TY - JOUR T1 - A descriptive study of transthyretin amyloidosis in a tertiary hospital without a referral unit JO - Revista Clínica Española (English Edition) T2 - AU - Bueno Juana,E. AU - Gracia Gutiérrez,A. AU - Melero Polo,J. AU - Roteta Unceta-Barrenechea,A. AU - Andrés Gracia,A. AU - Lahuerta Pueyo,C. AU - Menao Guillén,S. AU - Revilla Martí,P. AU - Aibar Arregui,M.Á. SN - 22548874 M3 - 10.1016/j.rceng.2021.01.010 DO - 10.1016/j.rceng.2021.01.010 UR - https://revclinesp.es/en-a-descriptive-study-transthyretin-amyloidosis-articulo-S2254887421001557 AB - Background and objectiveTransthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. Material and methodsDescriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. ResultsA total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. ConclusionsATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms. ER -