Amyloidosis – short review

Authors

  • Agnieszka Danuta Gaczkowska Poznan University of Medical Sciences Department of Biochemistry and Molecular Biology 6 Swiecickiego Str. 60-781 Poznan, Poland Tel.: +48 618546511 Fax: +48 618546510
  • Paweł Jagodziński
  • Adrianna Mostowska

DOI:

https://doi.org/10.20883/jms.2016.101

Keywords:

amyloidosis, amyloid, diagnostic, treatment

Abstract

Amyloidosis is a heterogeneous group of disorders associated with pathological deposition of amyloid. We can recognize two major categories of amyloidosis: primary (AL) and secondary (AA) type. Systemic monoclonal immunoglobulin light-chain (AL) is the most common form of systemic amyloidosis. Systemic AA amyloidosis is associated with chronic inflammation or infective diseases and is the second common form of systemic amyloidosis. The golden standard in diagnosis of amyloidosis is biopsy. The model of treatment depends of type of amyloidosis. In some cases there is considerate cell transplantation. In AA the purpose is to decrease inflammation.

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References

Berk JL, O’Regan A, Skinner M. Pulmonary and Tracheobronchial Amyloidosis. Semin Resp Crit Care. 2002;23(2):155–165.

Chu H, Zhao L, Zhang Z, Gui T, Yi X, Sun X. Clinical characteristics od amyloidosis with isolated respiratory system involvement: A review of 13 cases. Ann Thorac Med. 2012;7:243–249.

Berraondo J, Novella L, Sanz F, Lluch R, de Casimiro E, Lloret T. Management of Tracheobronchial Amyloidosis With Therapeutic Bronchoscopic Techniques. Arch Bronconeumol. 2013;49(5):207–209.

Finocchiaro G, Merlo M, Pinamonti B, Barbati G, Santarossa E, Doimo S, et al. Long term survival in patients with cardiac amyloidosis. Prevalence and characterisation during follow-up. Heart Lung. 2013;22:647–654.

Lee AY, Godwin JD, Pipavath SNJ. Case 182: Pulmonary Amyloidosis. Radiology. 2012;263:929–932.

Kyle, R. A, Amyloidosis: a convoluted story. British Journal of Haematology, 114: 529–538.

F. Chiti, C. M. Dobson, Protein Misfolding, Functional Amyloid, and Human Disease. Annu. Rev. Biochem. 2006;75, 333–366.

Westermark P, Bergström J, Solomon A, et al. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003;10 Suppl 1:48.

Nasr SH, Said SM, Valeri AM, Sethi S, Fidler ME, Cornell LD, et al. The diagnosis and characteristics of renal heavy-chain and heavy/light-chain amyloidosis and their comparison with renal light-chain amyloidosis. Kidney Int. 2013;83:463–70.

Pinney JH, Lachmann HJ. Systemic AA amyloidosis. Subcell Biochem. 2012;65:541.

Booth DR, Booth SE, Gillmore JD, Hawkins PN, Pepys MB (1998) SAA1 alleles as risk factors in reactive systemic AA amyloidosis. Amyloid. 5:262–265.

Scarpioni R, Ricardi M, Albertazzi V. Secondary amyloidosis in autoinflammatory diseases and the role of inflammation in renal damage. World Journal of Nephrology. 2016;5(1):66–75.

Khalighi, Mazdak A., W. Dean Wallace, and Miguel F. Palma-Diaz. “Amyloid Nephropathy.” Clinical Kidney Journal 7.2 (2014):97–106. PMC. Web. 14 Mar. 2016.

Real de Asúa, Diego et al. Systemic AA Amyloidosis: Epidemiology, Diagnosis, and Management. Clinical Epidemiology 6 (2014):369–377. PMC. Web. 14 Mar. 2016.

Sekijima Y, Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):1036–43.

Sekijima Y, Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy. Rinsho Shinkeigaku. 2014;54(12):953–6.

Schiffl, H. (2014), Impact of advanced dialysis technology on the prevalence of dialysis-related amyloidosis in long-term maintenance dialysis patients. Hemodialysis International, 18: 136–141.

Yamamoto S, Gejyo F, Historical background and clinical treatment of dialysis-related amyloidosis. Biochim Biophys Acta. 2005 Nov 10;1753(1):4–10.

Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile Systemic Amyloidosis Presenting With Heart Failure: A Comparison With Light Chain–Associated Amyloidosis. Arch Intern Med. 2005;165(12):1425–1429.

Connors LH, Sam F, Skinner M, Salinaro F, Sun F, Ruberg FL, et al. Heart Failure Resulting From Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin: A Prospective, Observational Cohort Study. Circulation. 2016;133:282–290.

Westermark P, Bergström J, Solomon A, Murphy C, Sletten K, Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003 Aug;10 Suppl 1:48–54.

Sahlin, C., Lord, A., Magnusson, K., Englund, H., Almeida, C. G., Greengard, P., et al. (2007), The Arctic Alzheimer mutation favors intracellular amyloid-ß production by making amyloid precursor protein less available to ?-secretase. Journal of Neurochemistry, 101: 854–862.

Van Broeckhoven C, Haan J, Bakker E, Hardy JA, Van Hul W, Wehnert A, et al. Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science. 1990 Jun 1;248(4959):1120–2.

Levy E1, Prelli F, Frangione B.Studies on the first described Alzheimer's disease amyloid beta mutant, the Dutch variant. J Alzheimers Dis. 2006;9(3 Suppl):329–39.

Connors LH, Richardson AM, Théberge R, Costello CE. Tabulation of transthyretin (TTR) variants as of 1/1/2000. Amyloid. 2000 Mar;7(1):54–69.

Annamalai, K., Gührs, K.-H., Koehler, R., Schmidt, M., Michel, H., Loos, C., et al. (2016), Polymorphism of Amyloid Fibrils In Vivo. Angew. Chem. Int. Ed.

Prusiner, Stanley B. Biology and Genetics of Prions Causing Neurodegeneration. Annual review of genetics 47 (2013):601–623. PMC. Web. 15 Mar. 2016.

Gregorini G, Izzi C, Obici L, Tardanico R, Röcken C, Viola BF, et al. Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. J Am Soc Nephrol. 2005 Dec;16(12):3680–6. Epub. 2005 Oct 12.

Said, Samar M. et al. Renal Amyloidosis: Origin and Clinicopathologic Correlations of 474 Recent Cases. Clinical Journal of the American Society of Nephrology: CJASN 8.9 (2013):1515–1523. PMC. Web. 15 Mar. 2016.

Gillmore JD, Lachmann HJ, Wechalekar A, Hawkins PN. Hereditary fibrinogen A alpha-chain amyloidosis: clinical phenotype and role of liver transplantation. Blood. 2010 May 27;115(21):4313; author reply. 4314–5.

Rostagno, A. et al. “Cerebral Amyloidosis: Amyloid Subunits, Mutants and Phenotypes.” Cellular and molecular life sciences : CMLS 67.4 (2010):581–600. PMC. Web. 15 Mar. 2016.

Obici, L., Raimondi, S., Lavatelli, F., Bellotti, V. and Merlini, G. (2009), Susceptibility to AA amyloidosis in rheumatic diseases: A critical overview. Arthritis & Rheumatism, 61: 1435–1440.

Frame, N. M. and Gursky, O. (2016), Structure of serum amyloid A suggests a mechanism for selective lipoprotein binding and functions: SAA as a hub in macromolecular interaction networks. FEBS Letters. doi: 10.1002/1873–3468.12116.

Lane, T., Loeffler, J. M., Rowczenio, D. M., Gilbertson, J. A., Bybee, A., Russell, T. L., et al. (2013), Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes. Arthritis & Rheumatism, 65:1116–1121. doi: 10.1002/art.37827.

Howie AJ, Brewer DB. Optical properties of amyloid stained by Congo red: history and mechanisms. Micron. 2009;40(3):285–301.

Westermark P. Amyloid diagnosis, subcutaneous adipose tissue, immunohistochemistry and mass spectrometry. Amyloid. 2011 Dec;18(4):175–6. doi: 10.3109/13506129.2011.631270.

Brambilla, F., Lavatelli, F., Merlini, G. and Mauri, P. (2013), Clinical proteomics for diagnosis and typing of systemic amyloidoses. Prot. Clin. Appl., 7: 136–143. doi: 10.1002/prca.201200097

Linke RP. On typing amyloidosis using immunohistochemistry. Detailled illustrations, review and a note on mass spectrometry. Prog Histochem Cytochem. 2012 Aug;47(2):61–132. doi:10.1016/j.proghi.2012.03.001. Epub. 2012 Jul 20.

Mikhaleva LM, Gioeva ZV, Rëken K. Histological and immunohistochemical examinations in the diagnosis of hepatic amyloidosis. Arkh Patol. 2015 Jul-Aug;77(4):11–6.

Barnidge DR, Dispenzieri A, Merlini G, Katzmann JA, Murray DL. Monitoring free light chains in serum using mass spectrometry. Clin Chem Lab Med. 2016 Feb 4. pii: /j/cclm.ahead-of-print/cclm-2015–0917/cclm-2015–0917.xml. doi: 10.1515/cclm-2015–0917. [Epub ahead of print]

Merlini, Giampaolo, David C. Seldin, and Morie A. Gertz. “Amyloidosis: Pathogenesis and New Therapeutic Options.” Journal of Clinical Oncology 29.14 (2011):1924–1933. PMC. Web. 15 Mar. 2016.

Moreau, P., Leblond, V., Bourquelot, P., Facon, T., Huynh, A., Caillot, D., et al. (1998), Prognostic factors for survival and response after high-dose therapy and autologous stem cell transplantation in systemic AL amyloidosis: a report on 21 patients. British Journal of Haematology, 101: 766–769. doi: 10.1046/j.1365–2141.1998.00772.x

Tsukada N, Ikeda M, Shingaki S, Miyazaki K, Meshitsuka S, Yoshiki Y, et al. High-dose melphalan and autologous stem cell transplantation for systemic light-chain amyloidosis: a single institution retrospective analysis of 40 cases. Int J Hematol. 2016 Mar;103(3):299–305. doi: 10.1007/s12185–015–1922-x. Epub. 2015 Dec 24.

Hayashi T, Ikeda H, Igarashi T, Maruyama Y, Aoki Y, Nojima M, et al. Autologous stem cell transplantation for AL amyloidosis: adjustment of melphalan dose by factors including BNP. Int J Hematol. 2014 Dec;100(6):554–8. doi: 10.1007/s12185–014–1680–1. Epub. 2014 Oct 4.

Ortiz-Santamaría V, Olivé A, Valls-Roc M, Tena X. Treatment of AA amyloid with chlorambucil. Rheumatology (Oxford). 2002 Jul;41(7):833.

Mpofu S, Teh LS, Smith PJ, Moots RJ, Hawkins PN. Cytostatic therapy for AA amyloidosis complicating psoriatic spondyloarthropathy. Rheumatology (Oxford). 2003 Feb;42(2):362–6.

Hamanoue S, Suwabe T, Hoshino J, Sumida K, Mise K, Hayami N, et al. Successful treatment with humanized anti-interleukin-6 receptor antibody (tocilizumab) in a case of AA amyloidosis complicated by familial Mediterranean fever. Mod Rheumatol. 2015 Jan 25:1–4. [Epub ahead of print]

Iwakiri R, Sakemi T, Fujimoto K. Dimethylsulfoxide for renal dysfunction caused by systemic amyloidosis complicating Crohn's disease. Gastroenterology. 1999 Oct;117(4):1031–2.

Bodin, Karl et al. “Antibodies to Human Serum Amyloid P Component Eliminate Visceral Amyloid Deposits.” Nature 468.7320 (2010):93–97. PMC. Web. 15 Mar. 2016.

Sahota, T et al. “Target Mediated Drug Disposition Model of CPHPC in Patients with Systemic Amyloidosis.” CPT: Pharmacometrics & Systems Pharmacology 4.2 (2015): e15. PMC. Web. 15 Mar. 2016.

Ando Y. Effect of liver trasplantation on familial amyloidotic polyneuropathy (FAP) and its limt. Rinsho Shinkeigaku. 2011 Nov;51(11):1138–41.

Nelson LM, Penninga L, Sander K, Hansen PB, Villadsen GE, Rasmussen A, et al. Long-term outcome in patients treated with combined heart and liver transplantation for familial amyloidotic cardiomyopathy.

Campistol, J. M. (2001), Dialysis-Related Amyloidosis After Renal Transplantation. Seminars in Dialysis, 14: 99–102. doi: 10.1046/j.1525–139x.2001.00038.x

Yamamoto S, Gejyo F. Historical background and clinical treatment of dialysis-related amyloidosis. Biochim Biophys Acta. 2005 Nov 10;1753(1):4–10. Epub. 2005 Sep 30.

Wada T, Miyata T, Sakai H, Kurokawa K. Beta2-microglobulin and renal bone disease. Perit Dial Int. 1999;19 Suppl 2:S413–6.

Hosenpud JD, DeMarco T, Frazier OH, Griffith BP, Uretsky BF, Menkis AH, et al. Progression of systemic disease and reduced long-term survival in patients with cardiac amyloidosis undergoing heart transplantation. Follow-up results of a multicenter survey. Circulation. 1991 Nov;84(5 Suppl):III338–43.

Pantazis, Antonis et al. “Diagnosis and Management of Hypertrophic Cardiomyopathy.” Echo Research and Practice 2.1 (2015): R45–R53. PMC. Web. 16 Mar. 2016.

Feng D, Edwards WD, Oh JK, Chandrasekaran K, Grogan M, Martinez MW, et al. Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation. 2007 Nov 20;116(21):2420–6. Epub. 2007 Nov 5.

Nelson, Peter T. et al. “APOE-?2 and APOE-?4 Correlate with Increased Amyloid Accumulation in Cerebral Vasculature.” Journal of neuropathology and experimental neurology 72.7 (2013):708–715. PMC. Web. 29 Mar. 2016.

Benson MD. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. 8 ed. Vol 4. New York, NY: McGraw-Hill; 2001:5345–78.

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Published

2016-06-30

How to Cite

1.
Gaczkowska AD, Jagodziński P, Mostowska A. Amyloidosis – short review. JMS [Internet]. 2016 Jun. 30 [cited 2024 Mar. 29];85(2):146-51. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/101

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Review Papers
Received 2016-04-04
Published 2016-06-30