Hereditary transthyretin amyloidosis (ATTRv)

Abstract

Hereditary transthyretin (TTR) amyloidosis (ATTRv amyloidosis) is a devastating disease characterized by broad range of clinical manifestations, including predominantly neurological, predominantly cardiac, and mixed phenotypes. This wide phenotypic variability hindered timely disease diagnosis and risk stratification in the past, especially in individuals with absent or uncharted family history. However, recent advances in noninvasive testing have led to greater awareness and earlier diagnosis. Further, medications have been discovered which proved effective in controlling the disease and improving outcomes including stabilizing TTR, silencing TTR variants, and removing TTR amyloid from affected tissues. Importantly, CRISPR gene editing, a groundbreaking technology, offers the unique potential to cure ATTRv amyloidosis, transforming lives and opening new doors in medical science. This review provides an update on ATTRv amyloidosis mechanisms, diagnosis, and management emphasizing the importance of early diagnosis as the steadfast underpinning for the capitalization of the advances in medical treatment to the benefit of the patients.

Keywords: CRISPR; Cardiopathy; Gene silencers; Hereditary amyloidosis; Stabilizers; Transthyretin; polyneuropathy.