A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study
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.
Authors
- Teresa Sevilla (ORCID: https://orcid.org/0000-0003-4716-2667)
- Patricia Tarilonte (ORCID: https://orcid.org/0000-0002-7218-449X)
- Juan Buades Reinés
- Inés Losada López (ORCID: https://orcid.org/0000-0002-4834-0843)
- Francisco Muñoz Beamud
- Juan González‐Moreno (ORCID: https://orcid.org/0000-0001-8046-112X)
- Diana Primiano
- Francesca Setaro
- Manuel Romero Acebal
- José Eulalio Bárcena Llona
- Fernando Martinez Valle
- Lucía Galán Dávila
Institutions
- Universitat de València (ES)
- Hospital Clínico San Carlos (ES)
- Hospital Universitari i Politècnic La Fe (ES)
- Hospital Son Llatzer (ES)
- Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Health Research Institute of the Balearic Islands (ES)
- Vall d'Hebron Hospital Universitari (ES)
- Hospital Juan Ramón Jiménez (ES)
- Hospital de Cruces (ES)
- Pfizer (Spain) (ES)
- Hospital Clínico Universitario Virgen de la Victoria (ES)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-06
- DOI
- https://doi.org/10.1186/s13023-024-03304-9
- Citations
- 3
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Pfizer