TY - JOUR T1 - Atypical presentation of transthyretin amyloidosis in a non-endemic area JO - Revista Clínica Española (English Edition) T2 - AU - Gracia Gutiérrez,A. AU - Bueno Juana,E. AU - Lahuerta Pueyo,C. AU - Menao Guillén,S. AU - Escota Villanueva,J. AU - Aibar Arregui,M.Á. SN - 22548874 M3 - 10.1016/j.rceng.2018.11.003 DO - 10.1016/j.rceng.2018.11.003 UR - https://revclinesp.es/en-atypical-presentation-transthyretin-amyloidosis-in-articulo-S2254887418301796 AB - Background and objectiveThere are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. Material and methodsWe studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. ResultsWe detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. ConclusionsHereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction. ER -