Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg

Background. Treatment of systemic amyloidosis comprises measures to support failing organ function coupled with attempts to reduce the supply of the r espective amyloid fibril precursor protein. Orthotopic hepatic transplantat ion is effective in familial amyloid polyneuropathy associated with variant transthyretin, because this protein is produced almost exclusively in the liver. Hepatic transplantation has not been performed in hereditary apolipo protein AI (apoAI) amyloidosis, and the liver's contribution to plasma apoA I levels has not been determined in vivo. Methods. A 57-year-old Irish man with hereditary systemic amyloidosis assoc iated with apoAI Gly26Arg, which had led to end-stage renal failure and pro gressive liver dysfunction, underwent hepatorenal transplantation. His outc ome was followed clinically and his amyloid deposits were monitored with se rum amyloid P component scintigraphy, The proportion of variant apoAI in th e plasma was estimated by quantitative isoelectric focusing before and afte r liver transplantation. Results. Plasma levels of variant apoAI decreased by 50% after Liver transp lantation, and the patient was asymptomatic 2 years after surgery. Subclini cal amyloid deposits that were present in his spleen and heart preoperative ly have regressed and stabilized respectively. Conclusions. Orthotopic liver transplantation substantially reduces the sup ply of the amyloid fibril precursor protein in hereditary apoAI amyloidosis , and the excellent outcome in this patient probably reflects the balance b etween deposition and turnover of amyloid having been altered in favor of t he latter, These findings support the use of liver transplantation in patie nts with hereditary apoAI amyloidosis who develop hepatic dysfunction.