冯世栋 王妍 张明 孙世仁

【摘要】免疫球蛋白轻链（AL）淀粉样变性心肌病是由AL异常折叠形成淀粉样蛋白沉积于心脏，造成心脏结构异常和功能下降。AL淀粉样变性心肌病是淀粉样变性心肌病最主要的亚型，其起病隐匿、临床表现多样、易误诊漏诊、导致诊治延迟，患者错失最佳治疗时机、病死率高，受到临床广泛关注。随着现有医疗诊断技术的不断进步，其早期诊断率明显提高，早期诊治可明显改善患者预后，提高患者生存质量，降低病死率。该文将在临床表现、影像学检查、实验室检查、组织特殊病理检查、系统化治疗多个方面概述AL淀粉样变性心肌病诊治进展，旨在提高AL淀粉样变性心肌病的診治水平。

【关键词】淀粉样变性;心肌病;诊断;治疗

【Abstract】Immunoglobulin light-chain （AL） cardiac amyloidosis is a protein misfolding disease in which AL misfording forms amyloid proteins deposited in the heart， leading to cardiac structural abnormality and functional decline. AL cardiac amyloidosis is the most common subtype of cardiac amyloidosis. The onset of cardiac amyloidosis is obscure with diverse clinical manifestations， resulting in a high misdiagnosis rate and missed diagnosis rate. Delayed diagnosis and treatment can cause a high mortality rate， which captivates widespread attention from clinicians. As the existing diagnostic and therapeutic techniques persistently advance， the early diagnostic rate has been significantly enhanced. Early diagnosis and treatment can considerably improve the clinical prognosis and quality of life and lower the mortality rate of patients with cardiac amyloidosis. In this review， the research progress on the diagnosis and treatment of AL cardiac amyloidosis were systemically summarized from the perspectives of clinical manifestations， imaging， laboratory and histopathological examinations， aiming to elevate the diagnosis and treatment of AL cardiac amyloidosis.

【Key words】Amyloidosis;Cardiomyopathy;Diagnosis;Treatment

异常浆细胞生成错误折叠的淀粉样蛋白沉积心脏导致心脏结构和功能异常改变，称为淀粉样变性心肌病，免疫球蛋白轻链 （AL）淀粉样蛋白沉积在心脏引起AL淀粉样变性心肌病，AL淀粉样蛋白导致约90%患者有心脏损害，其中约50%为单独心脏损害。其起病隐匿，早期无典型临床症状，往往导致诊断困难，错失最佳治疗时机，AL淀粉样变性心肌病患者如出现心力衰竭，中位生存期则只有3.5个月[1]。近年来对其研究进展不断深入，诊治方法不断完善，以及新生物标志物出现，使其诊治及预后大为改观，患者生存率明显升高。

一、AL淀粉样变性心肌病的临床症状

该病患者早期无典型临床症状，但是通过对患者非特异多样化临床表现综合分析，早期明确诊断并不困难。……