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

ABSTRACT

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.