Early diagnosis in ATTRv amyloidosis, how early is enough? How early is possible?

Med Clin (Barc)

Departamento de Neurociências e Saúde Mental, Unidade Local de Saúde de Santa Maria, Hospital de Santa Maria, Centro Académico de Medicina de Lisboa, Lisboa, Portugal; Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Portugal. Electronic address:

Published: June 2024

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, progressive, and debilitating genetic disorder characterized by the deposition of abnormal transthyretin (TTR) protein aggregates in various tissues, leading to organ dysfunction. Early diagnosis of ATTRv amyloidosis is critical for starting timely interventions and improving patient outcomes. This review explores the concepts of "how early is enough" and "how early is possible" in the context of diagnosing ATTRv amyloidosis, highlighting the challenges and opportunities for early recognition.

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Source
http://dx.doi.org/10.1016/j.medcli.2024.02.013DOI Listing

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