Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The amyloid fibrils contain a variant transthyretin (TTR) molecule (TTR met30), over 90% of which is produced in the liver. After liver transplantation in two patients with severe symptomatic FAP, only normal TTR was detectable in circulation. The two patients are being monitored at regular intervals, and, although in one patient there was no evidence of reduction in the quantity of amyloid present at 6 months, there had been no further progression of the neuropathy.
Department of Clinical Genetics, University Hospital, Umeå, Sweden.
G
G
Holmgren
L
L
Steen
J
J
Ekstedt
C G
CG
Groth
B G
BG
Ericzon
S
S
Eriksson
O
O
Andersen
I
I
Karlberg
G
G
Nordén
M
M
Nakazato
D000328:Adult; D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005799:Genes, Dominant; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000209:etiology / Q000235:genetics*; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000032:analysis; D011863:Radioimmunoassay; D013548:Sweden
D011228:Prealbumin