• Medicina clinica · Jun 2024

    Review

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

    • Isabel Conceição.
    • 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: imsconceicao@gmail.com.
    • Med Clin (Barc). 2024 Jun 28; 162 (12): e70e73e70-e73.

    AbstractHereditary 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.Copyright © 2024 Elsevier España, S.L.U. All rights reserved.

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