Sistema de Salut de Catalunya
Institut Català de la Salut
[Galán Dávila L] Neurology Department, Hospital Clínico San Carlos, IdISSC, Madrid, Spain. [Martinez Valle F] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Buades Reinés J, Gonzalez Moreno J, Losada López I] Internal Medicine Department, Hospital Universitario Son Llàtzer, 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, Valencia, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Neurology Department, Universitat de València, Valencia, Spain
Vall d'Hebron Barcelona Hospital Campus
2024-10-15T09:46:12Z
2024-10-15T09:46:12Z
2024-09-06
Mutation; Amyloid; Asymptomatic carriers
Mutación; Amiloide; Portadores asintomáticos
Mutació; Amiloide; Portadors asimptomàtics
Background Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain. Methods National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment. Clinical and demographical data, TTR gene mutations, red flags anamnesis, neurological and cardiological assessments were collected. Results The mean age of patients was 56.8 years at onset and 58.6 years at diagnosis; 53% of patients and 51% of AC were from non-endemic areas. Val50Met was the most frequent mutation in both groups. Neuropathy impairment score data (mean 17.7 ± 20.5) and small-fibre function in lower limbs assessed with SUDOSCAN revealed that patients were diagnosed at early stages of neurological impairment. Peripheral polyneuropathy (84.2%), autonomic neuropathy (73.7%), cardiac (63.2%) and gastrointestinal (47.4%) alterations were the most common symptoms in patients. Autonomic neuropathy, gastrointestinal impairment, carpal tunnel syndrome, cardiac and ocular alterations were potentially related to ATTRv in the AC group. Conclusions The EMPATIa study provides a detailed description of AC and Coutinho stage 1 ATTRv patients across Spain, confirming the multisystemic clinical profile of the disease. This study reveals a diagnosis delay around 1.8 years, highlighting the importance of a profound disease awareness to reach a diagnose in earlier stages of neurological impairment.
This study was sponsored by Pfizer SLU.
Article
Published version
English
Anomalies cromosòmiques; Neuropatia - Aspectes genètics; Amiloïdosi - Aspectes genètics; Albúmina; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation; DISEASES::Nervous System Diseases::Neuromuscular Diseases::Peripheral Nervous System Diseases::Amyloid Neuropathies; Other subheadings::Other subheadings::Other subheadings::/genetics; CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Albumins::Serum Albumin::Prealbumin; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neuromusculares::enfermedades del sistema nervioso periférico::neuropatías amiloideas; Otros calificadores::Otros calificadores::Otros calificadores::/genética; COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::albúminas::albúmina sérica::prealbúmina
BMC
Orphanet Journal of Rare Diseases;19
https://doi.org/10.1186/s13023-024-03304-9
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3439]
