[Variable clinical manifestations of familial amyloid polyneuropathy and living related liver transplantation].
Familial amyloid polyneuropathy (FAP) is clinically characterized by polyneuropathy and autonomic failure but it shows diverse clinical pictures in different families. We presented clinical and molecular biological findings for a peculiar family in which type I FAP and spinocerebellar ataxia type 1 (SCA-1) coexist. Type IV FAP which is also called familial amyloidosis, Finnish type (FAF), shows the triad of corneal lattice dystrophy, cranial neuropathy and various skin changes. Recently, 3 FAF families were reported in our country, and their clinical pictures and gene abnormalities closely resembled those seen in Finnish patients with this disease. FAP had long been considered to be a genetically determined incurable disorder. Since it has been shown that the precursors of amyloid fibrils (variant forms of transthyretin) in this disorder are produced mainly in the liver, successful results of liver transplantation (LT) were reported in several countries. In our country there are many FAP patients, but LT from a cadaveric donor is still not possible. We, therefore, performed a partial LT for 3 FAP patients using a graft taken from healthy family members, resulting in good outcomes. It seems likely that this partial LT is a very promising therapeutic approach for FAP patients.
Ikeda
S
S
Department of Medicine (Neurology), Shinshu University School of Medicine.
Yanagisawa
N
N
D017772:Amyloid Neuropathies / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D011228:Prealbumin / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology / Q000534:rehabilitation; D014184:Transplantation, Homologous
D011228:Prealbumin