Long-term results of liver transplantation in four siblings from the same family with familial amyloidotic polyneuropathy type I TTR Ala-71

Transpl Int. 2000:13 Suppl 1:S171-3. doi: 10.1007/s001470050318.

Abstract

Familial amyloidotic polyneuropathy type I (FAP I) is a hereditary systemic amyloidosis usually involving the peripheral nervous system. In this paper we report our experience regarding the survival and the evolution of the sensory motor syndrome of the extremities and autonomic dysfunction in four siblings with the Ala-71 variant who were treated by liver transplantation (LT). The four siblings are alive 2-5 years after LT. After the operation, the seriated determinations of TTR-Ala-71 variant showed a constant decrease in serum levels in all cases. Our results support the proposal that LT should be indicated especially in forms with early clinical onset (3rd and 4th decades) and rapid progress to stop the neurological deterioration of the patients.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alanine
  • Amyloid Neuropathies / genetics
  • Amyloid Neuropathies / physiopathology
  • Amyloid Neuropathies / surgery*
  • Follow-Up Studies
  • Genetic Variation
  • Humans
  • Liver Transplantation* / physiology
  • Nuclear Family
  • Prealbumin / genetics*
  • Time Factors

Substances

  • Prealbumin
  • Alanine