Article
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
Journal of neurology, neurosurgery, and psychiatry - 14 May 2024
Beauvais Diane, Labeyrie Céline, Cauquil Cécile, Francou Bruno, Eliahou Ludivine, Not Adeline, Echaniz-Laguna Andoni, Adam Clovis, Slama Michel S, Benmalek Anouar, Leonardi Luca, Rouzet François, Adams David, Algalarrondo Vincent, Beaudonnet Guillemette
Abstract excerpt
BACKGROUND: Hereditary transthyretin amyloidosis is a life-threatening autosomal dominant systemic disease due to pathogenic TTR variants (ATTRv), mostly affecting the peripheral nerves and heart. The disease is characterised by a combination of symptoms, organ involvement and histological amyloid deposition. The available disease-modifying ATTRv treatments (DMTs) are more effective if initiated early....
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