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<p>Transthyretin amyloidosis (ATTR amyloidosis) is a rare systemic disorder characterized by the extracellular deposition of amyloid fibrils, which can affect multiple tissues. Lumbar spinal stenosis (LSS), a condition involving narrowing of the lumbar spinal canal, has been frequently associated with amyloid deposition in the ligamentum flavum (LF). This study aimed to evaluate the prevalence of ATTR deposits in LF samples obtained from patients undergoing LSS surgery at two Italian centers. A total of 37 patients were included, with LF thickness measured via pre-operative MRI scans. Amyloid deposits were detected in 27% of patients, all confirmed as ATTR by immunohistochemistry. DNA analysis revealed no pathogenic mutations in the TTR gene, suggesting that the detected amyloid fibrils originated from the wild-type protein. LF thickness values were consistent with those reported in literature, supporting LF thickening as a potential marker of amyloid deposition. These findings contribute to the understanding of ATTR involvement in LSS and highlight the need for further research to explore the pathophysiological mechanisms and clinical significance of amyloid deposits in the LF.</p>

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Transthyretin amyloid deposition in the ligamentum flavum of an Italian cohort of patients with lumbar spinal stenosis

  • 期刊论文

  • 发表日期：

    2025年3月11日

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  • Francesca Vitali,
  • Silvia Fenu,
  • Alessandro Izzo,
  • Nicola Montano,
  • Filippo Maria Polli,
  • Alessandro Rapisarda,
  • Francesco Costa,
  • Marco Paolo Schiariti,
  • Marco Gessi,
  • Gianluca Marucci,
  • Giorgio Giaccone,
  • Maria Ausilia Sciarrone,
  • Valeria Guglielmino,
  • Angela Romano,
  • Davide Pareyson,
  • Marco Luigetti

摘要

Transthyretin amyloidosis (ATTR amyloidosis) is a rare systemic disorder characterized by the extracellular deposition of amyloid fibrils, which can affect multiple tissues. Lumbar spinal stenosis (LSS), a condition involving narrowing of the lumbar spinal canal, has been frequently associated with amyloid deposition in the ligamentum flavum (LF). This study aimed to evaluate the prevalence of ATTR deposits in LF samples obtained from patients undergoing LSS surgery at two Italian centers. A total of 37 patients were included, with LF thickness measured via pre-operative MRI scans. Amyloid deposits were detected in 27% of patients, all confirmed as ATTR by immunohistochemistry. DNA analysis revealed no pathogenic mutations in the TTR gene, suggesting that the detected amyloid fibrils originated from the wild-type protein. LF thickness values were consistent with those reported in literature, supporting LF thickening as a potential marker of amyloid deposition. These findings contribute to the understanding of ATTR involvement in LSS and highlight the need for further research to explore the pathophysiological mechanisms and clinical significance of amyloid deposits in the LF.