Este estudio se centra en la amiloidosis hereditaria por transtiretina (ATTRv) con la variante Val50Met en un área no endémica.
El objetivo es describir las variables fenotípicas, incluyendo manifestaciones preclínicas, cardiológicas, neurológicas y mixtas, en pacientes portadores de la variante Val50Met. Nuestro propósito es identificar criterios de inicio precoz de la enfermedad en pacientes inicialmente asintomáticos, mejorando las estrategias de detección temprana y tratamiento. Los participantes se someterán a diversas evaluaciones clínicas y pruebas para recopilar datos integrales.
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Laboratory assessments include blood and urine sample collection for serum chemistry, hematology, and urinalysis, with specific biomarker analyses (troponin T, NT-proBNP, Kappa, and Lambda light chains
Charata, Chaco Province, Argentina