Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

IF 5.2 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Amyloid-Journal of Protein Folding Disorders Pub Date : 2024-03-01 Epub Date: 2023-10-19 DOI:10.1080/13506129.2023.2270661

Guillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, Juliette Svahn, Jean-Philippe Camdessanché, Pascal Cintas, Jean-Baptiste Chanson, Florence Esselin, Céline Piedvache, Céline Verstuyft, Steeve Genestet, Emmeline Lagrange, Laurent Magy, Yann Péréon, Sabrina Sacconi, Aissatou Signate, Aleksandra Nadaj-Pakleza, Frédéric Taithe, Karine Viala, Céline Tard, Vianney Poinsignon, Cécile Cauquil, Shahram Attarian, David Adams

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Abstract

Background: Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available.

Methods: In this 5 year-long (2017-2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy.

Results: 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p = .007), significant weight loss (33 vs 11%, p = .024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p = .03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives.

Conclusion: In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments.

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中老年特发性多发性神经病患者的遗传性甲状腺淀粉样变性：一项全国性前瞻性研究。

背景：遗传性转甲状腺素淀粉样变性（ATTRv）是一种由TTR基因致病性变异引起的成人常染色体显性遗传病。ATTRv通常表现为进行性多发性神经病，有效的ATTRv治疗是可用的。方法：在这5 为期一年（2017-2021）的全国性前瞻性研究，我们系统分析了50岁以上法国患者的TTR基因患有进行性特发性多发性神经病多年。结果：553名患者（70%为男性），平均年龄为70岁年。在15例患者（2.7%）中发现了TTR基因致病性变异，其中10例患者中发现了Val30Met TTR变异。与没有TTR基因致病性变异的患者相比（n = 538），TTR致病性变体患者更常出现直立性低血压（53%对21%，p = .007），显著减轻体重（33%对11%，p = .024）和快速恶化的神经传导研究（26对8%，p = .03）。ATTRv的诊断导致11例淀粉样心肌病的诊断，所有病例的ATTRv特异性治疗，以及在亲属中发现的另外15例ATTRv病例。结论：在这项全国性前瞻性研究中，我们发现年龄＞50岁的患者中有2.7%患有ATTRv 患有进行性多发性神经病多年。这些结果对于早期识别需要疾病改良治疗的患者非常重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学

CiteScore

10.60

自引率

10.90%

发文量

审稿时长

6-12 weeks

期刊介绍： Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.