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Critical Management Strategies for Cardiovascular Involvementin Light Chain Amyloidosis
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摘要: 轻链型淀粉样变性(AL)是一类由单克隆免疫球蛋白轻链错误折叠形成淀粉样物质沉积于各个组织器官，造成器官功能障碍的罕见疾病。其累及心脏表现为轻链型心脏淀粉样变(AL-CA)，可引起心力衰竭、心律失常、心肌梗死、瓣膜及心包疾病等。心脏受累程度是对AL患者进行危险分层和预后评价的重要依据。AL-CA患者平均中位生存期为24个月，合并心力衰竭者中位生存期仅6个月。近年来，心脏淀粉样变性诊治技术不断进展，AL靶向治疗获得里程碑式突破，多学科协作诊疗体系不断完善，AL-CA患者的预后得到显著改善。本文将聚焦AL心血管受累，简要阐述AL-CA的致病机制、临床表现及诊治要点。Abstract: Light chain amyloidosis (AL) is a kind of rare disease. The misfolding of the light chain of monoclonal immunoglobulin forms amyloid substances and deposit in different tissues and organs, resulting in organ dysfunction. The heart involvement is represented as light chain cardiac amyloidosis (AL-CA), leading to heart failure, arrhythmia, myocardial infarction, valvular and pericardial diseases. Cardiac involvement is crucial for the risk stratification and prognosis prediction of patients with AL. The median survival time of AL-CA patients is 24 months and only 6 months for the heart failure patients. In recent years, the prognosis of patients with AL-CA has been significantly improved, thanks to the advancement in diagnosis & treatment strategies of cardiac amyloidosis, the milestone in the breakthroughs in targeted therapy of AL, and the improvement of coordinated multidisciplinary treatment. This paper focuses on the cardiovascular involvement of AL and briefly illustrates the pathogenesis, clinical manifestations, and the diagnosis and treatment of AL-CA.
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图 1 心脏淀粉样变诊断分型简要流程
PYP：焦磷酸盐；DPD：二羧基丙烷二磷酸盐；HMDP：亚甲基羟基二膦酸盐；AL-CA：轻链型心脏淀粉样变；ATTR-CA：转甲状腺素蛋白心脏淀粉样变；TTR：转甲状腺素蛋白；ATTRv-CA：变异型转甲状腺素蛋白心脏淀粉样变；ATTRwt-CA：野生型转甲状腺素蛋白心脏淀粉样变
Figure 1. Brief algorithm for the typical diagnosis of cardiac amyloidosis
表 1 轻链型心脏淀粉样变(AL-CA)超声心动图评分
Table 1. Multiparametric echocardiography scores for thediagnosis of light chain cardiac amyloidosis(AL-CA)
超声心动图参数 指标数 评分(分) 相对左室室壁厚度 ＞0.52 +2 二尖瓣处舒张早期血流速度/二尖瓣环处舒张早期运动速度 ＞10 +2 三尖瓣环收缩期位移 ≤19 mm +1 长轴应变 ＞-14% +1 
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