Introduction Liver transplantation (LT) is the only available treatment for familial amyloid polyneuropathy (FAP). The Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR), established shortly after LT was introduced as potential treatment for FAP in 1990, is a centralised service based in Karolinska Institute in Sweden for the collection, monitoring and analysis of international data on LT for FAP.
Aim We present here the long-term FAPWTR results on the 20 years anniversary of LT for FAP.
Results Between April 1990 and January 2010, data on 1782 liver transplant procedures and regular follow-up were reported to the FAP registry from 70 transplant centres in 18 countries. Annual international transplant activity for FAP has remained stable at 80–120 procedures since 1996. Among those 866 liver transplants were performed in Portugal, 216 in France, 130 in Sweden, followed by USA 79, UK 78, Brazil 77, Spain 74, Japan 65. The Mediterranean Val30Met transthyretin (TTR) mutation was identified in 83% of cases. A further 50 different variants were reported, collectively referred to as non-ValMet30, and additionally a dozen of non-TTR mutations such as Glu526Val and ApoA1 Gly26Arg. The Ser77Tyr and Thr60Ala mutations appear to be the commonest among non-Val30Met variants. Median age at LT was 38 years (range 21–72 years), 57% of patients were male. Median disease duration prior to transplantation was 3 years (range 0–30 years). Of patients in the Val30Met group 98% received isolated LT, while 11% of non-Val30Met cases required either simultaneous (9%) or sequential heart and liver transplant (2%). Overall 1-, 3-, 5-, and 10-year survival after LT in the entire FAP population including all variants was 86.9%, 81.8%, 77.6% and 71%. Five-year and 10-year survival in the Val30Met group was 80.9% and 73.4% respectively, significantly superior to 57.8% and 43.9% in the non-Val30Met group (p<0.001). Commonest cause of death was cardiac related events (24%), followed by sepsis (23%) or liver related complications (14%). Disease duration prior to transplantation, initial presentation with autonomic rather than peripheral neuropathy, TTR mutation, and modified body mass index (mBMI) of <600, indicating poor nutritional status, were identified as significant factors influencing survival after LT (p<0.01).
Conclusion Liver transplantation is rational and effective treatment for FAP with excellent long-term outcomes and 10-year survival >70%. Type of mutation, nutritional status, disease duration and degree of autonomic involvement are significant prognostic factors.
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