Transthyretin amyloidosis. Fundamentals of pathogenesis, diagnosis, treatment, prognosis

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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.

About the authors

Mikhail M. Shavlovsky

Institute of Experimental Medicine; Academician I.P. Pavlov First Saint Petersburg State Medical University

Author for correspondence.
Email: mmsch@rambler.ru
ORCID iD: 0000-0002-2119-476X
SPIN-code: 5009-9383
ResearcherId: E-4115-2014

MD, Dr. Sсi. (Medicine), Professor, Head of the Laboratory of Human Molecular Genetics of the Department of Molecular Genetics; Leading Research Associate of the Laboratory of Cardiomyopathies of Heart and Vascular Research Institute

Russian Federation, 12 Academician Pavlov St., Saint Petersburg, 197022; 197022; L'va Tolstogo str. 6-8, Saint Petersburg, 197022

A. Ya. Gudkova

Academician I.P. Pavlov First Saint Petersburg State Medical University; Almazov National Medical Research Centre

Email: alexagood-1954@mail.ru
ORCID iD: 0000-0003-0156-8821

MD, Dr. Sсi. (Medicine), Head of the Laboratory of Cardiomyopathies of Heart and Vascular Research Institute, Professor of the Department of Faculty Therapy; Leading Research Associate of the Institute of Molecular Biology and Genetics

Russian Federation, L'va Tolstogo str. 6-8, Saint Petersburg, 197022; Akkuratova street 2, St. Petersburg, 197341

A. N. Krutikov

Academician I.P. Pavlov First Saint Petersburg State Medical University; Almazov National Medical Research Centre

Email: ankrutikov@yandex.ru
ORCID iD: 0000-0001-6897-6171
SPIN-code: 5919-8810

MD, Cand. Sci. (Medicine), Senior Research Associate of the Laboratory of Cardiomyopathies of Heart and Vascular Research Institute; Leading Researcher of the Scientific Department of Infiltrative Heart Disease

Russian Federation, L'va Tolstogo str. 6-8, Saint Petersburg, 197022; Akkuratova street 2, St. Petersburg, 197341

Olga I. Antimonova

Institute of Experimental Medicine

Email: oa0584@mail.ru
ORCID iD: 0000-0003-2843-7688
SPIN-code: 9214-2677
Scopus Author ID: 36019791600

Junior Research Associate of the Department of Molecular Genetics

Russian Federation, Acad. Pavlov Street 12, Saint-Petersburg, 197022

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