Year: 2024
Type: article
Abstract: Among the 42 human amyloidoses described to date the so-called systemic transthyretin amyloidosis, which comprises hereditary forms (more than 140 variants in accordance with the number of identified mutations in the transthyretin gene) and a sporadic form without structural changes in the gene and the protein, is of particular interest. This review summarizes modern understandings of pathogenesis of transthyretin amyloidosis. The symptoms of different forms of transthyretin amyloidosis, issues of early diagnosis, differential diagnosis (including within the group of amyloidoses), advanced therapy and prognosis are considered. Special attention is given to the non-mutant form of transthyretin amyloidosis, the so-called senile amyloidosis, which significantly complicates the course of underlying pathologies in the age group older than 70 years and is still poorly diagnosed. A quite high occurrence of non-mutant form of transthyretin amyloidosis makes it to be considered as a socially significant disease.
Source: Medical academic journal
DOI: 10.17816/maj625774
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4402398187