ABSTRACT
The outcome and survival following liver transplantation for Familial amyloidotic polyneuropathy (FAP) vary substantially between different mutations, with best results reported for FAP transthyretin (TTR) Met30. This chapter describes the diversity in clinical features, disease course and outcomes amongst TTR variants in the UK series, and assess whether current standard criteria for patient selection for OLT are applicable uniformly across all TTR mutations. Between 1993 and 2003, 54 FAP patients underwent OLT, and 3 with the TTR Tyr77, Glu84 and Leu33 variants had combined heart/liver transplant. Initial presentation in all TTR Met30 cases was with sensorimotor neuropathy, and at later stages varying degrees of autonomic involvement. SAP scintigraphy identified visceral amyloid deposits in each case. Ubclinical cardiac autonomic dysfunction was common finding, but echocardiography was normal in 36 and demonstrated significant cardiac amyloid in only 4 cases. With the exception of cases with known family history, however, a definitive diagnosis of variant FAP had been commonly obtained by the time peripheral neuropathy was evident.
