Liver Transplantation and Combined Liver-Heart Transplantation in Patients with Familial Amyloid Polyneuropathy: A Single-Center Experience

Liver transplantation (LT) is the only curative option for patients with familial amyloid polyneuropathy (FAP) at present Twenty patients with FAP underwent LT between May 1998 and June 2007 Transthyretin mutations included predominantly the Val30Met mutation but also 10 other mutations Seven patients received a pacemaker prior to LT, and because of impairment of mechanical cardiac function, 4 combined heart-liver transplants were performed, 1 simultaneously and 3 sequentially. The first patient, who underwent simultaneous transplantation, died Seven patients died after LT with 5 dying within the first year after transplantation. The causes of death were cardiac complications (4 patients), infections (2 patients), and malnutrition (1 patient) One-year survival was 75 0%, and 5-year survival was 64 2%. Gly47Glu and Leu12-Pro mutations showed an aggressive clinical manifestation 2 patients with the GIy47Glu mutation, the youngest patients of all the non-Val30Met patients, suffered from severe cardiac symptoms leading to death despite LT Two siblings with the Leu12Pro mutation, who presented only with grand mat seizures, died after LT because of sepsis. In conclusion, the clinical course in patients with FAP is very variable. Cardiac symptoms occurred predominantly in patients with non-Val30Met mutations and prompted combined heart-liver transplantation in 4 patients Although early LT in Val30Met is indicated in order to halt the typical symptoms of polyneuropathy, additional complications occurring predominantly with other mutations may prevail and lead to life-threatening complications or a fatal outcome. Combined heart-liver transplantation should be considered in patients with restrictive cardiomyopathy Liver Transpl 16:314-323, 2010. (C) 2010 AASLD.