dc.contributor
Institut Català de la Salut
dc.contributor
[Losada López I, Gonzalez-Moreno J, Buades Reinés J] Internal Medicine Department, Hospital Universitario Son Llàtzer, Palma de Mallorca, Palma, Spain. Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, Instituto de Investigación Sanitaria de las Islas Baleares (IdISBa), Palma, Spain. [Sevilla T] Neurology Department, Hospital Universitari i Politècnic La Fe & IIS La Fe Universitat de València, Valencia, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Martinez Valle F] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Galán Dávila L] Neurology Department, Hospital Clínico San Carlos, IdISSC, Madrid, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Gonzalez-Moreno, Juan
dc.contributor.author
Buades Reinés, Juan
dc.contributor.author
Losada, Inés
dc.contributor.author
Sevilla, Teresa
dc.contributor.author
Martínez-Valle, Fernando
dc.contributor.author
GALAN, LUCIA
dc.date.accessioned
2025-10-24T10:24:20Z
dc.date.available
2025-10-24T10:24:20Z
dc.date.issued
2025-02-05T12:21:49Z
dc.date.issued
2025-02-05T12:21:49Z
dc.date.issued
2024-12-13
dc.identifier
Losada López I, Gonzalez-Moreno J, Buades Reinés J, Sevilla T, Martinez Valle F, Galán Dávila L, et al. Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study. J Clin Med. 2024 Dec 13;13(24):7587.
dc.identifier
https://hdl.handle.net/11351/12550
dc.identifier
10.3390/jcm13247587
dc.identifier
001392368700001
dc.identifier.uri
https://hdl.handle.net/11351/12550
dc.description.abstract
Mutation; Amyloidosis; Transthyretin
dc.description.abstract
Mutació; Amiloïdosi; Transtiretina
dc.description.abstract
Mutación; Amiloidosis; Transtiretina
dc.description.abstract
Background: 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.
dc.description.abstract
This study was sponsored by Pfizer SLU.
dc.format
application/pdf
dc.relation
Journal of Clinical Medicine;13(24)
dc.relation
https://doi.org/10.3390/jcm13247587
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Sistema nerviós - Malalties - Tractament
dc.subject
Amiloïdosi - Tractament
dc.subject
DISEASES::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Amyloid Neuropathies, Familial
dc.subject
CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Albumins::Serum Albumin::Prealbumin
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HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management
dc.subject
HEALTH CARE::Health Care Facilities, Manpower, and Services::Health Facilities::Hospitals
dc.subject
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::neuropatías amiloideas familiares
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::albúminas::albúmina sérica::prealbúmina
dc.subject
ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades
dc.subject
ATENCIÓN DE SALUD::instalaciones, servicios y personal de asistencia sanitaria::centros sanitarios::hospitales
dc.title
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
