Difficulties in diagnosing and treating AL amyloidosis: a case from practice
https://doi.org/10.18093/0869-0189-2025-35-4-568-576
Abstract
The term “amyloidosis” unites a group of rare diseases characterized by extracellular deposition of an insoluble fibrillar protein amyloid. Light chain amyloidosis (AL amyloidosis) is one of the most common and severe forms of this pathology that affects the heart (in the vast majority of patients), kidneys, gastrointestinal tract, nervous system, and skin. Without treatment, it takes from 6 to 12 months from the appearance of the first symptoms of heart damage to death. The diagnosis of AL amyloidosis is challenging due to the variety and non-specific nature of clinical manifestations and the need for morphological verification of the diagnosis. The possibilities of treating amyloidosis have significantly expanded recently and have made it possible to radically change the prognosis of the disease. However, the therapy can only take full effect with early diagnosis and the absence of irreversible organ damage.
The aim of the work is to demonstrate the complexity of diagnosis of this condition and the available treatments for the timely identified AL amyloidosis.
Conclusion. The presented clinical case demonstrates the potential of a multidisciplinary approach for early diagnosis and treatment of AL amyloidosis.
About the Authors
O. V. FesenkoRussian Federation
Oksana V. Fesenko, Doctor of Medicine, Pulmonologist-consultant, Main Military Clinical Hospital named after academician N.N.Burdenko,; Professor, Pulmonology Department, Russian Medical Academy of Continuous Professional Education
Gospital’naya pl. 3, Moscow, 105229;
ul. Barrikadnaya 2/1, build. 1, Moscow, 123995
N. B. Lyapkova
Russian Federation
Nataliya B. Lyapkova, Candidate of Medicine, Cardiologist
Gospital’naya pl. 3, Moscow, 105229
A. Yu. Osminina
Russian Federation
Anzhela Yu. Osminina, Head of the Laboratory, Center for Functional Diagnostic Research
Gospital’naya pl. 3, Moscow, 105229
M. Yu. Chernov
Russian Federation
Mikhail Yu. Chernov, Physician of Functional Diagnostics, Center for Functional Diagnostic Research
Gospital’naya pl. 3, Moscow, 105229
V. P. Romanov
Russian Federation
Vadim P. Romanov, Head of the Nephrology Department
Gospital’naya pl. 3, Moscow, 105229
A. N. Fursov
Russian Federation
Andrey N. Fursov, Doctor of Medicine, Professor, Head of the Cardiology Department
Gospital’naya pl. 3, Moscow, 105229
M. V. Drozd
Russian Federation
Mariya V. Drozd, Hematologist
Gospital’naya pl. 3, Moscow, 105229
V. P. Pop
Russian Federation
Vasiliy P. Pop, Candidate of Medicine, Head of the Department of High-Dose Chemotherapy and Bone Marrow Transplantation
Gospital’naya pl. 3, Moscow, 105229
References
1. Al Hamed R., Bazarbachi A.H., Bazarbachi A. et al. Comprehensive Review of AL amyloidosis: some practical recommendations. Blood Cancer J. 2021; 11 (5): 97. DOI: 10.1038/s41408-021-00486-4.
2. Kyle R.A., Linos A., Beard C.M. et al. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood. 1992; 79 (7): 1817–1822. DOI: 10.1182/blood.V79.7.1817.1817.
3. Palladini G., Milani P., Merlini G. Novel strategies for the diagnosis and treatment of cardiac amyloidosis. Expert Rev. Cardiovasc Ther. 2015; 13 (11): 1195–1211. DOI: 10.1586/14779072.2015.1093936.
4. Obici L., Perfetti V., Palladini G. et al. Clinical aspects of systemic amyloid diseases. Biochim. Biophys. Acta. 2005; 1753 (1): 11–22. DOI: 10.1016/j.bbapap.2005.08.014.
5. Dima D., Mazzoni S., Anwer F. et al. Diagnostic and treatment strategies for AL amyloidosis in an era of therapeutic innovation. JCO Oncol. Pract. 2023; 19 (5): 265–275. DOI: 10.1200/OP.22.00396.
6. Lysenko (Kozlovskaya) L.V., Rameev V.V., Moiseev S.V. et al. [Clinical guidelines for diagnosis and treatment of systemic amyloidosis]. Klinicheskaya farmakologiya i terapiya. 2020; 29 (1): 13–24. Available at: https://clinpharm-journal.ru/files/articles/klinicheskie-rekomendatsii-po-diagnostike-i-lecheniyu-sistemnogo-amiloidoza.pdf (in Russian).
7. 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. DOI: 10.6004/jnccn.2023.0001.
8. Bhutani D., Lentzsch S. Diagnosis and management of systemic light chain AL amyloidosis. Pharmacol. Ther. 2020; 214: 107612. DOI: 10.1016/j.pharmthera.2020.107612.
9. Kristen A.V., Perz J.B., Schonland S.O. et al. Rapid progression of left ventricular wall thickness predicts mortality in cardiac light-chain amyloidosis. J. Heart Lung Transplant. 2007; 26 (12): 1313–1319. DOI: 10.1016/j.healun.2007.09.014.
10. Rameev V.V., Kozlovskaya L.V., Rameeva A.S. et al. [Evolution and prognostic value of heart disease in patientswith systemic AL-amyloidosis]. Klinicheskaya farmakologiya i terapiya. 2019; 29 (3): 26–33. DOI: 10.32756/0869-5490-2019-2-49-56 (in Russian).
11. Quock T.P., Yan T., Chang E. et al. Epidemiology of AL amyloidosis: a real-world study using US claims data. Blood Adv. 2018; 2 (10): 1046–1053. DOI: 10.1182/bloodadvances.2018016402.
12. Wisniowski B., Wechalekar A. Confirming the diagnosis of amyloidosis. Acta Haematol. 2020; 143 (4): 312–321. DOI: 10.1159/000508022.
13. Muchtar E., Gertz M.A , Laplant B. et al. Phase 2 trial of ixazomib, cyclophosphamide and dexamethasone for treatment of previously untreated light chain amyloidosis. Blood. 2020; 136 (Suppl. 1): 52–53. DOI: 10.1182/blood-2020-138814.
14. Van de Wyngaert Z., Carpentier B., Pascal L. et al. Daratumumab is effective in the relapsed or refractory systemic light-chain amyloidosis but associated with high infection burden in a frail real-life population. Br. J. Haematol. 2020; 188 (3): e24–27. DOI: 10.1111/bjh.16282.
15. Yeh J.C., Shank B.R., Milton D.R., Qazilbash M.H. Adverse prognostic factors for morbidity and mortality during peripheral blood stem cell mobilization in patients with light chain amyloidosis. Biol. Blood Marrow Transplant. 2018; 24 (4): 815–819. DOI: 10.1016/j.bbmt.2017.11.040.
Review
For citations:
Fesenko O.V., Lyapkova N.B., Osminina A.Yu., Chernov M.Yu., Romanov V.P., Fursov A.N., Drozd M.V., Pop V.P. Difficulties in diagnosing and treating AL amyloidosis: a case from practice. PULMONOLOGIYA. 2025;35(4):568-576. (In Russ.) https://doi.org/10.18093/0869-0189-2025-35-4-568-576