Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

Fernando De FrutosJuan Pablo OchoaCristina Gómez-GonzálezDavid Reyes-LeivaJuan Ignacio Aróstegui Carlos CasasnovasRoberto Barriales-VillaTeresa SevillaEsther Gonzalez-LopezElvira RamilLucia GalanJose González-CostelloAna García-ÁlvarezRicardo Rojas-GarcíaMaria Angeles EspinosaPablo García-Pavía

Published in: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (2022)

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.

Keyphrases

poor prognosis
early onset
long non coding rna
end stage renal disease
newly diagnosed
late onset
ejection fraction
chronic kidney disease
prognostic factors
heart failure
patient reported outcomes