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BMJ Case Reports 2012; doi:10.1136/bcr-2012-006593
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

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

  1. Yukio Ando2
  1. 1Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan
  2. 2Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan
  3. 3Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan
  4. 4Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
  5. 5Department of Pediatric Surgery and Transplantation, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan
  1. Correspondence to Professor Yukio Ando, andoy709{at}kumamoto-u.ac.jp

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.

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