[Transthyretin amyloidoses].
OBJECTIVE
Transthyretin amyloidoses are the most common form of amyloidosis. Two different types of transthyretin amyloidoses are described, one is rare, familial, its precursor is the mutated transthyretin, this type is called transthyretin amyloid, the other is more common, its precursor is wild transthyretin, this second type is called senile amyloid. The review describes the molecular, clinical and evolutives features of both types.


BACKGROUND
Transthyretin is a naturally beta-pleated protein. Reported mutations increase its proteolysis resistance and its ability to form amyloid deposits. While transthyretin amyloid is clinically aggressive (neuropathy, cardiomyopathy, nephropathy, and vitreous deposits), senile amyloid is slightly symptomatic (rarely congestive heart failure). The differential diagnosis is essentially based on molecular biology.


CONCLUSIONS
Liver transplantation is an effective treatment of transthyretin amyloid because it switches the mutated protein synthesis to the wild protein synthesis. Liver transplantation is sometimes associated with cardiac or kidney transplantation depending of the clinical presentation. Concerning a specific treatment, P component analogous are developed for inhibiting amyloid deposits formation. Tetrameric transthyretin structure stabilisators are in development.
Magy-Bertrand
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Service de médecine interne et immunologie clinique, CHU Jean-Minjoz, 2, boulevard Fleming, 25030 Besançon, France. nmagy@chu-besancon.fr
D000686:Amyloidosis / Q000175:diagnosis / Q000453:epidemiology / Q000378:metabolism* / Q000628:therapy*; D003937:Diagnosis, Differential; D015316:Genetic Therapy; D006801:Humans; D016031:Liver Transplantation; D011228:Prealbumin / Q000378:metabolism*; D011379:Prognosis
D011228:Prealbumin