Peripheral nervous system involvement in systemic amyloidosis
https://doi.org/10.14412/2074-2711-2018-3-12-18
Abstract
Peripheral nervous system involvement may be a main manifestation of systemic amyloidosis or occur in the later stages of the disease in the presence of multiple organ pathology. Focal, multiple mononeuropathy, radiculopathy, polyneuropathy, autonomic nervous system dysfunction, and myopathy develop depending on the localization of amyloid deposits in the peripheral nervous system. The most characteristic symptom in systemic amyloidosis is sensorimotor polyneuropathy accompanied in most cases by the involvement of autonomic nerve fibers in the pathological process. In cases of systemic amyloidosis, peripheral nervous system involvement is progressive, leading to disability, which makes the early diagnosis of the disease and its neurological manifestations and subsequent pathogenetic therapy relevant.
About the Authors
E. I. Safiulina
I.M. Sechenov First Moscow State Medical University (Sechenov University),
Ministry of Health of Russia, Moscow
Russian Federation
Department of Nervous System Diseases and Neurosurgery, Faculty of General Medicine
Russian Federation
Department of Nervous System Diseases and Neurosurgery, Faculty of General Medicine
O. E. Zinovyeva
I.M. Sechenov First Moscow State Medical University (Sechenov University),
Ministry of Health of Russia, Moscow
Russian Federation
Department of Nervous System Diseases and Neurosurgery, Faculty of General Medicine
Russian Federation
Department of Nervous System Diseases and Neurosurgery, Faculty of General Medicine
V. V. Rameev
I.M. Sechenov First Moscow State Medical University (Sechenov University),
Ministry of Health of Russia, Moscow
Russian Federation
Department of Internal Medicine, Occupational Diseases, and Pulmonology, Faculty of Preventive Medicine
Russian Federation
Department of Internal Medicine, Occupational Diseases, and Pulmonology, Faculty of Preventive Medicine
L. V. Kozlovskaya-Lysenko
I.M. Sechenov First Moscow State Medical University (Sechenov University),
Ministry of Health of Russia, Moscow
Russian Federation
Department of Internal Medicine, Occupational Diseases, and Pulmonology, Faculty of Preventive Medicine
Russian Federation
Department of Internal Medicine, Occupational Diseases, and Pulmonology, Faculty of Preventive Medicine
References
1. Рамеев ВВ, Козловская ЛВ, Саркисова ИА. Амилоидоз: вопросы диагностики и лечения. Клиницист. 2006;(4):35-41. [Rameev VV, Kozlovskaya LV, Sarkisova IA. Amyloidosis: diagnosis and treatment. Klinitsist. 2006;(4):35-41. (In Russ.)].
2. Рыжко ВВ, Клодзинский АА, Варламова ЕЮ и др. Сложности диагностики и лечения AL-амилоидоза: обзор литературы и собственные наблюдения. Клиническая онкогематология. Фундаментальные исследования и клиническая практика. 2009;2(1): 47-55. [Ryzhko VV, Klodzinskii AA, Varlamova EYu, et al. Difficulties of diagnosis and treatment of AL-amyloidosis: literature review and own observations. Klinicheskaya onkogematologiya. Fundamental'nye issledovaniya i klinicheskaya praktika. 2009;2(1):47-55. (In Russ.)].
3. Виноградова ОМ. Первичный и генетический варианты амилоидоза. Москва: Медицина; 1980. 224 с. [Vinogradova OM. Pervichnyi i geneticheskii varianty amiloidoza [Primary and genetic variants of amyloidosis]. Moscow: Meditsina; 1980. 224 p.]
4. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016 Jun 25; 387(10038):2641-2654. doi: 10.1016/S0140-6736(15)01274-X. Epub 2015 Dec 21.
5. Glenner GG, Murphy MA. Amyloidosis of the nervous system. J Neurol Sci. 1989 Dec; 94(1-3):1-28.
6. Ikeda S, Yanagisawa N, Hongo M, et al. Vagus nerve and celiac ganglion lesions in generalized amyloidosis: A correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J Neurol Sci. 1987 Jun;79(1-2):129-39.
7. Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016 Feb;29 Suppl 1:S14-26. doi: 10.1097/WCO.0000000000000289.
8. Shin SC, Robinson-Papp J. Amyloid neuropathies. Mt Sinai J Med. 2012 Nov-Dec;79(6): 733-48. doi: 10.1002/msj.21352.
9. Rajkumar SV, Gertz MA, Kyle RA. Prognosis of Patients with Primary Systemic Amyloidosis Who Present with Dominant Neuropathy. Am J Med. 1998 Mar;104(3):232-7.
10. Pearson KT, Vota S. Amyloidosis and its management: Amyloid neuropathies. Curr Probl Cancer. 2016 Sep-Dec;40(5-6):198-208.
11. doi: 10.1016/j.currproblcancer.2016.08.001. Epub 2016 Aug 30.
12. Matsuda M, Gono T, Morita H, et al. Peripheral nerve involvement in primary systemic AL amyloidosis: a clinical and electrophysiological study. Eur J Neurol. 2011 Apr; 18(4):604-10. doi: 10.1111/j.1468-1331.2010. 03215.x. Epub 2010 Sep 23.
13. Козловская Л, Рамеев В. Клинические рекомендации по диагностике и лечению системного амилоидоза (AA, AL). Москва: Научное общество нефрологов России. 2014. C. 4-28. [Kozlovskaya L, Rameev V. Klinicheskie rekomendatsii po diagnostike i lecheniyu sistemnogo amiloidoza (AA, AL) [Clinical guidelines for the diagnosis and treatment of systemic amyloidosis (AA, AL) [Clinical guidelines for the diagnosis and treatment of systemic amyloidosis (AA, AL)]. Moscow: Nauchnoe obshchestvo nefrologov Rossii. 2014. P. 4-28.]
14. Kelly JJ, Kyle RA, O'Brien PC, et al. The natural history of peripheral neuropathy in primary systemic amyloidosis. Ann Neurol. 1979 Jul;6(1):1-7.
15. Traynor AE, Gertz MA, Kyle RA. Cranial neuropathy associated with primary amyloidosis. Ann Neurol. 1991 Apr;29(4):451-4.
16. Gertz MA, Kyle RA. Myopathy in primary systemic amyloidosis. J Neurol Neurosurg Psychiatry. 1996 Jun;60(6):655-60.
17. Chapin JE, Kornfeld M, Harris A. Amyloid myopathy: characteristic features of a still underdiagnosed disease. Muscle Nerve. 2005 Feb;31(2):266-72.
18. Manoli I, Kwan JY, Wang Q, et al. Chronic myopathy due to immunoglobulin light chain amyloidosis. Mol Genet Metab. 2013 Apr;108(4): 249-54. doi: 10.1016/j.ymgme.2013.01.015. Epub 2013 Feb 4.
19. Prayson RA. Amyloid myopathy: clinicopathologic study of 16 cases. Hum Pathol. 1998 May;29(5):463-8.
20. Muchtar E, Derudas D, Mauermann M, et al. Systemic Immunoglobulin Light Chain Amyloidosis-Associated Myopathy: Presentation, Diagnostic Pitfalls, and Outcome. Mayo Clin Proc. 2016 Oct;91(10):1354-1361. doi: 10.1016/j.mayocp.2016.06.027.
21. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):1036-43. doi: 10.1136/jnnp-2014-308724. Epub 2015 Jan 20.
22. Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016 Feb;29 Suppl 1:S27-35.
23. doi: 10.1097/WCO.0000000000000290.
24. Schmidt H, Cruz MW, Botteman MF, et al. Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review. Amyloid. 2017 Mar;24(sup1):111-112. doi: 10.1080/13506129.2017.1292903.
25. Andrade C. A peculiar form of peripheral neuropathy: familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952 Sep;75(3):408-27.
26. Costa PP, Figueira AS, Bravo FR. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A. 1978 Sep;75(9):4499-503.
27. Cruz MW, Schmidt H, Botteman MF, et al. Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases. Amyloid. 2017 Mar;24(sup1):109-110.
28. doi: 10.1080/13506129.2017.1292902.
29. Plantе-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0.
30. Ng Wing Tin S, Plantе-Bordeneuve V, Salhi H, et al. Characterization of Pain in Familial Amyloid Polyneuropathy. J Pain. 2015 Nov;16(11):1106-14. doi: 10.1016/j.jpain.2015.07.010. Epub 2015 Aug 18.
31. Benson MD. The hereditary amyloidoses. Best Pract Res Clin Rheumatol. 2003 Dec;17(6): 909-27.
32. Yamada M, Tsukagoshi H, Hatakeyama S. Skeletal muscle amyloid deposition in AL-(primary or myeloma-associated), AA-(secondary), and prealbumin-type amyloidosis. J Neurol Sci. 1988 Jun;85(2):223-32.
33. Kiuru-Enari S, Somer H, Seppä lä inen AM, et al. Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol. 2002 Jun;61(6):565-71.
34. Babaei-Ghazani A, Eftekharsadat B. Familial amyloid polyneuropathy type IV (finnish) with rapid clinical progression in an Iranian woman: a case report. Iran J Med Sci. 2016 May;41(3):241-4.
35. Chao CC, Huang CM, Chiang HH, et al. Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. Ann Neurol. 2015 Aug;78(2):272-83. doi: 10.1002/ana.24438. Epub 2015 Jul 1.
36. Kollmer J, Sahm F, Hegenbart U, et al. Sural nerve injury in familial amyloid polyneuropathy MR neurography vs clinicopathologic tools. Neurology. 2017 Aug 1;89(5):475-484. doi: 10.1212/WNL.0000000000004178. Epub 2017 Jul 5.
37. Berk JL, Suhr OB, Obici L, et al. Diflunisal Trial C. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013 Dec 25;310(24):2658-67. doi: 10.1001/jama.2013.283815.
Review
For citations:
Safiulina E.I., Zinovyeva O.E., Rameev V.V., Kozlovskaya-Lysenko L.V. Peripheral nervous system involvement in systemic amyloidosis. Neurology, Neuropsychiatry, Psychosomatics. 2018;10(3):12-18. (In Russ.) https://doi.org/10.14412/2074-2711-2018-3-12-18
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