Characteristics of Patients with Hereditary Transthyretin Amyloid Polyneuropathy and Chronic Idiopathic Axonal Polyneuropathy in Russia: PRIMER Study Results
- 作者: 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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隶属关系:
- 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
- 期: 卷 18, 编号 4 (2024)
- 页面: 12-26
- 栏目: Original articles
- URL: https://journals.rcsi.science/2075-5473/article/view/282500
- DOI: https://doi.org/10.17816/ACEN.1213
- ID: 282500
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详细
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.
作者简介
Natalya Suponeva
Research Center of Neurology
编辑信件的主要联系方式.
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
俄罗斯联邦, MoscowOlga 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
俄罗斯联邦, MoscowFatima 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
俄罗斯联邦, Saint Petersburg; Saint Petersburg; Saint PetersburgTatyana 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
俄罗斯联邦, Kazan; KazanDarya 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
俄罗斯联邦, MoscowMaria Kazieva
Research Center of Neurology
Email: suponeva@neurology.ru
ORCID iD: 0009-0007-5683-0934
neurologist
俄罗斯联邦, MoscowElvira 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
俄罗斯联邦, MoscowAnton Soloviev
AstraZeneca Pharmaceuticals LLC
Email: suponeva@neurology.ru
ORCID iD: 0009-0001-3407-7220
medical advisor
俄罗斯联邦, MoscowEvgenia Zorina
AstraZeneca Pharmaceuticals LLC
Email: suponeva@neurology.ru
ORCID iD: 0009-0004-9283-5714
Head, Therapeutic direction
俄罗斯联邦, Moscow参考
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