野生型转甲状腺素介导(ATTRwt)淀粉样变的诊断之旅:多系统参与的途径

Chafic Karam, Colleen Moffitt, Catherine Summers, Madeline P Merkel, Fran M Kochman, Laure Weijers, Mathilde Puls, Marieke Schurer, Emily Jones, Nicola Mason, Muriel Finkel, Paula Schmitt, Mazen Hanna
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引用次数: 0

摘要

背景:野生型和遗传性转甲状腺素介导淀粉样变性(分别为ATTRwt和ATTRv淀粉样变性)是一种进行性、致命性疾病,具有广泛的临床表现和多系统效应。尽管有较高的患病率,但由于其非遗传性,ATTRwt淀粉样变的特征较少,并且其相对较差的疾病意识延迟了诊断。近年来,人们对其自然历史的了解有所发展,但这主要是基于医生收集的数据,而不是患者自己的经验报告。结果:采用混合方法,我们首先进行了一项美国调查,以探索attrt淀粉样变患者的病程与ATTRv淀粉样变患者的病程有何不同。结果显示,患有这两种疾病的患者都有很高的疾病负担,患有attrt的患者在最终诊断之前报告了更多的诊断和手术。通过对ATTRwt淀粉样变患者的进一步深入访谈,我们提供了患者的直接引用,说明了他们通常通过与多名医生和专家的互动来诊断的途径,以及早期诊断的机会。结论:我们的研究提供了对患者生活质量的整体影响的见解,并展示了如何提高对ATTRwt淀粉样变的认识和与医生更协调的接触可以减少诊断时间。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement
Abstract Background: Wild-type and hereditary transthyretin-mediated amyloidosis (ATTRwt and ATTRv amyloidosis, respectively) are progressive, fatal diseases with a broad range of clinical presentations and multisystem effects. Despite having a higher prevalence, ATTRwt amyloidosis is less well characterized due to its non-hereditary nature, and its relatively poorer disease awareness delays diagnosis. Understanding of its natural history has evolved in recent years, but this is largely based on physician-collected data rather than patients’ reports of their own experiences. Results: Using a mixed-methods approach, we first conducted a US-based survey to explore how the journey of patients with ATTRwt amyloidosis differs from that of patients with ATTRv amyloidosis. The results revealed a high disease burden for patients with both conditions, with patients with ATTRwt reporting more diagnoses and procedures prior to their final diagnosis. Through further in-depth interviews with participants with ATTRwt amyloidosis, we present direct quotes from patients illustrating the paths they often take to diagnosis, through interactions with multiple physicians and specialists, and the opportunities for earlier diagnosis. Conclusions: Our study provides insight into the overall impact of the patient journey on their quality of life and demonstrates how increased awareness of ATTRwt amyloidosis and more coordinated engagement with physicians could reduce the time to diagnosis.
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