老年转甲状腺素蛋白心脏淀粉样变性患者进行基因研究的重要性。
Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis.
机构信息
Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL). Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, España; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, España.
Servicio de Cardiología, Hospital Universitari Arnau de Vilanova. Institut de Recerca Biomédica de Lleida (IRBLleida), Lleida, España.
出版信息
Med Clin (Barc). 2023 Nov 10;161(9):382-385. doi: 10.1016/j.medcli.2023.06.023. Epub 2023 Jul 31.
BACKGROUND AND OBJECTIVE
Cardiac transthyretin amyloidosis (CA-ATTR) is a prevalent disease with age. Genetic study is recommended, even in eldest patients. We aim to analyze the prevalence of hereditary transthyretin amyloidosis (ATTRv) in elderly patients (≥75years) with CA-ATTR and its implications.
PATIENTS AND METHODOLOGY
Retrospective observational study of the cohort of elderly patients with CA-ATTR diagnosed according to the international recommended protocol. We analyze the results of sequencing TTR gene, the differential characteristics and their clinical implications.
RESULTS
Between 2016 and 2022, 130 elderly patients (89% cohort) were diagnosed with CA-ATTR (85% male). In 8 of the 123 patients with a genetic study, a pathogenic variant in TTR was identified (6.5%), initiating specific treatment in 4 subjects (50%). The family study identified another case and 6 asymptomatic carriers. There were no significant differences between baseline characteristics or in clinical events.
CONCLUSIONS
The prevalence of ATTRv in elderly patients with CA-ATTR was 6.5% without observing differential characteristics that allow guiding a selective indication of genetic analysis.
背景与目的
心脏转甲状腺素淀粉样变（CA-ATTR）是一种随年龄增长而普遍发生的疾病。即使是年龄最大的患者，也建议进行基因研究。我们旨在分析老年（≥75 岁）CA-ATTR 患者中遗传性转甲状腺素淀粉样变（ATTRv）的患病率及其意义。
患者与方法
回顾性观察性研究，根据国际推荐的方案对老年 CA-ATTR 患者队列进行诊断。我们分析了 TTR 基因测序的结果，以及它们的鉴别特征及其临床意义。
结果
2016 年至 2022 年间，共诊断出 130 名老年 CA-ATTR 患者（89%为队列）（85%为男性）。在 123 名进行基因研究的患者中，有 8 名发现 TTR 存在致病性变异（6.5%），其中 4 名（50%）开始了特定的治疗。家族研究又发现了另一个病例和 6 个无症状携带者。在基线特征或临床事件方面均无显著差异。
结论
CA-ATTR 老年患者中 ATTRv 的患病率为 6.5%，并未观察到可指导有选择地进行基因分析的鉴别特征。
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