Приводятся сведения литературы и описание клинического течения заболевания при изолированном/преимущественном поражении сердца амилоидозом. Амилоидная кардиомиопатия является самой распространенной фенокопией гипертрофической кардиомиопатии. Подробно изложены современные возможности остеосцинтиграфии при проведении дифференциального диагноза между амилоидной кардиомиопатией, вызванной AL-амилоидозом, и транстиретиновым амилоидозом.
There are presented the literature data and a description of the clinical course of the disease in isolated/predominant cardiac amyloidosis. Amyloid cardiomyopathy is the most common phenocopy of hypertrophic cardiomyopathy. The modern possibilities of non-invasive diagnostics using osteoscintigraphy for the differential diagnosis between amyloid cardiomyopathy caused by AL- and transthyretin amyloidosis are described in detail.
Keywords: AL-amyloidosis, hypertrophic cardiomyopathy phenocopies, bone scintigraphy
Список литературы
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________________________________________________
1. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-54. doi: 10.1016/S0140-6736(15)01274-X
2. Sipe JD, Benson MD, Buxbaum JN, et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid. 2016;23(4):209-13. doi: 10.1080/13506129.2016.1257986
3. Skinner M, Sanchorawala V, Seldin DC, et al. High-Dose Melphalan and Autologous Stem-Cell Transplantation in Patients with AL Amyloidosis: An 8-Year Study. Ann Intern Med. 2004;140(2). doi: 10.7326/0003-4819-140-2-200401200-00008
4. Cacoub P, Axler O, De Zuttere D, et al. Amyloidosis and cardiac involvement. Ann Med Interne (Paris). 2000;151(8):611-7
5. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: Assessment, diagnosis, and referral. Heart. 2011;97(1):75-84. doi: 10.1136/hrt.2009.190405
6. Ryšavá R. AL amyloidosis: advances in diagnostics and treatment. Nephrol Dial Transplant. 2019;34(9):1460-6. doi: 10.1093/ndt/gfy291
7. van Gameren II, Hazenberg BPC, Bijzet J, van Rijswijk MH. Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum. 2006;54(6):2015-21. doi: 10.1002/art.21902
8. Picken MM. Amyloidosis. Where are we now and where are we heading? Arch Pathol Lab Med. 2010;134(4):545-51. doi: 10.1043/1543-2165-134.4.545
9. Rajkumar SV, Dimopoulos MA, Palumbo A, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014;15(12):e538-48. doi: 10.1016/S1470-2045(14)70442-5
10. Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29:S14-26. doi: 10.1097/WCO.0000000000000289
11. Dispenzieri A, Lacy MQ, Zeldenrust SR, et al. The activity of lenalidomide with or without dexamethasone in patients with primary systemic amyloidosis. Blood. 2007;109(2):465-70. doi: 10.1182/blood-2006-07-032987
12. Zamorano JL, Anastasakis A, Borger MA, et al. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: The task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-79. doi: 10.1093/eurheartj/ehu284
13. Ryzhkova DV, Makurova TV, Kozlenok AV, Mitrofanova LB. Scintigraphic diagnosis of transthyretin cardiac amyloidosis (clinical case demonstration). Russ Electron J Radiol. 2017;7(1):117-22. doi: 10.21569/2222-7415-2017-7-1-117-122
14. Bokhari S, Castaño A, Pozniakoff T, et al. 99mTc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013;6(2):195-201.
doi: 10.1161/CIRCIMAGING.112.000132
15. 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
16. Gudkova AYa, Polyakova AA, Amelin AV, et al. Non-Val30Met-transthyretin amyloid cardiomyopathy. Literature review and clinical case. Ros. kardiol. zhurn. 2018;2:21-128 (In Russ.) doi: 10.15829/1560-4071-2018-2-121-128
17. Kastritis E, Dimopoulos MA. Recent advances in the management of AL Amyloidosis. Br J Haematol. 2016;172(2):170-86. doi: 10.1111/bjh.13805
18. Sanchorawala V. Light-chain (AL) amyloidosis: diagnosis and treatment. Clin J Am Soc Nephrol. 2006;1(6):1331-41. doi: 10.2215/CJN.02740806
19. Reece DE, Hegenbart U, Sanchorawala V, et al. Long-term follow-up from a phase 1/2 study of single-agent bortezomib in relapsed systemic AL amyloidosis. Blood. 2014;124(16):2498-506. doi: 10.1182/blood-2014-04-568329
20. Kastritis E, Wechalekar AD, Dimopoulos MA, et al. Bortezomib with or without dexamethasone in primary systemic (light chain) amyloidosis. J Clin Oncol. 2010;28(6):1031-7. doi: 10.1200/JCO.2009.23.8220
21. Kumar S, Dispenzieri A, Lacy MQ, et al. Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol. 2012;30(9):989-95. doi: 10.1200/JCO.2011.38.5724
22. D’Souza A, Dispenzieri A, Wirk B, et al. Improved Outcomes After Autologous Hematopoietic Cell Transplantation for Light Chain Amyloidosis: A Center for International Blood and Marrow Transplant Research Study.
J Clin Oncol. 2015;33(32):3741-9. doi: 10.1200/JCO.2015.62.4015
23. Sharpley FA, Petrie A, Mahmood S, et al. A 24-year experience of autologous stem cell transplantation for light chain amyloidosis patients in the United Kingdom. Br J Haematol. 2019;5187(5):642-52. doi: 10.1111/bjh.16143
24. Lousada I, Comenzo RL, Landau H, Guthrie S, Merlini G. Light Chain Amyloidosis: Patient Experience Survey from the Amyloidosis Research Consortium. Adv Ther. 2015;32(10):920-8. doi: 10.1007/s12325-015-0250-0
25. Semernin E, Polyakova A, Krutikov A, et al. Sistemnye formy amiloidoza v kogorte patsientov s refrakternoi khronicheskoi serdechnoi nedostatochnost’yu v Sankt-Peterburge. Redkie orfannye zabolevaniya i vrozhdennye poroki razvitiya. Sovremennye vozmozhnosti diagnostiki, profilaktiki, lecheniya i reabilitatsii. Sankt-Peterburg, 2014; p. 204-18 (In Russ.)
26. Zagrebneva AI, Poteshkina NG, Kuznechenko DI, Babak VV. Sistemnyi amiloidoz, assotsiirovannyi s mnozhestvennoi mielomoi: klinicheskoe nablyudenie. RMZh. 2018;12(II):107-9 (In Russ.)
27. Nazipova ZM, Khaliullina LR, Akhmadeev AR, et al. Clinical case of AL-type amyloidosis. Prakt. meditsina. 2017;8(109):99-101 (In Russ.)
28. Galeeva ZM, Galyavich AS, Baleeva LV, et al. The Case of Amyloidosis in Cardiological Practice. Kardiologiya. 2019;59(1):93-6 (In Russ.) doi: 10.18087/cardio.2019.1.10221
29. Smirnova EA. Filonenko SP. Chronic heart failure in a female patient with systemic amyloidosis associated with multiple myeloma (case report). Serdechnaya nedostatochnost’. 2016;11(5):376-80 (In Russ.) doi: 10.18087/rhfj.2016.5.2253
30. Pashkovkina OV, Putintsev VA, Bogomolov DV, et al. The case of post-mortem diagnosis of plasmacytoma and systemic AL-amyloidosis with primary сardiac involvement. Literary references. Kremlevskaya meditsina. Klin. vestnik. 2018;4(2):52-61 (In Russ.). doi: 10.26269/9hyn-vw44
31. Rybakova MT, Semernin EN, Gudkova AYa, Kuznetsova IA. Cardiac manifestations of amyloidosis. Arkhiv patologii. 2009;71(2):3-7 (In Russ.)
32. Rameev VV, Kozlovskaya LV, Rameeva AS, e al. Evolution and prognostic significance of heart involvement in patients with systemic AL-amyloidosis. Klin. farmakologiia i terrapiia. 2019;28(2):49-56 (In Russ.) doi: 10.32756/ 0869-5490-2019-2-49-56
33. Maurer MS, Bokhari S, Damy T, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075
34. Banypersad SM, Moon JC, Whelan C, et al. Updates in cardiac amyloidosis: A review. J Am Heart Assoc. 2012;1(2). doi: 10.1161/JAHA.111.000364
35. Grogan M, Dispenzieri A. Natural history and therapy of AL cardiac amyloidosis. Heart Fail Rev. 2015;20(2):155-62. doi: 10.1007/s10741-014-9464-5
36. Tsai SB, Seldin DC, Wu H, et al. Myocardial infarction with “clean coronaries” caused by amyloid light-chain AL amyloidosis: a case report and literature review. Amyloid. 2011;18(3):160-4. doi: 10.3109/13506129.2011.571319
37. Semernin EN, Baranova EI, Kuznetsova IA, et al. Ed. E.V. Shlyakhto. Algoritmy diagnostiki i vrachebnaya taktika pri porazhenii serdechno-sosudistoi sistemy razlichnymi formami amiloidoza. Posobie dlya vrachei. Saint Petersburg: Izdatel’stvo SPbGMU, 2009; p. 95 (In Russ.)
1 ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. акад. И.П. Павлова» Минздрава России, Санкт-Петербург, Россия;
2 ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России, Санкт-Петербург, Россия;
3 ФГБВОУ ВО «Военно-медицинская академия им. С.М. Кирова» Минобороны России, Санкт-Петербург, Россия
*alexagood-1954@mail.ru
________________________________________________
Alexandra Ya. Gudkova*1,2, Sergei V. Lapekin1, Tinatin G. Bezhanishvili1, Maria A. Trukshina2, Victoria G. Davydova2, Aleksandr N. Krutikov1,2, Aleksandr N. Kulikov1,3, Anna A. Streltsova1, Sofiia E. Andreeva1, Roman V. Grozov2, Anzhelika A. Poliakova1,2, Anna A. Kostareva2, Galina N. Salogub1,2, Evgenii V. Shlyakhto1,2
1 Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia;
2 Almazov National Medical Research Center, Saint Petersburg, Russia;
3 Kirov Military Medical Academy, Saint Petersburg, Russia
*alexagood-1954@mail.ru