ON THE ISSUE OF DIAGNOSIS AND TREATMENT OF SYSTEMIC AMYLOIDOSIS
https://doi.org/10.17802/2306-1278-2025-14-2-136-145
Abstract
Highlights
The article summarizes modern ideas about the classification, pathogenesis, main clinical symptoms, diagnosis and approaches to the treatment of systemic amyloidosis. An important postulate of today's diagnosis of amyloidosis is the morphological identification of amyloid in biopsies of affected tissues, including by typing. The goal of therapy for any type of amyloidosis remains the removal of precursor proteins, which justifies the use of certain aggressive drug regimens or other drastic measures. Recent achievements in studying the problem of amyloidosis have made it possible to formulate classification criteria for amyloidosis and treatment approaches, as well as significantly improve the prognosis of patients with various types of amyloidosis.
Abstract
Amyloidosis is a rare disease that can be diagnosed during life. More often, amyloidosis is asymptomatic or has non-specific symptoms. For this reason, diagnosis and treatment is carried out untimely, the results of therapy are ineffective. The purpose of this analytical review is to identify the most effective methods for early diagnosis of amyloidosis. To characterize a promising method of amyloidosis therapy for today. Thus, timely diagnosis of systemic amyloidosis and modern approaches to the treatment of this disease will increase the overall survival of patients.
About the Authors
Natalia A. Sukhova
Federal State Budgetary Educational Institution of Higher Education “Kemerovo State Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
PhD, Associate Professor, Department of Hospital Therapy and Clinical Pharmacology, Federal State Budgetary Educational Institution of Higher Education “Kemerovo State Medical University”, Ministry of Health of the Russian Federation, Kemerovo, Russian Federation
Lyubov O. Trusova
Federal State Budgetary Educational Institution of Higher Education “Kemerovo State Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Assistant Professor, Department of Hospital Therapy and Clinical Pharmacology, Federal State Budgetary Educational Institution of Higher Education "Kemerovo State Medical University", Ministry of Health of the Russian Federation, Kemerovo, Russian Federation
Dmitry A. Chernov
Kuzbass Clinical Pathology Bureau
Russian Federation
Russian Federation
Pathologist at the Kuzbass Clinical Pathology Bureau, Kemerovo, Russian Federation, State Budgetary healthcare institution of a special type
References
1. Batiushin M.M., Ablyakimova L.R., Sarvilina I.V. A rare form of systemic amyloidosis with kidney damage-AFIB-amyloidosis. South Russian Journal of Therapeutic Practice. 2023;4(1):106-112. DOI: 10.21886/2712-8156-2023-4-1-106-112 (in Russian)
2. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-54. DOI:10.1016/S0140-6736(15)01274-X
3. Rameev V.V., Myasnikov R.P., Vinogradov P.P., Kozlovskaya L.V., Moiseev S.V., Fomicheva E.I., Beregovskaya S.A., Mershina E.A., Kostina S.A., Strizhakov L.A., Rameeva A.S., Tao P.P., Drapkina O.M. Systemic ATTR-amyloidosis, a Rare Form of Internal Organ Damage. Rational Pharmacotherapy in Cardiology 2019;15(3):349-358. DOI:10.20996/1819-6446-2019-15-3-349-358 (in Russian)
4. Voloshinova E.V., Khorkina I.Yu., Dzuban A.M. et al. Systemic Amyloidosis with Cardiac Involvement: Features of Course and Diagnostic Difficulties. The Russian Archives of Internal Medicine. 2024; 14(4): 312-320. DOI: 10.20514/2226-6704-2024-14-4-312-320. EDN: KRLRKW (in Russian)
5. Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2020;27(4):217-22. DOI:10.1080/13506129.2020.1835263
6. Kapоor P., Thenappan T., Singh E. Et al. Cardiac amyloidosis: a practical approach to diagnosis and management // Am. J. Med. 2011. Vol. 124. № 11. P. 1006–1015. DOI.org/10.1016/j.amjmed.2011.04.013
7. Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement from the American Heart Association. Circulation. 2020;142(1):E7-22. DOI:10.1161/CIR.0000000000000792
8. Lysenko (Kozlovskaya) LV, Rameev VV, Moiseev S, et al. Clinical guidelines for diagnosis and treatment of systemic amyloidosis. Clin Pharmacol DOI:10.32756/0869-5490-2020-1-13-24 Ther. 2020;29(1):13-24 (in Russian)
9. Bonderman D, Pölzl G, Ablasser K, et al. Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement. Wien Klin Wochenschr. 2020;132(23-24):742-61. DOI:10.1007/s00508-020-01781-z
10. Eniseeva E.S. Amyloid cardiomyopathy: diagnosis and treatment. Baikal Medical Journal. 2023; 2(4): 11-23. doi: 10.57256/2949-0715-2023-2-4-11-23 (in Russian)
11. Yilmaz A, Bauersachs J, Bengel F, et al. Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK). Clin Res Cardiol. 2021;110(4):479-506. DOI:10.1007/s00392-020-01799-3
12. Bakulina N.V., Nekrasova A.S., Gudkova A.Ya., et al. Systemic Amyloidosis: Clinical Manifestations and Diagnosis//Effective pharmacotherapy. 2020. Vol. 16. No. 24. Р. 68-76. DOI 10.33978/2307-3586-2020-16-24-68-76
13. Pearson K.T., Vota S. Amyloidosis and its management: amyloid neuropathies // Curr. Probl. Cancer. 2016. Vol. 40. № 5–6. P. 198–208 DOI: 10.1016/j.currproblcancer.2016.08.001
14. 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
15. Deunezhewa SM, Dzeranova LK, Perepelova MA, Shutova AS, Pigarova EA, Soldatova TV, Bondarenko EV, Dvoryanchikov YaV, Mikheenkov AA, Abrosimov AU, Troshina EA. Amyloid goiter: difficulties of differential diagnosis, choice of treatment tactics. Clinical and experimental thyroidology. 2024;20(1):49-55. doi: https://doi.org/10.14341/ket12797 (in Russian)
16. Ozdemir D, Dagdelen S, Erbas T. Endocrine involvement in systemic amyloidosis. Endocr Pract. 2010 Nov-Dec;16(6):1056-63. doi: 10.4158/EP10095.RA. PMID: 20570812.
17. Muhin, N. A. Nefrologija. Nacional'noe rukovodstvo. Kratkoe izdanie / gl. Red. N. A. Muhin. - Moskva : GJeOTAR-Media, 2020. - 608 s.
18. Pirogova O.V. Аmyloidosis of immunoglobulin light chains (al-amyloidosis). Literature review. The bulletin of hematology. Vol. XIX, №4, 2023. P. 34-52.
19. Stepanova, E. A. Sistemnyj amiloidoz kak nahodka na autopsii / E. A. Stepanova // Abrikosovskie chtenija : Materialy nauchno-prakticheskoj konferencii, Moskva, 19–20 maja 2023 goda. – Moskva: Obshhestvo s ogranichennoj otvetstvennost'ju "PRAKTIChESKAJa MEDICINA", 2023. – S. 117-120.
20. Prokopchik N. I. Features of amyloidosis of liver and other organs as revealed by autopsies/ N. I. Prokopchik// Hepatology and Gastroenterology. – 2017; 1(1): 80-84.
21. Maurer MS, Bokhari S, Damy T, et al: Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail 12(9):e006075, 2019. DOI:10.1161/CIRCHEARTFAILURE.119.006075
22. Vaxman I., Gertz M. Recent advances in the diagnosis, risk stratification and management of systemic light-chain amyloidosis // Acta Haematol. 2019. Vol. 141. № 2. P. 93–106. DOI: 10.1159/000495455
23. Dorbala S, Ando Y, Bokhari S, et al. ASNC/AHA/ASE/EANM/ HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 1 of 2 evidence base and standardized methods of imaging. J Nucl Cardiol. 2019;26(6):2065-123. DOI:10.1007/s12350-019-01760-6
24. Prokopchik N. I. Patologicheskaja anatomija. Makroskopicheskaja diagnostika: uchebnoe posobie dlja studentov uchrezhdenij, obespechivajushhih poluchenie vysshego obrazovanija po special'nosti «Mediko-diagnosticheskoe delo» / N. I. Prokopchik, A. V. Shul'ga. - Grodno : grgmu, 2019. - 240 c.
25. Gundapanenia BK, Sultanb MB, Keohaneb DJ, Schwartz JH. Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy. Eur J Neur 2018;25:464-8. doi:10.1111/ene.13510
26. Motrinchuk AS, Kasimova AR. Small interfering RNA: potential in real-world clinical practice. Real-World Data & Evidence. 2024;4(1):3-13. https://doi.org/10.37489/2782-3784-myrwd-46. EDN: XVNITY (in Russian)
27. Shilovskiy I.P., Pasikhov G.B., Smirnov V.V., Kofiadi I.A., Popova M.V., Strueva P.A., Khaitov M.R. Application of therapeutic nucleic acids and RNA interference to create products for personalised medicine. Biological Products. Prevention, Diagnosis, Treatment. 2024;24(2):157–171. https://doi.org/10.30895/2221-996X-2024-24-2-157-171 (in Russian)
28. Lavrov A.V., Zaklyazminskaya E.V. Gene therapy of cardiomyopathies: opportunities and current perspectives. Clinical and Experimental Surgery. Petrovsky Journal. 2023; 11 (1): 32–46. DOI: https://doi.org/10.33029/2308-1198- 2023-11-1-32-46 (in Russian)
29. Fontana M, Berk JL, Gillmore JD, et al. Vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy. N Engl J Med. 2024;Epub ahead of print. doi: 10.1056/NEJMoa2409134.
30.
Supplementary files
Review
For citations:
Sukhova N.A., Trusova L.O., Chernov D.A. ON THE ISSUE OF DIAGNOSIS AND TREATMENT OF SYSTEMIC AMYLOIDOSIS. Complex Issues of Cardiovascular Diseases. 2025;14(2):136-145. (In Russ.) https://doi.org/10.17802/2306-1278-2025-14-2-136-145
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