Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement

Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal...

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Main Authors: Valeria Guglielmino, Francesca Vitali, Angela Romano, Guido Primiano, Maria Ausilia Sciarrone, Marco Luigetti
Format: Article
Language:English
Published: Adis, Springer Healthcare 2025-01-01
Series:Neurology and Therapy
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Online Access:https://doi.org/10.1007/s40120-024-00696-5
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Summary:Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv. A thorough understanding of these biomarkers is essential for effective disease management and therapeutic monitoring.
ISSN:2193-8253
2193-6536