Pathological changes long after liver transplantation in a familial amyloidotic polyneuropathy patient

BMJ Case Rep. 2012 Aug 18:2012:bcr2012006593. doi: 10.1136/bcr-2012-006593.

Abstract

Liver transplantation (LT) reportedly prolongs the survival of patients with familial amyloidotic polyneuropathy (FAP), a fatal hereditary systemic amyloidosis caused by mutant transthyretin (TTR). However, what happens in systemic tissue sites long after LT is poorly understood. In the present study, we report pathological and biochemical findings for an FAP patient who underwent LT and died from refractory ventricular fibrillation more than 16 years after FAP onset. Our autopsy study revealed that the distributions of amyloid deposits after LT were quite different from those in FAP amyloidogenic TTR V30M patients not having had LT and seemed to be similar to those observed in senile systemic amyloidosis (SSA), a sporadic systemic amyloidosis derived from wild-type (WT) TTR. Our biochemical examination also revealed that this patient's cardiac and tongue amyloid deposits derived mostly from WT TTR. We propose that FAP patients after LT may suffer from SSA-like WT TTR amyloidosis in systemic organs.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloid Neuropathies, Familial / genetics
  • Amyloid Neuropathies, Familial / pathology*
  • Amyloid Neuropathies, Familial / surgery*
  • Autopsy
  • Brain Chemistry
  • Fatal Outcome
  • Gastrointestinal Tract / chemistry
  • Heart Ventricles / chemistry
  • Heart Ventricles / pathology
  • Humans
  • Kidney / chemistry
  • Liver / pathology
  • Liver Transplantation*
  • Lung / chemistry
  • Lung / pathology
  • Male
  • Pancreas / pathology
  • Peripheral Nerves / chemistry
  • Prealbumin / analysis*
  • Prealbumin / genetics
  • Thyroid Gland / chemistry
  • Tongue / chemistry

Substances

  • Prealbumin