Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation.

Abstract

Liver transplantation (LT) has been reported in only 1 patient with hereditary variant apolipoprotein AI (apoAI) amyloidosis and was associated with a 50% decrease in production of variant apoAI. The potential for this to benefit clinical manifestations of apoAI amyloidosis such as peripheral neuropathy has not been determined. A 59-yr-old Irish-born male with hereditary systemic amyloidosis associated with apoAI Gly26Arg, which was suspected to be the cause of a progressive peripheral neuropathy, along with end-stage renal failure and hepatic dysfunction, underwent hepatorenal transplantation. Evaluation of his clinical outcome included serial neurological examinations and nerve conduction studies. The proportion of variant apoAI in the plasma was estimated before and after LT. Hepatorenal transplantation was successful, with the plasma concentration of variant apoAI decreasing by over 50% after transplantation and this was associated with progressive resolution of the patient's neuropathic symptoms and a significant and sustained improvement in electrophysiological parameters. In conclusion, liver transplantation reduces production of the amyloid fibril precursor protein to a degree that can facilitate net regression of amyloid deposits, which may aid recovery of end-organ damage such as that seen in peripheral neuropathy.