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Diagnosis of amyloid neuropathy
  1. Mahima Kapoor1,
  2. Alexander M Rossor1,
  3. Zane Jaunmuktane2,
  4. Michael P T Lunn1,3,
  5. Mary M Reilly1
  1. 1 MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK
  2. 2 Division of Neuropathology, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
  3. 3 Department of Neuroimmunology, UCL Institute of Neurology, London, UK
  1. Correspondence to Professor Mary M Reilly, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK; m.reilly{at}ucl.ac.uk

Abstract

Systemic amyloidosis can be hereditary or acquired. The autosomal dominant hereditary transthyretin amyloidosis and the acquired light-chain amyloidosis, the result of a plasma cell dyscrasia, are multisystem disorders with cardiovascular, autonomic and peripheral nerve involvement. There are numerous investigational modalities available to diagnose systemic amyloidosis and to assess the extent of organ involvement, but it is frequently misdiagnosed due to its heterogeneous clinical presentations and misleading investigation findings. An accurate and timely diagnosis of amyloid neuropathy can greatly impact on the outcomes for patients, especially as there will soon be new gene-silencing treatments for hereditary transthyretin amyloidosis.

  • amyloid
  • neuropathy
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Footnotes

  • Contributors MMR: designed the study. MK: collected data and wrote a draft of the paper. All other authors provided detailed written edits and multiple further drafts of the review for publication. All authors work fulfilled the following: substantial contributions to the conception or design of the work or the acquisition, analysis or interpretation of data; drafting the work or revising it critically for important intellectual content; gave final approval of the version published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding AMR is funded by a Wellcome Trust Postdoctoral Fellowship for Clinicians (110043/Z/15/Z). MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943) and the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712) for their support. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. We are also grateful to David Hutt from National Amyloid Centre for providing the images from investigations.

  • Competing interests AMR has received support from Alnylam UK Limited to attend scientific meetings and an honorarium for speaking at a sponsored symposium.

  • Patient consent for publication Obtained.

  • Provenance and peer review Commissioned. Externally peer reviewed by Davide Pareyson, Milan, Italy.

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