Liver Transplantation: An Effective Treatment For Familial ATTR Amyloidosis

Abstract

It has now been fifty years since the first reported case of Familial Amyloidotic Polyneuropathy (FAP) was described by Andrade in Portugal.1 Decades worth of supportive care offered little hope of cure for patients suffering from this progressive uniformly fatal disease. Over the years since the first description, much of the biochemical nature of the disease has been described. The disease is caused by a mutant transthyretin (TTR) protein. The majority of this is produced in the liver with smaller amounts produced in the retinal epithelium and choroid plexus of the brain. There have now been more than eighty point mutations in the TTR gene that have been associated with FAP.2