西班牙Val142Ile变异型经曲霉素引起的遗传性淀粉样蛋白病

IF 5.9 2区医学 Q2 Medicine

Revista espanola de cardiologia Pub Date : 2025-02-27 DOI:10.1016/j.recesp.2024.12.016

Fernando de Frutos , Lorena Herrador , Belén Peiró-Aventín , Rocío Eiros , Javier Limeres Freire , Esther Zorio , Álvaro Carbayo , Pasqual Llongueras-Espí , Ana García-Álvarez , Tomás Ripoll-Vera , Rosa Macías , Silvia Vilches , Sonia Ruiz-Bustillo , Xabier Arana-Achaga , Jara Gayán Ordás , Jesús Piqueras-Flores , María Ruiz-Cueto , Carlos Casasnovas , Coloma Tirón , Ricard Rojas-García , José González-Costello

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引用次数: 0

摘要

近年来，在没有非洲血统的患者中报道了几例由p.Val142Ile变异引起的遗传性甲状腺转蛋白淀粉样变性（ATTRv）病例。本研究的目的是分析p.Val142Ile在西班牙引起的ATTRv的影响，重点分析其表型特征和种群频率。方法从西班牙的16个中心招募被诊断为p.Val142Ile引起的ATTRv的患者，以及不考虑其表型的携带者。检索随访期间的基线特征和事件。使用西班牙国家DNA银行（N = 3569）和加泰罗尼亚健康数据库（N = 790）的数据评估人群频率。结果共纳入164例患者，先证者75例（45.7%），亲属89例（54.3%）。先证者平均年龄73.9±8.5岁，男性47例（62.7%）。67名先证者（89.3%）报告了欧洲血统，而只有6名（8%）报告了非洲血统。心脏症状是诊断ATTRv最常见的原因（n = 64; 85.3%）。中位随访时间为2.6年[四分位数间距，1.5-4.1]。65岁、75岁和85岁的总外显率分别为12.8%、44.3%和94.2%。38例患者在随访期间开始使用他法非地：治疗1年后，14例患者（38.9%）达到联合终点（12例出现疾病进展，2例死于心血管原因）。根据分别来自西班牙和加泰罗尼亚数据库的数据，人口频率估计在0.0%至0.12%之间。结论由pval142ile引起的sattrv在西班牙有明显的流行。其表型特征为发病晚、男性为主、累及心脏。

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Amiloidosis hereditaria por transtirretina por la variante Val142Ile en España

Introduction and objectives

In recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African ancestry. The aim of this study was to analyze the impact of ATTRv caused by p.Val142Ile in Spain, focusing on its phenotypic characteristics and its population frequency.

Methods

Patients diagnosed with ATTRv caused by p.Val142Ile, as well as carriers irrespective of their phenotype, were recruited from 16 centers in Spain. Baseline characteristics and events during follow-up were retrieved. Population frequency was assessed using data from the Spanish National DNA Bank (N = 3569) and the Catalan Health Databank (N = 790).

Results

The cohort included 164 participants: 75 probands (45.7%) and 89 relatives (54.3%). Among the probands, the mean age was 73.9 ± 8.5 years, and 47 (62.7%) were male. Sixty-seven probands (89.3%) reported European ancestry, while only 6 (8%) reported African ancestry. Cardiac symptoms were the most frequent reason for ATTRv diagnosis (n = 64; 85.3%). The median follow-up was 2.6 years [Interquartile range, 1.5-4.1]. Overall penetrance at ages 65, 75, and 85 years was 12.8%, 44.3%, and 94.2%, respectively. Tafamidis was initiated during follow-up in 38 patients: after 1 year of treatment, 14 patients (38.9%) met the combined endpoint (12 experienced disease progression and 2 died from cardiovascular causes). Population frequency was estimated to range between 0.0% and 0.12%, based on data from the Spanish and Catalan databases, respectively.

Conclusions

ATTRv caused by p.Val142Ile has a significant prevalence in Spain. Its phenotypic features are characterized by late onset, male predominance, and cardiac involvement.

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来源期刊

Revista espanola de cardiologia 医学-心血管系统

CiteScore

4.20

自引率

13.60%

发文量

257

审稿时长

28 days

期刊介绍： Revista Española de Cardiología, Revista bilingüe científica internacional, dedicada a las enfermedades cardiovasculares, es la publicación oficial de la Sociedad Española de Cardiología.