Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients

Since 1990, liver transplantation for familial amyloidotic polyneuropathy ( FAP) has been carried out world-wide, and the outcome of the procedure seem s to be promising. FAP is inherited systemic disease caused by mutated tran sthyretin. The most common cause is the valine to methionine substitution a t position 30 (Met30). We have developed a scoring system for FAP Met30 tha t takes into account a variety of clinical symptoms of the disease. Six pat ients with FAP Met30 underwent extensive examinations according to our scor ing system before and after transplantation. All patients survived the proc edure and are alive after transplantation. Improvements of sensory and auto nomic disturbances were observed during the initial 12 months after the pro cedure only, thereafter the patients' status remained unchanged. Following transplantation, no improvement of motor function and visceral organ damage were observed, but the modified body mass index improved in four of six pa tients after the operation. These results suggest that liver transplantatio n of FAP patients stops the progress of the disease, and that minor improve ments are noted in several patients after the procedure. However, transplan tation should be performed early after the onset of the disease in order to preserve the patients' functional status. (C) 1999 Elsevier Science B.V. A ll rights reserved.