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《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》解读及诊断路径更新

田庄 张抒扬

田庄, 张抒扬. 《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》解读及诊断路径更新[J]. 罕见病研究, 2023, 2(1): 63-69. doi: 10.12376/j.issn.2097-0501.2023.01.009
引用本文: 田庄, 张抒扬. 《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》解读及诊断路径更新[J]. 罕见病研究, 2023, 2(1): 63-69. doi: 10.12376/j.issn.2097-0501.2023.01.009
TIAN Zhuang, ZHANG Shuyang. The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis[J]. Journal of Rare Diseases, 2023, 2(1): 63-69. doi: 10.12376/j.issn.2097-0501.2023.01.009
Citation: TIAN Zhuang, ZHANG Shuyang. The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis[J]. Journal of Rare Diseases, 2023, 2(1): 63-69. doi: 10.12376/j.issn.2097-0501.2023.01.009

《转甲状腺素蛋白心脏淀粉样变诊断与治疗中国专家共识》解读及诊断路径更新

doi: 10.12376/j.issn.2097-0501.2023.01.009
基金项目: 

中国医学科学院医学与健康科技创新工程 2021-I2M-1-003

中央高水平医院临床科研业务费 2022-PUMCH-B-098

详细信息
    通信作者:

    张抒扬,E-mail:shuyangzhang103@163.com

  • 中图分类号: R542.2

The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis

Funding: 

Chinese Academy of Medical Sciences(CAMS) Innovation Fund for Medical Sciences 2021-I2M-1-003

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-098

More Information
  • 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。

     

  • 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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出版历程
  • 收稿日期:  2022-12-07
  • 录用日期:  2022-12-25

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