Plasma biomarkers increase diagnostic confidence in patients with Alzheimer's disease or frontotemporal lobar degeneration.

Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101511643 Publication Model: Electronic Cited Medium: Internet ISSN: 1758-9193 (Electronic) NLM ISO Abbreviation: Alzheimers Res Ther Subsets: MEDLINE

Original Publication: [London] : BioMed Central Ltd.

Alzheimer Disease*/blood ; Alzheimer Disease*/diagnosis ; Biomarkers*/blood ; Frontotemporal Lobar Degeneration*/blood ; Frontotemporal Lobar Degeneration*/diagnosis ; Amyloid beta-Peptides*/blood ; tau Proteins*/blood; Humans ; Female ; Male ; Aged ; Peptide Fragments/blood ; Middle Aged ; Neurofilament Proteins/blood

Background: The recent development of techniques to assess plasma biomarkers has changed the way the research community envisions the future of diagnosis and management of Alzheimer's disease (AD) and other neurodegenerative disorders. This work aims to provide real world evidence on the clinical impact of plasma biomarkers in an academic tertiary care center.
Methods: Anonymized clinical reports of patients diagnosed with AD or Frontotemporal Lobar Degeneration with available plasma biomarkers (Aβ 42 , Aβ 42 /Aβ 40 , p-tau 181 , p-tau 231 , NfL, GFAP) were independently assessed by two neurologists who expressed diagnosis and diagnostic confidence three times: (T0) at baseline based on the information collected during the first visit, (T1) after plasma biomarkers, and (T2) after traditional biomarkers (when available). Finally, we assessed whether clinicians' interpretation of plasma biomarkers and the consequent clinical impact are consistent with the final diagnosis, determined after the conclusion of the diagnostic clinical and instrumental work-up by the actual managing physicians who had complete access to all available information.
Results: Clinicians assessed 122 reports, and their concordance ranged from 81 to 91% at the three time points. At T1, the presentation of plasma biomarkers resulted in a change of diagnosis in 2% (2/122, p = 1.00) of cases, and in increased diagnostic confidence in 76% (91/120, p < 0.001) of cases with confirmed diagnosis. The change in diagnosis and the increase in diagnostic confidence after plasma biomarkers were consistent with the final diagnosis in 100% (2/2) and 81% (74/91) of cases, respectively. At T2, the presentation of traditional biomarkers resulted in a further change of diagnosis in 13% (12/94, p = 0.149) of cases, and in increased diagnostic confidence in 88% (72/82, p < 0.001) of cases with confirmed diagnosis.
Conclusions: In an academic tertiary care center, plasma biomarkers supported clinicians by increasing their diagnostic confidence in most cases, despite a negligible impact on diagnosis. Future prospective studies are needed to assess the full potential of plasma biomarkers on clinical grounds.
(© 2024. The Author(s).)

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202223XMAF Ministero dell'Università e della Ricerca

Keywords: Alzheimer’s disease; Diagnosis; Diagnostic confidence; Frontotemporal lobar degeneration; Plasma biomarkers

0 (Biomarkers)
0 (Amyloid beta-Peptides)
0 (tau Proteins)
0 (Peptide Fragments)
0 (amyloid beta-protein (1-42))
0 (Neurofilament Proteins)
0 (neurofilament protein L)

Date Created: 20240511 Date Completed: 20240511 Latest Revision: 20240712

20240713

PMC11088144

10.1186/s13195-024-01474-z

38734612