Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца)

Терещенко С.Н., Жиров И. В., Моисеева О.М., Адашева Т.В., Аншелес А.А., Барбараш О.Л., Галявич А.С., Гудкова А.Я., Затейщиков Д.А., Костарева А.А., Насонова С.Н., Недогода С.В., Печерина Т.Б., Рыжкова Д.В., Сергиенко В.Б. Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца). Терапевтический архив. 2022;94(4):584–595. DOI: 10.26442/00403660.2022.04.201465

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Tereshchenko SN, Zhirov IV, Moiseeva OM, Adasheva TV, Ansheles AA, Barbarash OL, Galyavich AS, Gudkova AJa, Zateyshchikov DA, Kostareva AA, Nasonova SN, Nedogoda SV, Pecherina TB, Ryzhkova DV, Sergienko VB. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Terapevticheskii Arkhiv (Ter. Arkh.). 2022;94(4):584–595.
DOI: 10.26442/00403660.2022.04.201465

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Аннотация

В статье суммированы данные обновленных международных протоколов и рекомендаций по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП). Представлен краткий обзор по методам инвазивной и неинвазивной диагностики и их сочетаниям, для каждой из диагностических опций и инструментов приводится анализ доказательной базы. В статье описан адаптированный алгоритм последовательной диагностики и дифференциальной диагностики пациентов с подозрением на ATTR-КМП с учетом сочетания клинических проявлений и данных обследования. Предлагаемый алгоритм в сочетании с осведомленностью специалистов первичного звена о «красных флагах» заболевания и визуализирующих критериях, а также информирование пациента о возможности терапии ATTR-амилоидоза и опасностях отсроченной постановки диагноза позволят обеспечить своевременную маршрутизацию пациента и назначение специфического лечения.

Ключевые слова: транстиретиновая амилоидная кардиомиопатия, клинические рекомендации, диагностика, сердечная недостаточность с сохранной фракцией выброса, сцинтриграфия

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This paper summarizes the data from updated international protocols and guidelines for diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM). The invasive and non-invasive diagnosis techniques and their combinations are briefly reviewed; the evidentiary foundations for each diagnostic option and tool are analyzed. The paper describes a customized algorithm for sequential diagnosis and differential diagnosis of patients with suspected ATTR-CM with allowance for the combination of clinical signs and diagnostic findings. Along with the awareness of primary care providers about the red flags of the disease and visualization criteria, as well as providing information to the patients about the possibility of performing therapy of ATTR amyloidosis and the risks of delayed diagnosis, the proposed algorithm enables timely patient routing and prescribing specific treatment.

Keywords: transthyretin amyloid cardiomyopathy, clinical guidelines, diagnosis, heart failure with preserved ejection fraction, scintigraphy

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9. Kitaoka H, Izumi C, Izumiya Y, et al. JCS 2020 guideline on diagnosis and treatment of cardiac amyloidosis. Circ J. 2020;84(9):1610-71. DOI:10.1253/circj.CJ-20-0110.
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11. Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: Disease profiles and clinical courses of the 3 main types. Circulation. 2009;120(13):1203-12.
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12. Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-12.
DOI:10.1161/CIRCULATIONAHA.116.021612
13. Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019;26(1):3-9.
DOI:10.1080/13506129.2018.1556156
14. Akinboboye O, Shah K, Warner AL, et al. DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid. 2020;27(4):223-30. DOI:10.1080/13506129.2020.1764928
15. Yamashita T, Ueda M, Misumi Y, et al. Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol. 2018;265(1):134-40. DOI:10.1007/s00415-017-8640-7
16. Golbus JR, Wells JM, Dickinson MG, Hummel SL. Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis. Am J Med. 2018;131(7):e303-4. DOI:10.1016/j.amjmed.2018.02.005
17. Rowczenio D, Quarta CC, Fontana M, et al. Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience. Hum Mutat. 2019;40(1):90-6. DOI:10.1002/humu.23669
18. Cheng RK, Vasbinder A, Levy WC, et al. Lack of Association Between Neurohormonal Blockade and Survival in Transthyretin Cardiac Amyloidosis. J Am Heart Assoc. 2021;10(24):e022859. DOI:10.1161/JAHA.121.022859
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(in Russian). DOI:10.18087/cardio.2020.3.n824
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21. Kurian SM, Novais M, Whisenant T, et al. Peripheral blood cell gene expression diagnostic for identifying symptomatic transthyretin amyloidosis patients: Male and female specific signatures. Theranostics. 2016;6(11):1792-809. DOI:10.7150/thno.14584
22. Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016;29:S27-35. DOI:10.1097/WCO.0000000000000290
23. Lahuerta Pueyo C, Aibar Arregui MÁ, Gracia Gutierrez A, et al. Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data. Eur J Hum Genet. 2019;27(5):783-91. DOI:10.1038/s41431-019-0337-1
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Авторы

С.Н. Терещенко1,2, И.В. Жиров*1,2, О.М. Моисеева3,4, Т.В. Адашева5, А.А. Аншелес1, О.Л. Барбараш6,7, А.С. Галявич8, А.Я. Гудкова3,4, Д.А. Затейщиков9,10, А.А. Костарева3, С.Н. Насонова1, С.В. Недогода11, Т.Б. Печерина6, Д.В. Рыжкова3, В.Б. Сергиенко1

1 ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России, Москва, Россия;
2 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
3 ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России, Санкт-Петербург, Россия;
4 ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России, Санкт-Петербург, Россия;
5 ФГБОУ ВО «Московский государственный медико-стоматологический университет им. А.И. Евдокимова» Минздрава России, Москва, Россия;
6 ФГБНУ «Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний», Кемерово, Россия;
7 ФГБОУ ВО «Кемеровский государственный медицинский университет» Минздрава России, Кемерово, Россия;
8 ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава России, Казань, Россия;
9 ГБУЗ «Городская клиническая больница №51» Департамента здравоохранения г. Москвы, Москва, Россия;
10 ФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия;
11 ФГБОУ ВО «Волгоградский государственный медицинский университет» Минздрава России, Волгоград, Россия
*izhirov@mail.ru

________________________________________________

Sergey N. Tereshchenko1,2, Igor V. Zhirov1,2, Olga M. Moiseeva3,4, Tatiana V. Adasheva5, Alexey A. Ansheles1, Olga L. Barbarash6,7, Albert S. Galyavich8, Alexandra Ja. Gudkova3,4, Dmitry A. Zateyshchikov9,10, Anna A. Kostareva3, Svetlana N. Nasonova1, Sergey V. Nedogoda11, Tamara B. Pecherina6, Daria V. Ryzhkova3, Vladimir B. Sergienko1

1 Chazov National Medical Research Center of Cardiology, Moscow, Russia;
2 Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
3 Almazov National Medical Research Centre, Saint Petersburg, Russia;
4 Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia;
5 Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia;
6 Research Institute of Complex Problems of Cardiovascular Diseases, Kemerovo, Russia;
7 Kemerovo State Medical University, Kemerovo, Russia;
8 Kazan State Medical University, Kazan, Russia;
9 City Clinical Hospital №51, Moscow, Russia;
10 Central State Medical Academy of the President of the Russian Federation, Moscow, Russia;
11 Volgograd State Medical University, Volgograd, Russia
*izhirov@mail.ru

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