Burden of Disease in Hereditary Transthyretin Amyloidosis With Polyneuropathy in Spain
Author(s)
Sandra Flores-Moreno, MD1, María Queralt Gorgas, MD2, Solange Kapetanovic, MD3, Margarita Capel Sanchez, MsC4, Marta Castro Gasch, MSc4, Susana Aceituno Mata, MSc5, Miriam Prades, PhD5, Inés Losada, MD6.
1Pharmacy Department, Hospital Universitario Virgen Del Rocío, Sevilla, Spain, 2Pharmacy Department, Vall d'Hebron University Hospital, Barcelona, Spain, 3Neurology Department, Bilbao-Basurto Integrated Health Organisation, Bilbao-Basurto, Spain, 4Astrazeneca Spain, Madrid, Spain, 5Evidenze Health, Barcelona, Spain, 6Internal Medicine Department, Hospital Universitario Son Llátzer, Palma, Spain.
1Pharmacy Department, Hospital Universitario Virgen Del Rocío, Sevilla, Spain, 2Pharmacy Department, Vall d'Hebron University Hospital, Barcelona, Spain, 3Neurology Department, Bilbao-Basurto Integrated Health Organisation, Bilbao-Basurto, Spain, 4Astrazeneca Spain, Madrid, Spain, 5Evidenze Health, Barcelona, Spain, 6Internal Medicine Department, Hospital Universitario Son Llátzer, Palma, Spain.
OBJECTIVES: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive, and life-threatening disease with significant unmet needs in diagnosis and management. The study assessed the impact of ATTRv-PN from societal, Spanish national healthcare system (SNHS), patient, and caregiver perspectives.
METHODS: A prevalence Excel-based model was developed to estimate direct, indirect and intangible costs associated with pre-diagnosis (from symptom onset to diagnosis) and follow-up (1-year) of ATTRv-PN. Direct medical and non-medical costs included visits, diagnosis/follow-up tests, hospitalizations, and transportation (excluding pharmacological cost). Indirect costs incorporated productivity losses (workplace/medical-related absenteeism) among employed patients and caregivers. Intangible costs, estimated using a willingness to pay approach, captured the disease’s impact on patients’ and caregivers’ daily lives. Model inputs were derived from published literature, a market research survey of Spanish patients and caregivers, and were validated by experts. Results were expressed as total costs for the prevalent population and mean cost per patient (€,2025).
RESULTS: For an estimated population of 746 patients (35% with caregiver), direct medical costs were estimated to be €4,569,876 (€6,126/patient; 38% visits, 24% tests, 39% hospitalizations) at pre-diagnosis (median: 2 [IQR:1-3] years)) and €2,455,689 (€3,292/patient; 60% visits, 9% tests, 32% hospitalizations) during follow-up (1-year). Non-medical costs were estimated to be €325,820 (€437/patient) at pre-diagnosis and €243,299 (€326/patient) at follow-up. Indirect costs were estimated at €327,609 (€439/patient) at pre-diagnosis and €640,376 (€858/patient) at follow-up (1-year). ATTRv-PN symptoms caused the greatest impact on patients' daily lives, reflected in significant intangible costs (€440,182; €590/patient). For caregivers, the emotional burden accounted for the highest intangible costs (€174,067; €667/caregiver).
CONCLUSIONS: ATTRv-PN imposes a substantial social and economic burden on SNHS, and a significant impact on patients’ and caregivers’ lives. The costs findings underscore the need for earlier diagnosis and comprehensive care. These insights can inform health policy and resource allocation to improve ATTRv-PN care.
METHODS: A prevalence Excel-based model was developed to estimate direct, indirect and intangible costs associated with pre-diagnosis (from symptom onset to diagnosis) and follow-up (1-year) of ATTRv-PN. Direct medical and non-medical costs included visits, diagnosis/follow-up tests, hospitalizations, and transportation (excluding pharmacological cost). Indirect costs incorporated productivity losses (workplace/medical-related absenteeism) among employed patients and caregivers. Intangible costs, estimated using a willingness to pay approach, captured the disease’s impact on patients’ and caregivers’ daily lives. Model inputs were derived from published literature, a market research survey of Spanish patients and caregivers, and were validated by experts. Results were expressed as total costs for the prevalent population and mean cost per patient (€,2025).
RESULTS: For an estimated population of 746 patients (35% with caregiver), direct medical costs were estimated to be €4,569,876 (€6,126/patient; 38% visits, 24% tests, 39% hospitalizations) at pre-diagnosis (median: 2 [IQR:1-3] years)) and €2,455,689 (€3,292/patient; 60% visits, 9% tests, 32% hospitalizations) during follow-up (1-year). Non-medical costs were estimated to be €325,820 (€437/patient) at pre-diagnosis and €243,299 (€326/patient) at follow-up. Indirect costs were estimated at €327,609 (€439/patient) at pre-diagnosis and €640,376 (€858/patient) at follow-up (1-year). ATTRv-PN symptoms caused the greatest impact on patients' daily lives, reflected in significant intangible costs (€440,182; €590/patient). For caregivers, the emotional burden accounted for the highest intangible costs (€174,067; €667/caregiver).
CONCLUSIONS: ATTRv-PN imposes a substantial social and economic burden on SNHS, and a significant impact on patients’ and caregivers’ lives. The costs findings underscore the need for earlier diagnosis and comprehensive care. These insights can inform health policy and resource allocation to improve ATTRv-PN care.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE116
Topic
Economic Evaluation, Health Service Delivery & Process of Care
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
Neurological Disorders, Rare & Orphan Diseases