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
Abstract
Keywords
References
1 Neligan A, Reilly MM, Lunn MP. CIDP mimics and chamaleons. Pract Neurol. 2014;14(6):399-408.
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.
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.
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.
5 Saperstein DS, Katz JS, Amato AA, Barohn RJ. Clinical spectrum of chronic acquired demyelinating polyneuropathy. Muscle Nerve. 2001;24(3):311-24.
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.
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.
8 Comenzo RL. Amyloidosis. Curr Treat Options Oncol. 2006;7(3):225-36.
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.
10 Kaku M, Berk JL. Neuropathy associated with systemic amyloidosis. Semin Neurol. 2019;39(5):578-88.
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.
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.
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.
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.
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.
16 Lozeron P, Mariani LL, Dodet P, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018;91(2):e143-52.
17 Briemberg HR, Amato AA. Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies. Muscle Nerve. 2004;29(2):318-22.
18 Kapoor M, Rossor AM, Jaunmuktane Z, Lunn MPT, Reilly MM. Diagnosis of amyloid neuropathy. Pract Neurol. 2019;19(3):250-8.
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.
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.
21 Bokhari S, Shahzad R, Castaño A, Maurer MS. Nuclear imaging modalities for cardiac amyloidosis. J Nucl Cardiol. 2014;21(1):175-84.
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.
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.
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.
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.
26 Esplin BL, Gertz MA. Current trends in diagnosis and management of cardiac amyloidosis. Curr Probl Cardiol. 2013;38(2):53-96.
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.
28 Chaudhry HM, Mauermann ML, Rajkumar SV. Monoclonal gammopathy associated peripheral neuropathy: diagnosis and management. Mayo Clin Proc. 2017;92(5):838-50.
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.
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.
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.
32 Mahmood S, Gilbertson JA, Rendell N, et al. Two types of amyloid In a single heart. Blood. 2014;124(19):3025-7.
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.
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.
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.
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.
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.
Submitted date:
03/29/2021
Accepted date:
07/22/2021
Publication date:
10/01/2021