Trigger finger as an initial manifestation of familial amyloid polyneuropathy in a patient with Ile107Val TTR

Intern Med. 2007;46(8):501-4. doi: 10.2169/internalmedicine.46.6008. Epub 2007 Apr 17.

Abstract

We describe a Japanese family with transthyretin Val107-related familial amyloid polyneuropathy (FAP). The clinical features were high-aged onset, sensorimotor polyneuropathy, carpal tunnel syndrome (CTS) and trigger finger. In addition, the proband showed cardiac conduction block and amyloid deposition in the sural nerve and dermis. Trigger finger may be a so far unknown clinical manifestation of Val107 FAP due to amyloid deposition in the connective tissue like CTS.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Aged
  • Amino Acid Substitution / genetics*
  • Amyloid Neuropathies, Familial / diagnosis
  • Amyloid Neuropathies, Familial / genetics*
  • Carpal Tunnel Syndrome / diagnosis
  • Carpal Tunnel Syndrome / genetics
  • Female
  • Humans
  • Isoleucine / genetics*
  • Male
  • Middle Aged
  • Prealbumin / genetics*
  • Trigger Finger Disorder / diagnosis
  • Trigger Finger Disorder / genetics*
  • Valine / genetics*

Substances

  • Prealbumin
  • Isoleucine
  • Valine