CLINICAL IMPROVEMENT AND AMYLOID REGRESSION AFTER LIVER-TRANSPLANTATION IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) is a fatal autosomal dominant di sorder. Progressive peripheral and autonomic neuropathy are associated with neural and visceral deposition of amyloid, derived most commonly from the Met-30 variant of the plasma protein transthyretin. We have reported previously that orthotopic liver transplantation causes promp t replacement of variant transthyretin by the donor wild-type in the p lasma. We now report clinical outcome 1-2 years after transplantation. Three of the first four patients have improved general wellbeing, wal king ability, and bowel function, and one of them has regained normal bladder and bowel function. There has been little objective improvemen t in peripheral neuropathy. The fourth patient, who had the most sever e neurological deficits and a complicated postoperative course, has no t improved but there has been no further deterioration in contrast to the inexorable progression before transplantation. Quantitative scinti graphy with radiolabelled serum amyloid P component showed visceral am yloid deposits in all three patients studied; in two who were followed serially the deposits regressed after transplantation in association with the clinical improvement. Another FAP patient who was also monito red prospectively for 2 years but who did not undergo transplantation, showed, as expected, progression of neuropathy and increased visceral amyloid deposition. Liver transplantation does therefore have importa nt benefits in FAP during the first 2 years after surgery. Neurologica l decline is halted and amyloid deposits can be mobilised. The best ti ming and long-term results of the procedure must now be established.