Abstract

Background

Hereditary transthyretin (ATTRv) amyloidosis is a progressive multisystemic disease of adult-onset that arises from an inherited mutation in the transthyretin gene. Currently available disease severity and progression evaluation tools only cover one single organ or system, impacting data collection uniformity and its use in clinical settings.

Methods

The Jandhyala Method, including a systematic literature review and SMART interviews, was used to observe expert opinion from eight leaders in the treatment of ATTRv across Europe. The aim was to propose a multidisciplinary core dataset (CD) and disease severity scoring (DSS) tools.

Results

The multidisciplinary team of experts identified 140 indicators that form part of the standard diagnostic and monitoring practice (SDMP) and should be collected as the ATTRv CD. Thirty-one (22%) of these indicators informed disease severity and comprised the ATTRv DSS, whilst 25 (18%) were deemed to monitor disease progression.

Conclusions

The resulting CD and DSS have different purposes. The ATTRv CD supports the collection of high-quality data for clinical research, whereas the ATTRv DSS can be rapidly conducted in a clinical setting and aid patient management.

中文翻译：

---

遗传性转甲状腺素蛋白 (ATTRv) 淀粉样变性的简单核心数据集和疾病严重程度评分

摘要

背景

遗传性转甲状腺素蛋白 (ATTRv) 淀粉样变性是一种成人发病的进行性多系统疾病，由转甲状腺素蛋白基因的遗传突变引起。目前可用的疾病严重程度和进展评估工具仅涵盖一个器官或系统，影响数据收集的一致性及其在临床环境中的使用。

方法

Jandhyala 方法，包括系统的文献回顾和 SMART 访谈，用于观察欧洲八位领导者治疗 ATTRv 的专家意见。目的是提出一个多学科核心数据集 (CD) 和疾病严重程度评分 (DSS) 工具。

结果

多学科专家团队确定了 140 个指标，这些指标构成标准诊断和监测实践 (SDMP) 的一部分，应作为 ATTRv CD 收集。这些指标中的 31 个 (22%) 告知疾病严重程度并包含 ATTRv DSS，而 25 个 (18%) 被认为是监测疾病进展。

结论

生成的 CD 和 DSS 有不同的用途。ATTRv CD 支持为临床研究收集高质量数据，而 ATTRv DSS 可以在临床环境中快速进行并帮助患者管理。