title: Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation.
abstract: BACKGROUND
  Liver transplantation halts production of mutated transthyretin (TTR), and thus it is an accepted treatment, with improved survival, in patients with hereditary (familial) amyloidosis with polyneuropathy (FAP). However, the effects of transplantation on the clinical manifestations of FAP have not yet been adequately clarified. This study aimed to investigate whether liver transplantation would improve the long-term clinical manifestations in FAP patients who had undergone transplantations.
  
  
  METHODS
  We assessed 29 non-transplant and 36 transplant FAP V30M patients using an FAP clinical scoring system.
  
  
  RESULTS
  The total clinical score of the non-transplant group increased and was significantly correlated with FAP duration; that of the transplant group increased slowly after transplantation. In patients 5 years or more after FAP onset, the total clinical scores of the transplant group were significantly lower than those of the non-transplant group. In the same patients, scores for sensory, motor, autonomic and organ impairments of the transplant group were significantly lower than those of the non-transplant group.
  
  
  CONCLUSIONS
  Liver transplantation had beneficial effects on FAP clinical manifestations in patients with FAP TTR V30M. Liver transplantation should therefore be considered as an effective treatment in the clinical management of patients with FAP TTR V30M.
authors.affiliation: a Department of Neurology .
authors.forename: Kosuke
authors.initials: K
authors.lastname: Okumura
authors.affiliation: a Department of Neurology .|b Amyloidosis Diagnostic Unit .
authors.forename: Taro
authors.initials: T
authors.lastname: Yamashita
authors.affiliation: a Department of Neurology .
authors.forename: Teruaki
authors.initials: T
authors.lastname: Masuda
authors.affiliation: a Department of Neurology .
authors.forename: Yohei
authors.initials: Y
authors.lastname: Misumi
authors.affiliation: a Department of Neurology .
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ueda
authors.affiliation: a Department of Neurology .
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Ueda
authors.affiliation: c Department of Morphological and Physiological Sciences .
authors.forename: Konen
authors.initials: K
authors.lastname: Obayashi
authors.affiliation: d Department of Clinical Pharmaceutical Sciences , and.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Jono
authors.affiliation: a Department of Neurology .
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: e Department of Pediatric Surgery and Transplantation , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Inomata
authors.affiliation: a Department of Neurology .
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
mesh_terms: D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000235:genetics / Q000601:surgery*; D005260:Female; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011115:Polyneuropathies / Q000235:genetics / Q000601:surgery*; D011228:Prealbumin / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D011228:Prealbumin
keywords: Autonomic; clinical score; disease-modifying therapy; hereditary transthyretin amyloidosis; polyneuropathy; sensory and motor impairments