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oai:repisalud.isciii.es:20.500.12105/152442024-09-27T09:20:26Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc de Frutos, Fernando author Ochoa, Juan Pablo author Gómez-González, Cristina author Reyes-Leiva, David author Aróstegui, Juan I author Casasnovas, Carlos author Barriales-Villa, Roberto author Sevilla, Teresa author Gonzalez-Lopez, Esther author Ramil, Elvira author Galan, Lucia author González-Costello, Jose author García-Álvarez, Ana author Rojas-Garcia, Ricard author Espinosa, Maria Angeles author Garcia-Pavia, Pablo author 2022-11-07 The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain. Patients with the p.Glu109Lys ATTRv variant from 14 families were recruited at 7 centres. Demographics, complementary tests and clinical course were analysed. Haplotype analysis was performed in 7 unrelated individuals. Thirty-eight individuals (13 probands, mean age 40.4 ± 13.1 years) were studied. After median follow-up of 5.1 years (IQR 1.7-9.6), 7 patients died and 7 required heart transplantation (median age at transplantation 50.5 years). Onset of cardiac and neurological manifestations occurred at a mean age of 48.4 and 46.8 years, respectively. Median survival from birth was 61.6 years and no individual survived beyond 65 years. Patients treated with disease-modifying therapies exhibited better prognosis (p < 0.001). Haplotype analysis revealed a common origin from an ancestor who lived ∼500 years ago in southeast Spain. Glu89Lys ATTRv is a TTR variant with a founder effect in Spain. It is associated with near complete penetrance, early onset and mixed cardiac and neurologic phenotype. Patients have poor prognosis, particularly if not treated with disease-modifying therapies. Amyloid . 2022 Nov 7;1-9. doi: 10.1080/13506129.2022.2142110 10.1080/13506129.2022.2142110 1744-2818 Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 36343383 http://hdl.handle.net/20.500.12105/15244 Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.