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Amyloid and peripheral nervous system disease

J Haan1, W G Peters

  • 1Department of Neurology, University Hospital Leiden, The Netherlands.

Clinical Neurology and Neurosurgery
|February 1, 1994
PubMed
Summary

Peripheral nervous system amyloidosis involves beta 2-microglobulin, light chain amyloidosis, and heredofamilial forms. Early diagnosis of amyloid polyneuropathy is crucial, especially with family history or monoclonal gammopathy.

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Area of Science:

  • Neurology
  • Nephrology
  • Oncology

Background:

  • Amyloid deposition diseases can affect the peripheral nervous system.
  • Three main types of amyloidosis involve the peripheral nervous system: beta 2-microglobulin amyloidosis, light chain amyloidosis, and heredofamilial amyloid polyneuropathies.

Purpose of the Study:

  • To discuss the clinical and biochemical features of peripheral nervous system amyloid deposition diseases.
  • To highlight recently developed therapies for these conditions.
  • To emphasize diagnostic considerations for amyloid polyneuropathy in clinical practice.

Main Methods:

  • Review of clinical and biochemical features of three distinct amyloidosis groups.
  • Discussion of diagnostic criteria, including familial occurrence and monoclonal gammopathy.
  • Inclusion of information on emerging therapeutic strategies.

Main Results:

  • Beta 2-microglobulin amyloidosis is associated with long-term hemodialysis and carpal tunnel syndrome.
  • Light chain amyloidosis can cause polyneuropathy, carpal tunnel syndrome, and autonomic dysfunction, often linked to hematologic malignancies or solid tumors.
  • Heredofamilial amyloid polyneuropathies are frequently caused by transthyretin gene mutations.

Conclusions:

  • Peripheral nervous system involvement in amyloidosis is diverse, encompassing distinct etiologies and clinical presentations.
  • Timely recognition of amyloid polyneuropathy is essential, particularly in patients with a positive family history or monoclonal gammopathy.
  • Advances in therapy offer new hope for managing these complex conditions.

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