2026-04-14T02:44:26Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/125502025-10-24T10:24:20Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
Gonzalez-Moreno, Juan
author
Buades Reinés, Juan
author
Losada, Inés
author
Sevilla, Teresa
author
Martínez-Valle, Fernando
author
GALAN, LUCIA
2025-10-24T10:24:20Z
2025-10-24T10:24:20Z
2025-02-05T12:21:49Z2025-02-05T12:21:49Z2024-12-13
http://hdl.handle.net/11351/12550
Mutation; Amyloidosis; TransthyretinMutació; Amiloïdosi; TranstiretinaMutación; Amiloidosis; TranstiretinaBackground: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant systemic disease, where amyloid fibrils accumulate especially in the peripheral and autonomic nervous systems and in the heart. The aim of the present work was to outline the follow-up and type of management received by asymptomatic carriers (ACs) and Coutinho stage 1 ATTRv patients in Spain. Methods: A cross-sectional, non-interventional study was conducted throughout seven experienced hospitals in Spain. A total of 86 ACs without neurological symptoms and 19 Coutinho stage 1 ATTRv patients diagnosed 12 months before their enrollment were included. Clinical and demographic data, red flags, and neurological and cardiological evaluations were gathered. In addition, site variables were collected from four centers to describe the clinical management of ATTRv. Results: ATTRv clinical management varied depending on the center setting but was primarily overseen by neurology and internal medicine, which were responsible for the holistic follow-up of ACs and patients. Routinely, neurologists, neurophysiologists, cardiologists, and internal medicine conducted the follow-up. Specialties involved in initial AC assessment were neurophysiologists and cardiologists in 100% of cases, neurologists (75%), internists and geneticists (50%), and ophthalmologists (25%). A review of the medical tests performed proved an exhaustive management of the study population. Stable patients were followed up every 6 months, while those under evolution were monitored every 3–6 months. The frequency of monitoring of ACs was annual, and carriers classified with doubtful disease onset were visited every 3–6 months. Conclusions: The EMPATIa study provides valuable insights into the management of ATTRv in a real-world clinical setting in highly experienced hospitals in Spain. It demonstrates that multidisciplinary practice and enhanced disease awareness may lead to a reduction in diagnostic delay.This study was sponsored by Pfizer SLU.
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
Hospitals
Sistema nerviós - Malalties - Tractament
Albúmina
Amiloïdosi - Tractament
DISEASES::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Amyloid Neuropathies, Familial
CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Albumins::Serum Albumin::Prealbumin
HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management
HEALTH CARE::Health Care Facilities, Manpower, and Services::Health Facilities::Hospitals
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::neuropatías amiloideas familiares
COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::albúminas::albúmina sérica::prealbúmina
ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades
ATENCIÓN DE SALUD::instalaciones, servicios y personal de asistencia sanitaria::centros sanitarios::hospitales
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion