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The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis
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摘要: 转甲状腺素蛋白心脏淀粉样变(ATTR-CA)是转甲状腺素蛋白(TTR)在心肌间质沉积所致，临床主要表现为心力衰竭和心律失常，严重影响患者的生活质量和生存率。由于该病表现缺乏特异性、既往缺乏无创性确诊手段和有效治疗药物，导致临床上对该病认识不足、误诊率高、诊断延迟。随着无创诊断技术的发展和有效治疗药物的问世，使得该病的诊断和治疗成为可能，因此认识ATTR-CA并建立相应的诊疗流程非常重要。本工作组基于国内外有关ATTR-CA诊断与治疗的研究进展和经验，于2021年制定了符合中国诊疗常规的《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》，在此对该共识要点进行解读，并更新诊断路径，期望能够使中国ATTR-CA患者得到早期诊断与治疗。
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关键词:
- 转甲状腺素蛋白心脏淀粉样变 /
- 转甲状腺素蛋白 /
- 诊断 /
- 治疗
Abstract: Transthyretin cardiac amyloidosis (ATTR-CA) is caused by the deposition of transthyretin(TTR) in the myocardial interstitium. Its clinical manifestations are mainly heart failure and arrhythmia, leading to poor life quality and low survival rate. Diagnosis is often delayed or missed due to the lack of disease awareness, the non-specific clinical symptom presentation of the disease, and inadequacy of non-invasive diagnostic methods and medications in the past. The recent availability of effective treatments makes the early recognition and diagnosis especially critical, because treatment is likely more effective earlier in the disease course. Therefore, it is crucial to establish a diagnosis and treatment strategy to facilitate the rapid and accurate identification of the disease. Based on the advances in research and experiences gained ATTR-CA, our team has developed a consensus on diagnosis and treatment for the disease. In this article, we interpret the key points and present the update of diagnostic process, providing clinicians with an overview of key aspects of ATTR-CA in China.-
Key words:
- transthyretin cardiac amyloidosis /
- transthyretin /
- diagnosis /
- treatment
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图 1 ATTR-CA推荐诊断路径
HFpEF: 射血分数保留的心力衰竭；CA：心脏淀粉样变；ATTR：转甲状腺素蛋白淀粉样变；AL：轻链型淀粉样变性；sFLC：血清游离轻链；sIFE：血免疫固定电泳；99Tcm-PYP：99Tcm-焦磷酸盐；uIFE：尿免疫固定电泳；MGUS：意义不明的单克隆免疫球蛋白血症；EMB：心内膜心肌活检
Figure 1. Recommended ATTR-CA diagnostic pathway
表 1 转甲状腺素蛋白心脏淀粉样变(ATTR-CA)可能性评分*
Table 1. Transthyretin cardiac amyloidosis(ATTR-CA) score
临床指标 指标数 评分(分) 年龄(岁) 60~69 +2 70~79 +3 ≥80 +4 性别 男性 +2 高血压 存在 -1 射血分数 ＜60% +1 左室后壁厚度 ≥12 mm +1 相对室壁厚度 ＞0.57 +2 *该评分系统分数范围为-1~10分，采用6分作为ATTR-CA高危的界值，敏感性为93%，特异性为62% 
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