Current diagnostic criteria for AL amyloidosis
DOI: https://doi.org/10.29296/25877305-2022-07-17
Issue:
7
Year:
2022
AL amyloidosis (AL-A) is an extremely heterogeneous disease in clinical manifestations with no pathognomonic symptoms. Early diagnosis and cytoreductive therapy allow most cases to achieve a positive effect and to stop the progression of organ dysfunction. There is a literature review of scientific information on modern methods for the diagnosis of systemic AL-A. Attention is drawn to the difficulties in diagnosis, as well as to the main clinical signs that make it possible to suspect this disease. Consideration is given to the international criteria confirming the diagnosis and prevalence of the process, as well as prognostic staging systems. The timely diagnosis of AL-A is the most important task for physicians of various specialties, who see these patients at the first stages.
Keywords:
AL amyloidosis
diagnosis
References:
- Хышова В.А., Рехтина И.Г., Фирсова М.В. и др. Трудности в диагностике первичного AL-амилоидоза. Онкогематология. 2021; 16 (3): 74–82. DOI: 10.17650/1818‑8346‑2021‑16‑3‑74‑82 [Khyshova V.A., Rekhtina I.G., Firsova M.V. et al. Difficulties in diagnosis of primary AL-amyloidosis. Oncohematology. 2021; 16 (3): 74–82 (in Russ.)]. DOI: 10.17650/1818-8346-2021-16-3-74-82
- Lousada I., Comenzo R.L., Landau H. et al. 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.
- Palladini G. et al. Systemic Light Chain Amyloidosis across Europe: Key Outcomes from a Retrospective Study of 4500 Patients. Blood (S1.). 2020; S1: Abstract 136.
- Gertz M.A., Comenzo R, Falk R. H. et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis. Am J Hematol. 2005; 79 (4): 319–28. DOI: 10.1002/ajh.20381
- Merlini G., Dispenzieri A., Sanchorawala V. et al. Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers. 2018; 4 (1): 38. DOI: 10.1038/s41572-018-0034-3
- Hallek R.M., Lehmacher K.W., Marx K.N. et al. Klinische studien langzeit-follow-up monoklonaler gammopathien unklarer signifikanz (MGUS). Der Internist. 2018; 59: 639–40.
- 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): 1046–53. DOI: 10.1182/bloodadvances.2018016402
- Rahel S., Flammer A.J., Sabine G. et al. Expert recommendation from the swiss amyloidosis network (SAN) for systemic AL-amyloidosis. Swiss Med Wkly. 2020; 150: w20364. DOI: 10.4414/smw.2020.20364
- Quarta C.C., Gonzalez-Lopez E., Gilbertson JA. et al. Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis. Eur Heart J. 2017; 38 (24): 1905–8. DOI: 10.1093/eurheartj/ehx047
- Kimmich C., Schönland S., Kräker S. et al. Amyloid in bone marrow smears in systemic light-chain amyloidosis. Amyloid. 2017; 24 (1): 52–9. DOI: 10.1080/13506129.2017.1314959
- Muchtar E., Dispenzieri A., Lacy M.Q. et al. Overuse of organ biopsies in immunoglobulin light chain amyloidosis (AL): the consequence of failure of early recognition. Ann Med. 2017; 49 (7): 545–51. DOI: 10.1080/07853890.2017.1304649
- Systemic Light chain amyloidosis. NCCN Clinical Practical Gaidenlines in Oncology. Version 1, 2022. URL: https://www.nccn.org/professionals/physician_gls/pdf/amyloidosis.pdf
- Kyle R.A., Therneau T.M., Rajkumar S.V. Prevalence of monoclonal gammopathy of undetermined significance. N Engl J Med. 2006; 354 (13): 1362–9. DOI: 10.1056/NEJMoa1709974
- Phull P, Sanchorawala V, Connors L.H. et al. Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid. 2018; 25 (1): 62–7. DOI: 10.1080/13506129.2018.1436048
- Palladini G., Milani P., Merlini G. Management of AL Amyloidosis in 2020. Blood. 2020; 136 (23): 2620–7. DOI: 10.1182/blood.2020006913
- Fotiou D., Dimopoulos M.A., Kastritis E. Systemic AL Amyloidosis: сurrent аpproaches to diagnosis and management. Hemasphere. 2020; 4 (4): e454. DOI: 10.1097/HS9.0000000000000454
- Phelan D., Collier P., Thavendiranathan P. Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart. 2012; 98 (19): 1442–8. DOI: 10.1136/heartjnl-2012-302353
- Salinaro F., Meier-Ewert H.K., Miller E.J. Longitudinal systolic strain, cardiac function improvement, and survival following treatment of light-chain (AL) cardiac amyloidosis. Eur Heart J Cardiovasc Imaging. 2017; 18 (9): 1057–64. DOI: 10.1093/ehjci/jew298
- Fontana M., Pica S., Reant P. et al. Prognostic value of late gadolinium enhancement cardiovascular magnetic resonance in cardiac amyloidosis. Circulation. 2015; 132 (16): 1570–9. DOI: 10.1161/CIRCULATIONAHA.115.016567
- Banypersad S.M., Sado D.M., Flett A.S. et al. Quantification of myocardial extracellular volume fraction in systemic AL amyloidosis: An equilibrium contrast cardiovascular magnetic resonance study. Circ Cardiovasc Imaging. 2013; 6 (1): 34–9. DOI: 10.1161/CIRCIMAGING.112.978627
- Dispenzieri A., Kyle R., Merlini G. et al. International myeloma working group guidelines for serum-free light chain analysis in multiple myeloma and related disorders. Leukemia. 2009; 23: 215–24. DOI: 10.1038/leu.2008.307
- Bochtler T., Hegenbart U., Kunz C. et al. Translocation t(11;14) is associated with adverse outcome in patients with newly diagnosed AL amyloidosis when treated with bortezomib-based regimens. J Clin Oncol. 2015; 33: 1371–8. DOI: 10.1200/JCO.2014.57.4947
- Bochtler T., Hegenbart U., Kunz C. et al. Gain of chromosome 1q21 is an independent adverse prognostic factor in light chain amyloidosis patients treated with melphalan/dexamethasone. Amyloid. 2014; 21: 9–17. DOI: 10.3109/13506129.2013.854766
- Muchtar E., Dispenzieri A., Kumar S.K. et al. Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017; 31: 1562–9. DOI: 10.1038/leu.2016.369
- Sidana S., Larson D.P., Greipp P.T. et al. IgM AL amyloidosis: delineating disease biology and outcomes with clinical, genomic and bone marrow morphological features. Leukemia. 2020; 34 (5): 1373–82. DOI: 10.1038/s41375-019-0667-6
- Dispenzieri A., Gertz M.A., Kyle R.A. et al. Serum cardiac troponins and N-terminal pro-brain natriuretic peptide: a staging system for primary systemic amyloidosis. J Clin Oncol. 2004; 22: 3751–7. DOI: 10.1200/JCO.2004.03.029
- Wechalekar A.D., Schonland S.O., Kastritis E. et al. A European collaborative study of treatment outcomes in 346 patients with cardiac stage III AL amyloidosis. Blood. 2013; 121: 3420–34. DOI: 10.1182/blood-2012-12-473066
- Kumar S., Dispenzieri A., Lacy M.Q. 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
- Palladini G., Hegenbart U., Milani P. A staging system for renal outcome and early markers of renal response to chemotherapy in AL amyloidosis. Blood. 2014; 124 (15): 2325–32. DOI: 10.1182/blood-2014-04-570010