Transthyretin Familial Amyloid Polyneuropathy Mimicking Chronic Inflammatory Demyelinating Polyneuropathy
Familial Amyloid Polyneuropathy Case Report
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https://doi.org/10.17161/rrnmf.v1i3.13677Keywords:
Familial Amyloid Neuropathies, Chronic Inflammatory Demyelinating Polyradiculopathy, Diagnostic Errors, Diagnostic CriteriaMetrics
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References
1. Dimachkie MM, Saperstein DS. Acquired immune demyelinating neuropathies. Continuum (Minneap Minn). 2014; 20(5):1241-60. doi: 10.1212/01.CON.0000455883.91426.12. PubMed PMID: 25299280.
2. Dimachkie MM, Barohn RJ. Chronic inflammatory demyelinating polyneuropathy. Curr Treat Options Neurol. 2013; 15(3):350-66. doi: 10.1007/s11940-013-0229-6. PubMed PMID: 23564314.
3. Van den Bergh PY, Hadden RD, Bouche P, Cornblath DR, Hahn A, Illa I, et al. 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. Eur J Neurol. 2010;17:356-63. doi: 10.1111/j.1468-1331.2009.02930.x. PubMed PMID: 20456730.
4. Ad hoc Subcommittee of the American Academy of Neurology AIDS Task Force. Research for the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Neurol. 1991;41(5):617-18. PubMed PMID:2027473.
5. Tackenberg B, Lünemann JD, Steinbrecher A, Rothenfusser-Korber E, Sailer M, Brück W, et al. Classifications and treatment responses in chronic immune-medicated demyelinating polyneuropathy. Neurol. 2007;68:1622-9. doi: 10.1212/01.wnl.0000260972.07422.ea. PubMed PMID:117485651.
6. Creange A, Careyron A; French CIDP Study Group. The diagnosis of chronic demyelinating polyneuropathy: a Delphi-method approach. J Neurol. 2013;260:3015-22. doi: 10.1007/s00415-013-7100-2. PubMed PMID: 24052115.
7. Neligan A, Reilly MM, Lunn MP. CIDP: mimics and chameleons. Pract Neurol. 2014; 14:399-408. doi: 10.1136/practneurol-2014-00083. PubMed PMID: 25035142.
8. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016; 387(10038):2641-54. doi: 10.1016/S0140-6736(15)01274-X. PubMed PMID 26719234.
9. Jacobson DR, Buxbaum JN. Genetic aspects of amyloidosis. Adv Hum Gen. 1991; 20:69-123, 309-11. doi: 10.1007/978-1-4684-5958-6_2. PubMed PMID: 1839349.
10. Planté-Bordeneuve. Update in diagnosis and management of transthyretin familial polyneuropathy. J Neurol. 2014; 261:1227-1233. doi: 10.1007/s00415-014-7373-0. PubMed PMID: 24888313.
11. Planté-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurol. 2007; 69(7):693-8. doi: 10.1212/01.wnl.0000267338.45673.f4. PubMed PMID: 17698792.
12. Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurol. 2012; 79(8):785-792. doi: 10.1212/WNL.0b013e3182661eb1. PubMed PMID: 22843282.
13. Berk JL, Suhr OB, Obici L. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013; 310(24):2658-2667. doi: 10.1001/jama.2013.283815. PubMed PMID: 24368466.
14. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):22-31. doi: 10.1056/NEJMoa1716793. PubMed PMID: 29972757.
15. Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Eng J Med. 2018;379(1):11-21. doi: 10.1056/NEJMoa1716153. PubMed PMID: 29972753.
16. Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA,Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. Epub 2020 Jan 6. doi: 10.1007/s00415-019-09688-0. PubMed PMID: 31907599.
17. Eftimov F, Vermeulen M, van Doorn PA, Brusse E, van Schaik IN; PREDICT. Long-term remission of CIDP after pulsed dexamethasone or short-term prednisolone treatment. Neurol. 2012;78(14):1079-84. doi: 10.1212/WNL.0b013e31824e8f84. PubMed PMID: 22442436.
18. Franssen H, Vermeulen M, and Jennekens FG: Chronic inflammatory neuropathies. In Emery AEH (eds): Diagnostic criteria for neuromuscular disorders, 2nd edn. London: Royal Society of Medicine Press. 1997;53-59.
19. Allen JA, Lewis RA. CIDP diagnostic pitfalls and perception of treatment benefit. Neurol. 2015;85(6):498-504. doi: 10.1212/WNL.0000000000001833. PubMed PMID: 26180143.
20. Bokhari S, Castaño A, Pozniakoff T, Deslisle S, Latif F, Maurer MS. (99)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013;6(2):195-201. doi: 10.1161/CIRCIMAGING.112.000132. PubMed PMID: 23400849.
21. Lunn MPT, Willison HJ. Diagnosis and treatment of inflammatory neuropathies. J Neurol Neurosurg Psychiatry.2009;80(3):249-58. doi: 10.1136/jnnp.2008.158303. PubMed PMID: 19228670.
22. Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurol. 2018; 91(2):e143-52. doi: 10.1212/WNL.0000000000005777. PubMed PMID: 29907605.
23. Gertz MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015; 66(21):2451-66. doi: 10.1016/j.jacc.2015.09.075. PubMed PMID: 26610878.
24. Sattianayagam PT, Hahn, AF, Whelan, C, Gibbs SD, Pinney JH, Stangou AJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012; 33(9):1120-1127. doi: 0.1093/eurheartj/ehr383. PubMed PMID: 21992998.
25. Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015; 22(2):123-31. doi: 10.3109/13506129.2015. PubMed PMID: 26017327.
2. Dimachkie MM, Barohn RJ. Chronic inflammatory demyelinating polyneuropathy. Curr Treat Options Neurol. 2013; 15(3):350-66. doi: 10.1007/s11940-013-0229-6. PubMed PMID: 23564314.
3. Van den Bergh PY, Hadden RD, Bouche P, Cornblath DR, Hahn A, Illa I, et al. 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. Eur J Neurol. 2010;17:356-63. doi: 10.1111/j.1468-1331.2009.02930.x. PubMed PMID: 20456730.
4. Ad hoc Subcommittee of the American Academy of Neurology AIDS Task Force. Research for the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Neurol. 1991;41(5):617-18. PubMed PMID:2027473.
5. Tackenberg B, Lünemann JD, Steinbrecher A, Rothenfusser-Korber E, Sailer M, Brück W, et al. Classifications and treatment responses in chronic immune-medicated demyelinating polyneuropathy. Neurol. 2007;68:1622-9. doi: 10.1212/01.wnl.0000260972.07422.ea. PubMed PMID:117485651.
6. Creange A, Careyron A; French CIDP Study Group. The diagnosis of chronic demyelinating polyneuropathy: a Delphi-method approach. J Neurol. 2013;260:3015-22. doi: 10.1007/s00415-013-7100-2. PubMed PMID: 24052115.
7. Neligan A, Reilly MM, Lunn MP. CIDP: mimics and chameleons. Pract Neurol. 2014; 14:399-408. doi: 10.1136/practneurol-2014-00083. PubMed PMID: 25035142.
8. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016; 387(10038):2641-54. doi: 10.1016/S0140-6736(15)01274-X. PubMed PMID 26719234.
9. Jacobson DR, Buxbaum JN. Genetic aspects of amyloidosis. Adv Hum Gen. 1991; 20:69-123, 309-11. doi: 10.1007/978-1-4684-5958-6_2. PubMed PMID: 1839349.
10. Planté-Bordeneuve. Update in diagnosis and management of transthyretin familial polyneuropathy. J Neurol. 2014; 261:1227-1233. doi: 10.1007/s00415-014-7373-0. PubMed PMID: 24888313.
11. Planté-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurol. 2007; 69(7):693-8. doi: 10.1212/01.wnl.0000267338.45673.f4. PubMed PMID: 17698792.
12. Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurol. 2012; 79(8):785-792. doi: 10.1212/WNL.0b013e3182661eb1. PubMed PMID: 22843282.
13. Berk JL, Suhr OB, Obici L. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013; 310(24):2658-2667. doi: 10.1001/jama.2013.283815. PubMed PMID: 24368466.
14. Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):22-31. doi: 10.1056/NEJMoa1716793. PubMed PMID: 29972757.
15. Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang CC, Ueda M, Kristen AV, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Eng J Med. 2018;379(1):11-21. doi: 10.1056/NEJMoa1716153. PubMed PMID: 29972753.
16. Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA,Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. Epub 2020 Jan 6. doi: 10.1007/s00415-019-09688-0. PubMed PMID: 31907599.
17. Eftimov F, Vermeulen M, van Doorn PA, Brusse E, van Schaik IN; PREDICT. Long-term remission of CIDP after pulsed dexamethasone or short-term prednisolone treatment. Neurol. 2012;78(14):1079-84. doi: 10.1212/WNL.0b013e31824e8f84. PubMed PMID: 22442436.
18. Franssen H, Vermeulen M, and Jennekens FG: Chronic inflammatory neuropathies. In Emery AEH (eds): Diagnostic criteria for neuromuscular disorders, 2nd edn. London: Royal Society of Medicine Press. 1997;53-59.
19. Allen JA, Lewis RA. CIDP diagnostic pitfalls and perception of treatment benefit. Neurol. 2015;85(6):498-504. doi: 10.1212/WNL.0000000000001833. PubMed PMID: 26180143.
20. Bokhari S, Castaño A, Pozniakoff T, Deslisle S, Latif F, Maurer MS. (99)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging. 2013;6(2):195-201. doi: 10.1161/CIRCIMAGING.112.000132. PubMed PMID: 23400849.
21. Lunn MPT, Willison HJ. Diagnosis and treatment of inflammatory neuropathies. J Neurol Neurosurg Psychiatry.2009;80(3):249-58. doi: 10.1136/jnnp.2008.158303. PubMed PMID: 19228670.
22. Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurol. 2018; 91(2):e143-52. doi: 10.1212/WNL.0000000000005777. PubMed PMID: 29907605.
23. Gertz MA, Benson MD, Dyck PJ, Grogan M, Coelho T, Cruz M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015; 66(21):2451-66. doi: 10.1016/j.jacc.2015.09.075. PubMed PMID: 26610878.
24. Sattianayagam PT, Hahn, AF, Whelan, C, Gibbs SD, Pinney JH, Stangou AJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012; 33(9):1120-1127. doi: 0.1093/eurheartj/ehr383. PubMed PMID: 21992998.
25. Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015; 22(2):123-31. doi: 10.3109/13506129.2015. PubMed PMID: 26017327.
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2020-07-17
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Copyright (c) 2020 Amanda Thuringer, Omar Jawdat, Mazen Dimachkie
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Thuringer, A., Jawdat, O., & Dimachkie, M. (2020). Transthyretin Familial Amyloid Polyneuropathy Mimicking Chronic Inflammatory Demyelinating Polyneuropathy: Familial Amyloid Polyneuropathy Case Report. RRNMF Neuromuscular Journal, 1(3), 26-31. https://doi.org/10.17161/rrnmf.v1i3.13677
