AL淀粉样变性心肌病诊治进展

Research progress on diagnosis and treatment of immunoglobulin light-chain(AL) cardiac amyloidosis

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诊治水平。

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.