Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Milou Berends; Hans Nienhuis; David Adams; Chafic Karam; Marco Luigetti; Michael Polydefkis; Mary Reilly; Yoshiki Sekijima; Bouke Pier Hazenberg

doi:10.20944/preprints202402.1673.v1

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preprints.org > medicine and pharmacology > clinical medicine > doi: 10.20944/preprints202402.1673.v1

Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Neurofilament Light Chain in Systemic Amyloidosis: A Systematic Review

Version 1 : Received: 28 February 2024 / Approved: 29 February 2024 / Online: 29 February 2024 (10:42:35 CET)

A peer-reviewed article of this Preprint also exists.

Berends, M.; Nienhuis, H.L.A.; Adams, D.; Karam, C.; Luigetti, M.; Polydefkis, M.; Reilly, M.M.; Sekijima, Y.; Hazenberg, B.P.C. Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review. Int. J. Mol. Sci. 2024, 25, 3770. Berends, M.; Nienhuis, H.L.A.; Adams, D.; Karam, C.; Luigetti, M.; Polydefkis, M.; Reilly, M.M.; Sekijima, Y.; Hazenberg, B.P.C. Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review. Int. J. Mol. Sci. 2024, 25, 3770.

Abstract

Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. Neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. This systematic review provides an overview on the value of NfL in early detection of neuropathy, central nervous system involvement, monitoring of neuropathy progression, and treatment effect in systemic amyloidosis. A literature search in PubMed, Embase and Web of Science was performed on 14-02-2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene variant (TTRv) carriers. Only studies containing original data were included. Included were twelve full-text articles and six abstracts describing 1604 participants: 298 controls and 1306 TTRv carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has potential to be used for early detection of neuropathy, monitoring treatment effect, and monitoring disease progression in patients with systemic amyloidosis.

Keywords

systemic amyloidosis; hereditary transthyretin amyloid; immunoglobulin light chain amyloid; transthyretin gene variant carrier; biomarker; neurofilament light chain; polyneuropathy; small fiber neuropathy; autonomic neuropathy

Subject

Medicine and Pharmacology, Clinical Medicine

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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