Hereditární transthyretinová amyloidóza s polyneuropatií - současné možnosti diagnostiky a léčby

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Title in English Hereditary transthyretin amyloidosis with polyneuropathy - current diagnostic and treatment options
Authors

VLČKOVÁ Eva

Year of publication 2022
Type Article in Periodical
Magazine / Source Farmakoterapeutická revue
MU Faculty or unit

Faculty of Medicine

Citation
Web https://farmakoterapeutickarevue.cz/cs/hereditarni-transthyretinova-amyloidoza-s-polyneuropatii-soucasne-moznosti-diagnostiky-a-lecby
Keywords amyloid; transthyretin; hereditary amyloidosis; familial amyloid neuropathy; cardiomyopathy
Description Hereditary transthyretin amyloidosis (ATTRv) is a serious progressive multisystem disease caused by the mutation in the prealbumin (transthyretin, TTR) gene. Particular mutations are associated with either cardiac or neurological manifestations. The latter mainly presents with axonal sensorymotor polyneuropathy with frequent and serious autonomic symptoms. The diagnosis is confirmed by genetic or histopathologic methods. Besides symptomatic therapy, liver transplantation has historically been the standard of care in the treatment of ATTRv. In the last decade, TTR stabilizers and TTR gene silencers have been approved for the treatment of this serious and lifethreatening disease.
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