Open AccessLong‐term results of liver transplantation in four siblings from the same family with familial amyloidotic polyneuropathy type I TTR Ala‐71
Author(s) -
Ramirez P.,
Mingo P.,
Andreu F.,
Munar M.,
Hernández Q.,
Munítiz V.,
Robles R.,
SanchezBueno F.,
Parrilla P.
Publication year - 2000
Publication title -
transplant international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.998
H-Index - 82
eISSN - 1432-2277
pISSN - 0934-0874
DOI - 10.1111/j.1432-2277.2000.tb02013.x
Subject(s) - transthyretin , medicine , polyneuropathy , amyloidosis , liver transplantation , transplantation , gastroenterology , pediatrics
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.