Characteristics of Patients with Hereditary Transthyretin Amyloid Polyneuropathy and Chronic Idiopathic Axonal Polyneuropathy in Russia: PRIMER Study Results
- Authors: Suponeva N.A.1, Zinovieva O.E.2, Stuchevskaya F.R.3,4,5, Sakovets T.G.6,7, Grishina D.A.1, Kazieva M.S.1, Safiulina E.I.2, Soloviev A.P.8, Zorina E.A.8
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Affiliations:
- Research Center of Neurology
- I.M. Sechenov First Moscow State Medical University (Sechenov University)
- Medical Center “Reavita Med SPb”
- City Multidisciplinary Hospital No. 2
- First Pavlov State Medical University of St. Petersburg
- Republican Clinical Hospital
- Kazan State Medical University
- AstraZeneca Pharmaceuticals LLC
- Issue: Vol 18, No 4 (2024)
- Pages: 12-26
- Section: Original articles
- URL: https://ogarev-online.ru/2075-5473/article/view/282500
- DOI: https://doi.org/10.17816/ACEN.1213
- ID: 282500
Cite item
Abstract
Introduction. Hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) is a severe progressive hereditary disease. Even with the availability of genetic testing for transthyretin (TTR) gene variants, timely hATTR-PN diagnosis remains challenging due to a great variability in its clinical presentation. Patients with hATTR-PN are often misdiagnosed with chronic idiopathic axonal polyneuropathy (CIAP).
The objective of our study is to describe the baseline electrophysiological, clinical, and demographic characteristics of hATTR-PN and CIAP patients and to establish patients' pre-selection criteria for genetic testing.
Materials and methods. Retrospective analysis was performed in 42 hATTR-PN patients and 58 CIAP patients (according to diagnosis defined in medical records from 1 January 2017 to 1 March 2024). Demographic, clinical, and electrophysiological data were collected at diagnosis. To identify factors influencing the likelihood of the hATTR-PN presence, a logistic regression model including clinically relevant variables was developed.
Results. The mean age of hATTR-PN and CIAP patients was 57.7 and 60.9 years, respectively. As compared with CIAP patients, those with hATTR-PN more frequently exhibited gait disturbances (64.3% vs 37.9%), autonomic (47.6% vs 12.1%), cardiac (35.7% vs 10.3%) and gastrointestinal symptoms (64.3% vs 12.1%), unintentional weight loss (45.2% vs 12.1%), and heart failure with preserved ejection fraction (26.2% vs 6.9%). Peripheral nerve conduction scores were also lower in the hATTR-PN group. In predicting hATTR-PN, the logistic regression model had a sensitivity of 91% and a specificity of 97%.
Conclusion. Demographic, clinical, and electrophysiological characteristics of patients with hATTR-PN and CIAP were described. Based on the screening data, it is feasible to predict hATTR-PN in CIAP patients with relatively high accuracy, sensitivity, and specificity.
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##article.viewOnOriginalSite##About the authors
Natalya A. Suponeva
Research Center of Neurology
Author for correspondence.
Email: suponeva@neurology.ru
ORCID iD: 0000-0003-3956-6362
Dr. Sci. (Med.), Corresponding Member of RAS, Director of the Institute of Neurorehabilitation and Restorative Technologies
Russian Federation, MoscowOlga E. Zinovieva
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Email: suponeva@neurology.ru
ORCID iD: 0000-0001-5937-9463
Dr. Sci. (Med.), Professor, Department of nervous system diseases and neurosurgery, N.V. Sklifosovsky Institute of Clinical Medicine
Russian Federation, MoscowFatima R. Stuchevskaya
Medical Center “Reavita Med SPb”; City Multidisciplinary Hospital No. 2; First Pavlov State Medical University of St. Petersburg
Email: suponeva@neurology.ru
ORCID iD: 0000-0003-3181-4229
Cand. Sci. (Med.), Associate Professor, Neurology department, neurologist, Head, Neurological department No. 3
Russian Federation, Saint Petersburg; Saint Petersburg; Saint PetersburgTatyana G. Sakovets
Republican Clinical Hospital; Kazan State Medical University
Email: suponeva@neurology.ru
ORCID iD: 0000-0002-0713-9836
Cand. Sci. (Med.), Associate Professor, Neurology and rehabilitation department, neurologist
Russian Federation, Kazan; KazanDarya A. Grishina
Research Center of Neurology
Email: suponeva@neurology.ru
ORCID iD: 0000-0002-7924-3405
Cand. Sci. (Med.), Head, Center for Peripheral Nervous System Diseases, Institute of Clinical and Preventive Neurology
Russian Federation, MoscowMaria S. Kazieva
Research Center of Neurology
Email: suponeva@neurology.ru
ORCID iD: 0009-0007-5683-0934
neurologist
Russian Federation, MoscowElvira I. Safiulina
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Email: suponeva@neurology.ru
ORCID iD: 0000-0002-1233-7626
Cand. Sci. (Med.), neurologist
Russian Federation, MoscowAnton P. Soloviev
AstraZeneca Pharmaceuticals LLC
Email: suponeva@neurology.ru
ORCID iD: 0009-0001-3407-7220
medical advisor
Russian Federation, MoscowEvgenia A. Zorina
AstraZeneca Pharmaceuticals LLC
Email: suponeva@neurology.ru
ORCID iD: 0009-0004-9283-5714
Head, Therapeutic direction
Russian Federation, MoscowReferences
- Luigetti M., Romano A., Di Paolantonio A. et al. Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care. Ther. Clin. Risk Manag. 2020;16:109–123. doi: 10.2147/TCRM.S219979
- Адян Т.А., Поляков А.В. Наследственный транстиретиновый амилоидоз. Нервно-мышечные болезни. 2019;9(4):12–25. Adyan T.A., Polyakov A.V. Hereditary transthyretin amyloidosis. Neuromuscular Diseases. 2019;9(4):12–25. doi: 10.17650/2222-8721-2019-9-4-12-25
- Rowczenio D.M., Noor I., Gillmore J.D. et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum. Mutat. 2014;35(9):E2403–E2412. doi: 10.1002/humu.22619
- Adams D., Koike H., Slama M., Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat. Rev. Neurol. 2019;15(7):387–404. doi: 10.1038/s41582-019-0210-4
- Adams D., Ando Y., Beirão J.M. et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J. Neurol. 2021;268(6):2109–2122. doi: 10.1007/s00415-019-09688-0
- Vélez-Santamaría V., Nedkova-Hristova V., Morales de la Prida M., Casasnovas C. Hereditary transthyretin amyloidosis with polyneuropathy: monitoring and management. Int. J. Gen. Med. 2022;15:8677–8684. doi: 10.2147/IJGM.S338430
- Planté-Bordeneuve V., Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086–1097. doi: 10.1016/S1474-4422(11)70246-0
- Schmidt H., Cruz M.W., Botteman M.F. et al. Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review. Amyloid. 2017;24(sup1):111–112. doi: 10.1080/13506129.2017.1292903
- Schmidt H.H., Waddington-Cruz M., Botteman M.F. et al. Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2018;57(5):829–837. doi: 10.1002/mus.26034
- Gertz M., Adams D., Ando Y. et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam. Pract. 2020;21(1):198. doi: 10.1186/s12875-020-01252-4
- Conceição I., González-Duarte A., Obici L. et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J. Peripher. Nerv. Syst. 2016;21(1):5–9. doi: 10.1111/jns.12153
- Hanewinckel R., van Oijen M., Ikram M.A., van Doorn P.A. The epidemiology and risk factors of chronic polyneuropathy. Eur. J. Epidemiol. 2016;31(1):5–20. doi: 10.1007/s10654-015-0094-6
- Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther. Adv. Neurol. Disord. 2013;6(2):129–139. doi: 10.1177/1756285612470192
- Супонева Н.А., Юсупова Д.Г., Жирова Е.С. и др. Валидация модифицированной шкалы Рэнкина (the modified Rankin Scale, mRS) в России. Неврология, нейропсихиатрия, психосоматика. 2018;10(4):36–39. Suponeva N.A., Yusupova D.G., Zhirova E.S. et al. Validation of the modified Rankin Scale in Russia. Neurology, Neuropsychiatry, Psychosomatics. 2018;10(4):36–39. doi: 10.14412/2074-2711-2018-4-36-39
- Арестова А.С., Мельник Е.А., Зайцев А.Б. и др. Шкала «Этиология и лечение воспалительной нейропатии» (Inflammatory Neuropathy Cause and Treatment, INCAT) для оценки степени инвалидизации у больных хронической воспалительной демиелинизирующей полинейропатией: лингвокультурная адаптация в России. Нервно-мышечные болезни. 2021;11(4):26–33. Arestova А.S., Melnik Е.А., Zaytsev A.B. et al. Inflammatory Neuropathy Cause and Treatment (INCAT) Scale for the assessment of disability level in patients with chronic inflammatory demyelinating polyneuropathy: linguocultural ratification in Russia. Neuromuscular Diseases. 2021;11(4):26–33. doi: 10.17650/2222-8721-2021-11-4-26-33
- Tozza S., Severi D., Spina E. et al. A compound score to screen patients with hereditary transthyretin amyloidosis. J. Neurol. 2022;269(8):4281–4287. doi: 10.1007/s00415-022-11056-4
- Warendorf J.K., van der Star G.M., Dooijes D. et al. Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy. Neurol. Sci. 2023;44(10):3679–3685. doi: 10.1007/s10072-023-06859-w
- Никитин С.С., Бардаков С.Н., Супонева Н.А. и др. Фенотипическая гетерогенность и особенности диагностики транстиретинового амилоидоза с полинейропатией. Нервно-мышечные болезни. 2021;11(3):12–36. Nikitin S.S., Bardakov S.N., Suponeva N.A. et al. Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy. Neuromuscular Diseases. 2021;11(3):12–36. doi: 10.17650/2222-8721-2021-11-3-12-36
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