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<p>Hereditary transthyretin amyloidosis (ATTRv) presents unique challenges in diagnosis and monitoring due to its phenotypic and genetic heterogeneity. This study evaluates the utility of serum neurofilaments light chains (NfL) as a reliable biomarker of disease activity in patients carrying different pathogenic TTR variants. Twenty-eight ATTRv patients carrying the following mutations (p.Phe84Leu, p.Glu109Gln, p.Thr69Ala, p.Val50Met) as well as 8 carriers and 27 healthy control subjects underwent extensive examination, including serum NfL measurement, neuropathy impairment score for the lower limb (NIS-LL), compound autonomic dysfunction test (CADT), and polyneuropathy disability (PND) scores, at T0, T6 and T12. The study not only confirms the previously established correlation between serum NfL concentrations and disease severity scales but also extends these observations to the mutations reported here. Furthermore, the research highlights the potential of serum NfLs as discriminators between presymptomatic carriers and symptomatic patients, emphasizing their utility in predicting disease onset and facilitating timely intervention.</p>

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NfL as a biomarker in ATTRv amyloidosis: potential and limitations

  • 期刊论文

  • 发表日期：

    2025年3月19日

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  • Massimo Russo,
  • M. De Luca,
  • L. Gentile,
  • F. D’Arma,
  • A. Pugliese,
  • V. Macaione,
  • F. Polito,
  • L. Licitri,
  • A. Cafarchio,
  • M. H. Aguennouz,
  • C. Rodolico,
  • A. Mazzeo

摘要

Hereditary transthyretin amyloidosis (ATTRv) presents unique challenges in diagnosis and monitoring due to its phenotypic and genetic heterogeneity. This study evaluates the utility of serum neurofilaments light chains (NfL) as a reliable biomarker of disease activity in patients carrying different pathogenic TTR variants. Twenty-eight ATTRv patients carrying the following mutations (p.Phe84Leu, p.Glu109Gln, p.Thr69Ala, p.Val50Met) as well as 8 carriers and 27 healthy control subjects underwent extensive examination, including serum NfL measurement, neuropathy impairment score for the lower limb (NIS-LL), compound autonomic dysfunction test (CADT), and polyneuropathy disability (PND) scores, at T0, T6 and T12. The study not only confirms the previously established correlation between serum NfL concentrations and disease severity scales but also extends these observations to the mutations reported here. Furthermore, the research highlights the potential of serum NfLs as discriminators between presymptomatic carriers and symptomatic patients, emphasizing their utility in predicting disease onset and facilitating timely intervention.