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
Subjects:
Online Access:https://doi.org/10.1007/s40120-024-00696-5
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author Valeria Guglielmino
Francesca Vitali
Angela Romano
Guido Primiano
Maria Ausilia Sciarrone
Marco Luigetti
author_facet Valeria Guglielmino
Francesca Vitali
Angela Romano
Guido Primiano
Maria Ausilia Sciarrone
Marco Luigetti
author_sort Valeria Guglielmino
collection DOAJ
description 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.
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institution Kabale University
issn 2193-8253
2193-6536
language English
publishDate 2025-01-01
publisher Adis, Springer Healthcare
record_format Article
series Neurology and Therapy
spelling doaj-art-0959260e02d943048ace4a0ecf8da19a2025-01-26T12:58:39ZengAdis, Springer HealthcareNeurology and Therapy2193-82532193-65362025-01-01141718410.1007/s40120-024-00696-5Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal InvolvementValeria Guglielmino0Francesca Vitali1Angela Romano2Guido Primiano3Maria Ausilia Sciarrone4Marco Luigetti5Department of Neuroscience, Università Cattolica del Sacro CuoreDepartment of Neuroscience, Università Cattolica del Sacro CuoreUOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCSDepartment of Neuroscience, Università Cattolica del Sacro CuoreDepartment of Neuroscience, Università Cattolica del Sacro CuoreDepartment of Neuroscience, Università Cattolica del Sacro CuoreAbstract 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.https://doi.org/10.1007/s40120-024-00696-5BiomarkersCardiac amyloidosisDisease progression monitoringEarly diagnosisMultisystemic diseaseNeurofilament light chain
spellingShingle Valeria Guglielmino
Francesca Vitali
Angela Romano
Guido Primiano
Maria Ausilia Sciarrone
Marco Luigetti
Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
Neurology and Therapy
Biomarkers
Cardiac amyloidosis
Disease progression monitoring
Early diagnosis
Multisystemic disease
Neurofilament light chain
title Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
title_full Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
title_fullStr Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
title_full_unstemmed Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
title_short Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement
title_sort serum biomarkers in transthyretin amyloidosis an overview of neurofilaments cardiac renal and gastrointestinal involvement
topic Biomarkers
Cardiac amyloidosis
Disease progression monitoring
Early diagnosis
Multisystemic disease
Neurofilament light chain
url https://doi.org/10.1007/s40120-024-00696-5
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