease imposes considerable societal costs,” they concluded.