Случай транстиретиновой семейной амилоидной полинейропатии: диагностический поиск

Смирнов А.П., Сердюк А.В., Ковражкина Е.А. Случай транстиретиновой семейной амилоидной полинейропатии: диагностический поиск. Consilium Medicum. 2018; 20 (9): 58–62. DOI: 10.26442/2075-1753_2018.9.58-62

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Smirnov A.P., Serdyuk A.V., Kovrazhkina E.A. The case of transthyretin familial amyloid polyneuropathy: diagnostic search. Consilium Medicum. 2018; 20 (9): 58–62. DOI: 10.26442/2075-1753_2018.9.58-62

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Аннотация

Транстиретиновая семейная амилоидная полинейропатия (ТТР-САП) – редкое наследственное нейродегенеративное заболевание, в основе которого лежит отложение амилоида в периферических нервах, что ведет к аксональной дегенерации. Заболевание проявляется неуклонно прогрессирующей сенсомоторной и автономной полинейропатией. В неэндемичных областях и при отсутствии семейного анамнеза постановка диагноза может быть значительно затруднена и растягиваться на длительное время. Наиболее часто возникают диагностические трудности при дифференциальной диагностике ТТР-САП с хронической воспалительной демиелинизирующей полинейропатией. Представляем случай ТТР-САП у пациентки с генетически подтвержденной мутацией Phe53Leu в гене транстиретина, демонстрирующий диагностический поиск при данном заболевании.

Ключевые слова: транстиретиновая семейная амилоидная полинейропатия, хроническая воспалительная демиелинизирующая полинейропатия, наследственный амилоидоз, дифференциальный диагноз.

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Transthyretin familial amyloid polyneuropathy (TTR-FAP) is rare hereditary degenerative disease. It is based on the deposition of amiloid in the peripheral nerves, which leads to axonal degeneration. The disease is demonstrate steadily progressing sensomotor and autonomic polyneuropathy. In non-endemic regions and in the absence of a family history, the diagnostics is very difficult and it takes a long time. Most often it is difficult to make a differential diagnosis between TTR-FAP and chronic inflammatory demyelinating polyneuropathy. The case of TTR-FAP in a patient with a genetically confirmed mutation Phe53Leu in the gene of transtyretin shows a diagnostic search for a given disease.

Key words: transthyretin familial amyloid polyneuropathy, chronic inflammatory demyelinating polyneuropathy, hereditary amyloidosis, differential diagnosis.

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Список литературы

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38. Berk JL, Suhr OB, Obici L et al., Diflunisal Trial Consortium. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 2013; 310: 2658–67.

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1. Zinov'eva O.E., Safiulina E.I. Transtiretinovaia amiloidnaia polineiropatiia: patogenez, klinicheskie osobennosti, perspektivy lecheniia. Manage pain. 2017; 4: 12–5. [in Russian]
2. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007; 36: 411–23.
3. Sekiijima Y, Kelly JW, Ikeda S. Pathogenesis of therapeutic strategies of ameliorate the transthyretin amyloidoses. Curr Pharm des 2008; 14 (30): 3219–30.
4. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry 2015; 86 (9): 1036–43.
5. Barreiros AP, Galle PR, Otto G. Familial amyloid polyneuropathy. Diq Dis 2013; 31 (1): 170–4.
6. Saraiva MJM, Costa PP, Goodman DS. Studies on plasma transthyretin (prealbumin) in familial amyloidotic polyneuropathy, Portuguese type. Trans Res 1983; 102 (4): 590–603.
7. Plantе-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurology 2011; 10 (12): 1086–97.
8. 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; 24 (1): 109–10.
9. Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007; 274 (7): 1637–50.
10. Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Eng J Med 1997; 337: 898–909.
11. Plante-Bordeneuve V, Ferreira A, Lalu T et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007; 69: 693–8.
12. Adams D, Suhr OB, Hund E et al, European Network for T.-F. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 2016; 29 (Suppl. 1): S14–26.
13. Schmidt H, Cruz MW, Botteman MF et al. Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review. Amyloid 2017; 24 (1): 111–2.
14. Ando Y, Nakamura M, Araki S. Transthyretin-related familiar amyloidic polyneuropathy. Arch Neurol 2005; 62: 1057–62.
15. Ando Y, Coelho T, Berk JL et al. Guideline of transthyretin-related hereditary amyloidodid for clinicals. Orphanet J Rare Dis 2013; 8: 31.
16. Ueda M, Ando Y. Recent anvances in transthyretin amylodosis therapy. Transl Neurodegener 2014; 3: 19.
17. Benson MD et al. Transthyretin amyloidosis. Amyloid 1996; 3: 44–56.
18. Ikeda S, Yanagisawa N, Hongo M, Ito N. Vagus nerve and celiac ganglion lesions in generalized amyloidosis: a correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J Neurol Sci 1987; 79 (1): 129–39.
19. Zinov'eva O.E., Umari D., Solokha O., Iakhno N. Amiloidnaia nevropatiia u patsienta s transtiretinovym semeinym amiloidozom. Nevrol. zhurn. 2016; 5: 305–12. [in Russian]
20. Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord 2013; 119: 129–39.
21. Nakamura M, Yamashita T, Ueda M et al. Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005; 65 (7): 1051–6.
22. Algarrondo V, Dinanian S, Juin C et al. Prophylactic pacemaker implantation in familial amyloid polyneuropathy. Heart Rhythm 2012; 9: 1069–75.
23. Rousseau A, Kaswin G, Adams D et al. Ocular involvement in familial amyloid polyneuropathy. J Fr Ophtalmol 2013; 36: 779–88.
24. Lobato L, Rocha A. Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 2012; 7: 1337–46.
25. Sousa A, Andersson R, Drugge U et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Human heredity 1993; 43 (5): 288–94.
26. Adams D, Lorezon P, Lacroix C. Amyloid neuroparthies. Curr Opin Neurol 2012; 25: 564–72.
27. Adams D, Loreson P, Theaudin M et al., French Network for FAP. Regional difference and similarity of familial amyloid polyneuropathy in France. Amyloid 2012; 19: 61–4.
28. Do AB, Coelho T, Sousa A, Guimaraes A. Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguesse type. Amyloid 2009; 16: 232–8.
29. Westermark P. Subcutaneous adipose tissue biopsy for amyloid protein studies. Methods Mol Biol 2012; 849: 363–71.
30. Kyle RA, Spencer RJ, Dahlin DC. Value of rectal biopsy in the diagnosis of primary systemic amyloidosis. Am J Med Sci 1966; 251: 501–6.
31. Picken MM, Westermark P. Amyloid detection and typing: summary of current practice and recommendations of the consensus group. Amyloid 2011; 18: 48–50.
32. Merlini G, Westermark P. The systemic amyloidoses clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med 2004; 69: 159–78.
33. Holmgren G, Ericzon BG, Groth CG et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidisis. Lancet 1993; 341: 1113–6.
34. Ericzon BG, Wilczek HE, Larsson M et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015; 99: 1847–54.
35. Liepnieks JJ, Benson MD. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantaton. Amyloid 2007; 14: 277–82.
36. Rapezzi C, Perugini E, Salvi F et al. Phenotypic and genotypic heterogeneity in transthyrerin-related cardiac amyloidisis: towards tailoring of therapeutic strategies? Amyloid 2006; 13: 143–53.
37. Coelho T, Maia LF, Martins da SA et al. Tadamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012; 79: 785–92.
38. Berk JL, Suhr OB, Obici L et al., Diflunisal Trial Consortium. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 2013; 310: 2658–67.

Авторы

А.П.Смирнов, А.В.Сердюк, Е.А.Ковражкина*

ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1
*elekov2@yandex.ru

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A.P.Smirnov, A.V.Serdyuk, E.A.Kovrazhkina*

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1
*elekov2@yandex.ru

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