Patient with primary systemic amyloidosis: A difficult way to diagnosis


DOI: https://dx.doi.org/10.18565/therapy.2024.7.139-144

Eremina E.Yu., Strokova O.A., Zvereva S.I.

N.P. Ogarev National Research Mordovia State University, Saransk
Abstract. Article describes a clinical case of primary systemic amyloidosis, started with progressive renal and hepatic failure. The absence of pathognomonic symptoms and syndromes specific for this disease, all together with low clinical alertness of doctors, made the diagnostic search difficult, and the diagnosis of amyloidosis was verified only by pathological autopsy. The peculiarity of current clinical example is the undiagnosed basic nosology (amyloidosis), which debuted with symptoms of progressive renal and hepatic failure in a patient with no previous history, in addition to refractoriness to standard therapy and in the presence of indirect signs of amyloid deposition.

Literature


1. Benson M.D., Buxbaum J.N., Eisenberg D.S. et al. Amyloid nomenclature 2020: Update and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2020; 27(4): 217–22.


https://doi.org/10.1080/13506129.2020.1835263. PMID: 33100054.


2. Buxbaum J.N., Dispenzieri A., Eisenberg D.S. et al. Amyloid nomenclature 2022: Update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2022; 29(4): 213–19.


https://doi.org/10.1080/13506129.2022.2147636. PMID: 36420821.


3. Fotiou D., Dimopoulos M.A., Kastritis E. Systemic AL amyloidosis: Current approaches to diagnosis and management. Hemasphere. 2020; 4(4): e454.


https://doi.org/10.1097/HS9.0000000000000454. PMID: 32885146. PMCID: PMC7430233.


4. Kumar S.K., Callander N.S., Adekola K. et al. Systemic light chain amyloidosis, version 2.2023, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2023; 21(1): 67–81.


https://doi.org/10.6004/jnccn.2023.0001. PMID: 36652935.


5. Picken M.M. The pathology of amyloidosis in classification: a review. Acta Haematol. 2020; 143(4): 322–34.


https://doi.org/10.1159/000506696. PMID: 32392555.


6. Pinney J.H., Hawkins P.N. Amyloidosis. Ann Clin Biochem. 2012; 49(Pt 3): 229–41.


https://doi.org/10.1258/acb.2011.011225. PMID: 22402917.


7. Kittleson M., Ruberg F., Ambardekar A.V. et al. ACC Expert Consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis: A report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2023; 81(11): 1076–1126.


https://doi.org/10.1016/j.jacc.2022.11.022. PMID: 36697326.


8. Kravitz M.S., Pitashny M., Shoenfeld Y. Protective molecules – C-reactive protein, serum amyloid P, pentraxin3, mannose-binding lectin, and apolipoprotein A1, and their autoantibodies: Prevalence and clinical significance in autoimmunity. J Clin Immunol. 2005; 25(6): 582–91.


https://doi.org/10.1007/s10875-005-7828-2. PMID: 16380821.


9. Szalai A.J. C-reactive protein and autoimmune disease: Facts and conjectures. Clin Dev Immunol. 2004; 11(3-4): 221–26.


https://doi.org/10.1080/17402520400001751. PMID: 15559367. PMCID: PMC2486333.


10. Федулаев Ю.Н., Хабазов Н.В., Чупракова А.Ю. с соавт. Клинический случай наблюдения пациентки с первичным системным амилоидозом. Медицинский алфавит. 2020; (2): 46–48. (Fedulaev Yu.N., Khabazov N.V., Chuprakova A.Yu. et al. Clinical case of observation of patient with primary systemic amyloidosis. Meditsinskiy alfavit = Medical Alphabet. 2020; 2: 46–48 (In Russ.)).


https://doi.org/10.33667/2078-5631-2020-2-46-48. EDN: ZCBRAR.


11. Лысенко (Козловская) Л.В., Рамеев В.В., Моисеев С.В. с соавт. Клинические рекомендации по диагностике и лечению системного амилоидоза. Клиническая фармакология и терапия. 2020; 29(1): 13–24. (Lysenko (Kozlovskaya) L.V., Rameev V.V., Moiseev S.V. et al. Clinical guidelines for the diagnosis and treatment of systemic amyloidosis. Klinicheskaya farmakologiya i terapiya = Clinical Pharmacology and Therapy. 2020; 29(1): 13–24 (In Russ.)).


https://doi.org/10.32756/ 0869-5490-2020-1-13-24. EDN: UCEZAB.


12. Garcia-Pavia P., Rapezzi C., Adler Y. et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021; 42(16): 1554–68.


https://doi.org/10.1093/eurheartj/ehab072. PMID: 33825853. PMCID: PMC8060056.


13. 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.


https://doi.org/10.1253/circj.CJ-20-0110. PMID: 32830187.


14. Kyle R.A., Gertz M.A. Primary systemic amyloidosis: Clinical and laboratory features in 474 cases. Semin Hematol. 1995; 32(1): 45–59. PMID: 7878478.


15. Dima D., Mazzoni S. Diagnostic and treatment strategies for AL amyloidosis in an era of therapeutic innovation. JCO Oncol Pract. 2023; 19(5): 265–75.


https://doi.org/10.1200/OP.22.00396. PMID: 36854070.


16. Ghazanfar H., Khaja M., Haider A. et al. Hepatic amyloidosis as a rare cause of liver failure: A case report. Cureus. 2022; 14(7): e27274.


https://doi.org/10.7759/cureus.27274. PMID: 36039232. PMCID: PMC9403217.


17. Quock T.P., Yan T., Chang E., Guthrie S., Broder M.S: Epidemiology of AL amyloidosis: A real-world study using US claims data. Blood Adv. 2018; 2(10): 1046–53.


https://doi.org/10.1182/bloodadvances.2018016402. PMID: 29748430. PMCID: PMC5965052.


18. Nienhuis H.L., Bijzet J., Hazenberg B.P. The prevalence and management of systemic amyloidosis in western countries. Kidney Dis (Basel). 2016; 2(1): 10–19.


https://doi.org/10.1159/000444206. PMID: 27536687. PMCID: PMC4946260.


About the Autors


Elena Yu. Eremina, MD, Dr. Sci. (Medicine), professor, head of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University, chief freelance gastroenterologist of the Ministry of Healthcare of the Republic of Mordovia. Address: 430005, Saransk, 68 Bolshevistskaya St.
E-mail: eeu61@mail.ru
Olga A. Strokova, MD, PhD (Medicine), associate professor of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University. Address: 430005, Saransk, 68 Bolshevistskaya St.
E-mail: strokovaoa@rambler.ru
ORCID: https://orcid.org/0000-0003-2774-327X
Svetlana I. Zvereva, MD, PhD (Medicine), associate professor of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University. Address: 430005, Saransk, 68 Bolshevistskaya St.
E-mail: svzvereva@mail.ru


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