[Familial amyloidotic polyneuropathy (FAP) type I and the therapies]

Since autonomic dysfunction in familial amyloidotic polyneuropathy (FAP) Type I is recognized in the early stage of FAP patients and restricts their daily life, we developed various therapies for various autonomic manifestations: Loading glucose was often effective for faintness caused by hypoglycemia and erythropoietin was also good therapy for orthostatic hypotension as well as anemia found in the end stage of FAP patients. Stoma and nasal drop of L-threo-DOPS were useful to control diarrhea and orthostatic hypotension. Duplex ultrasonography of the 4 vessels revealed that reverse flow was always recognized in FAP patients with faintness, which was effectively treated by the administration of L-threo-DOPS. Orthotopic liver transplantation revealed effective therapy for autonomic dysfunction in FAP patients. Precise analysis of protein metabolism in FAP patients revealed that among apolipoproteins, only apolipoprotein AII decreased as the progression of the disease and high density lipoprotein gained the negative charge by agarose electrophoresis study. Concerning low density lipoprotein (LDL) study, only variant transthyretin in the circulation associated with LDL in FAP patients, suggesting that LDL may play an important role in the amyloid formation of FAP.