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Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

2023; Wiley; Volume: 31; Issue: 1 Linguagem: Inglês

10.1111/ene.16070

1468-1331

Ângela Romano, Guido Primiano, Giovanni Antonini, Marco Ceccanti, Silvia Fenu, Francesca Forcina, Luca Gentile, Maurizio Inghilleri, Luca Leonardi, Fiore Manganelli, Laura Obici, Andrea Sabino, Maria Ausilia Sciarrone, Stefano Tozza, Francesca Vitali, Marco Luigetti,

Coagulation, Bradykinin, Polyphosphates, and Angioedema

Abstract Background and purpose Hereditary transthyretin amyloidosis (ATTRv) is a life‐threatening disease caused by mutations in the gene encoding transthyretin ( TTR ). The recent therapeutic advances have underlined the importance of easily accessible, objective biomarkers of both disease onset and progression. Preliminary evidence suggests a potential role in this respect for neurofilament light chain (NfL). In this study, the aim was to determine serum NfL (sNfL) levels in a late‐onset ATTRv population and evaluate whether it might represent a reliable biomarker of disease onset (i.e., ‘conversion’ from the asymptomatic status to symptomatic disease in TTR mutation carriers). Methods In all, 111 individuals harbouring a pathogenic TTR variant (61 symptomatic ATTRv patients and 50 presymptomatic carriers) were consecutively enrolled. Fifty healthy volunteers were included as the control group. Ella™ apparatus was used to assess sNfL levels. Results Serum NfL levels were increased in ATTRv patients compared to both presymptomatic carriers and healthy controls, whilst not differing between carriers and healthy controls. An sNfL cut‐off of 37.10 pg/mL could discriminate between asymptomatic and symptomatic individuals with high diagnostic accuracy (area under the curve 0.958; p < 0.001), sensitivity (81.4%) and specificity (100%). Conclusions Serum NfL seems to be a promising biomarker of peripheral nerve involvement in ATTRv amyloidosis and might become a reliable, objective measure to detect the transition from the presymptomatic stage to the onset of symptomatic disease. Further longitudinal studies are needed to confirm such a role and determine whether it could equally represent a biomarker of disease progression and response to therapy.