Autopsy and Case Reports
https://app.periodikos.com.br/journal/autopsy/article/doi/10.4322/acr.2021.326
Autopsy and Case Reports
Clinical Case Report

Diagnostic challenges in systemic amyloidosis: a case report with clinical and laboratorial pitfalls

Angelina Maria Martins Lino; Jussara Bianchi Castelli; Roberta Shcolnik Szor; Fabio Fernandes; Vera Demarchi Aiello

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Abstract

Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.

Keywords

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Diagnostic Errors, Amyloidosis, Familial, Light Chain Immunoglobulin Amyloidosis, Paraproteinemias

References

1 Neligan A, Reilly MM, Lunn MP. CIDP mimics and chamaleons. Pract Neurol. 2014;14(6):399-408. http://dx.doi.org/10.1136/practneurol-2014-000831. PMid:25035142.

2 Joint Task Force of the EFNS and the PNS. European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society – first revision. J Peripher Nerv Syst. 2010;15(1):1-9. http://dx.doi.org/10.1111/j.1529-8027.2010.00245.x. PMid:20433600.

3 Kuwabara S, Isose S, Mori M, et al. Different electrophysiological profiles and treatment response in ‘typical’ and ‘atypical’ chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry. 2015;86(10):1054-9. http://dx.doi.org/10.1136/jnnp-2014-308452. PMid:25424435.

4 Doneddu PE, Cocito D, Manganelli F, et al. Atypical CIDP: diagnostic criteria, progression, and treatment response. Data from the Italian CIDP database. J Neurol Neurosurg Psychiatry. 2019;90(2):125-32. http://dx.doi.org/10.1136/jnnp-2018-318714. PMid:30297520.

5 Saperstein DS, Katz JS, Amato AA, Barohn RJ. Clinical spectrum of chronic acquired demyelinating polyneuropathy. Muscle Nerve. 2001;24(3):311-24. http://dx.doi.org/10.1002/1097-4598(200103)24:3<311::AID-MUS1001>3.0.CO;2-A. PMid:11353415.

6 Yeung KB, Thomas PK, King RH, et al. The clinical spectrum of peripheral neuropathies associated with benign monoclonal IgM, IgG and IgA paraproteinaemia. Comparative clinical, immunological and nerve biopsy findings. J Neurol. 1991;238(7):383-91. http://dx.doi.org/10.1007/BF00319857. PMid:1660064.

7 Joint Task Force of the EFNS and the PNS. Joint Task Force of the EFNS and the PNS. European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinemic demyelinating neuropathies. Report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society – first revision. J Peripher Nerv Syst. 2010;15(3):185-95. http://dx.doi.org/10.1111/j.1529-8027.2010.00278.x. PMid:21040140.

8 Comenzo RL. Amyloidosis. Curr Treat Options Oncol. 2006;7(3):225-36. http://dx.doi.org/10.1007/s11864-006-0015-8. PMid:16615878.

9 Conceição I, de Carvalho M. Clinical variability in Type I Familial Amyloid Polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve. 2007;35(1):116-8. http://dx.doi.org/10.1002/mus.20644. PMid:16969832.

10 Kaku M, Berk JL. Neuropathy associated with systemic amyloidosis. Semin Neurol. 2019;39(5):578-88. http://dx.doi.org/10.1055/s-0039-1688994. PMid:31639841.

11 Conceição I, González-Duarte A, Obici L, et al. “Red-flag” symptoms clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9. http://dx.doi.org/10.1111/jns.12153. PMid:26663427.

12 Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346(23):1786-91. http://dx.doi.org/10.1056/NEJMoa013354. PMid:12050338.

13 Koike H, Kawagashira Y, Iijima M, et al. Electrophysiological features of late onset transthyretin Met 30 familial amyloid polyneuropathy unrelated to endemic foci. J Neurol. 2008;255(10):1526-33. http://dx.doi.org/10.1007/s00415-008-0962-z. PMid:18821042.

14 Cortese A, Vegezzi E, Lozza A, et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis in a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry. 2017;88(5):457-8. http://dx.doi.org/10.1136/jnnp-2016-315262. PMid:28188196.

15 Mathis S, Magy L, Diallo L, Boukhris S, Vallat JM. Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve. 2012;45(1):26-31. http://dx.doi.org/10.1002/mus.22229. PMid:22190302.

16 Lozeron P, Mariani LL, Dodet P, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018;91(2):e143-52. http://dx.doi.org/10.1212/WNL.0000000000005777. PMid:29907605.

17 Briemberg HR, Amato AA. Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies. Muscle Nerve. 2004;29(2):318-22. http://dx.doi.org/10.1002/mus.10614. PMid:14755500.

18 Kapoor M, Rossor AM, Jaunmuktane Z, Lunn MPT, Reilly MM. Diagnosis of amyloid neuropathy. Pract Neurol. 2019;19(3):250-8. http://dx.doi.org/10.1136/practneurol-2018-002098. PMid:30598431.

19 Muchtar E, Dispenzieri A, Magen H, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med. 2021;289(3):268-92. http://dx.doi.org/10.1111/joim.13169. PMid:32929754.

20 Glaudemans AWJM, Slart RHJA, Zeebregts CJ, et al. Nuclear imaging in cardiac amyloidosis. Eur J Nucl Med Mol Imaging. 2009;36(4):702-14. http://dx.doi.org/10.1007/s00259-008-1037-1. PMid:19156411.

21 Bokhari S, Shahzad R, Castaño A, Maurer MS. Nuclear imaging modalities for cardiac amyloidosis. J Nucl Cardiol. 2014;21(1):175-84. http://dx.doi.org/10.1007/s12350-013-9803-2. PMid:24162886.

22 Alexandrakis MG, Kyriakou DS, Passam F, Koukouraki S, Karkavitsas N. Value of Tc-99m sestamibi scintigraphy in detection of bone lesion in multiple myeloma: comparison with Tc-99m methylene diphosphonate. Ann Hematol. 2001;80(6):349-53. http://dx.doi.org/10.1007/s002770100302. PMid:11475149.

23 Shortt CP, Carty F, Murray JG. The role of whole-body imaging in the diagnosis, staging, and follow-up of multiple myeloma. Semin Musculoskelet Radiol. 2010;14(1):37-46. http://dx.doi.org/10.1055/s-0030-1248705. PMid:20229439.

24 Walker RC, Brown TL, Jones-Jackson LB, De Blanche L, Bartel T. Imaging of multiple myeloma and related plasma cell dyscrasias. J Nucl Med. 2012;53(7):1091-101. http://dx.doi.org/10.2967/jnumed.111.098830. PMid:22693310.

25 Wechalekar K, Ng FS, Poole-Wilson PA, et al. Cardiac amyloidosis diagnosed incidentally by bone scintigraphy. J Nucl Cardiol. 2007;14(5):750-3. http://dx.doi.org/10.1016/j.nuclcard.2007.07.002. PMid:17826329.

26 Esplin BL, Gertz MA. Current trends in diagnosis and management of cardiac amyloidosis. Curr Probl Cardiol. 2013;38(2):53-96. http://dx.doi.org/10.1016/j.cpcardiol.2012.11.002. PMid:23337445.

27 Coelho T, Sousa A, Lourenço E, Ramalheira J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet. 1994;31(4):293-9. http://dx.doi.org/10.1136/jmg.31.4.293. PMid:8071954.

28 Chaudhry HM, Mauermann ML, Rajkumar SV. Monoclonal gammopathy associated peripheral neuropathy: diagnosis and management. Mayo Clin Proc. 2017;92(5):838-50. http://dx.doi.org/10.1016/j.mayocp.2017.02.003. PMid:28473042.

29 Koba S, Inoue T, Otu M, Miura Y, Misago N, Narisawa Y. The occurrence of two types of amyloid in the same patient. Br J Dermatol. 2008;158(4):860-2. http://dx.doi.org/10.1111/j.1365-2133.2007.08432.x. PMid:18241258.

30 Martini F, Buda G, De Tata V, et al. Different types of amyloid concomitantly present in same patients. Hematol Rep. 2019;11(4):7996. http://dx.doi.org/10.4081/hr.2019.7996. PMid:31871608.

31 Jhaveri T, Sarosiek S, Ruberg FL, Siddiqi O, Berk JL, Sanchorawala V. Once AL amyloidosis: not always AL amyloidosis. Amyloid. 2018;25(2):139-40. http://dx.doi.org/10.1080/13506129.2018.1449104. PMid:29516761.

32 Mahmood S, Gilbertson JA, Rendell N, et al. Two types of amyloid In a single heart. Blood. 2014;124(19):3025-7. http://dx.doi.org/10.1182/blood-2014-06-580720. PMid:25377563.

33 Sidiqi MH, McPhail ED, Theis JD, et al. Two types of amyloidosis present in a single patient: a case series. Blood Cancer J. 2019;9(3):30. http://dx.doi.org/10.1038/s41408-019-0193-9. PMid:30837451.

34 Sethi S, Vrana JA, Theis JD, et al. Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis. Kidney Int. 2012;82(2):226-34. http://dx.doi.org/10.1038/ki.2012.108. PMid:22495291.

35 Röcken C, Wilhelm S. Influence of tissue fixation on the microextraction and identification of amyloid proteins. J Lab Clin Med. 2005;146(4):244-50. http://dx.doi.org/10.1016/j.lab.2005.06.009. PMid:16194686.

36 Gilbertson JA, Theis JD, Vrana JA, et al. A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue. J Clin Pathol. 2015;68(4):314-7. http://dx.doi.org/10.1136/jclinpath-2014-202722. PMid:25637636.

37 Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR 3rd, Dogan A. Classification of amyloidosis by laser microdissection and mass-spectometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114(24):4957-9. http://dx.doi.org/10.1182/blood-2009-07-230722. PMid:19797517.
 


Submitted date:
03/29/2021

Accepted date:
07/22/2021

Publication date:
10/01/2021

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