Mankad Anit K, Sesay Isata, Shah Keyur B
Division of Cardiology, Hunter Holmes McGuire Veterans Affairs Medical Center, Richmond, Virginia.
The Pauley Heart Center, Virginia Commonwealth University, Richmond, Virginia.
Curr Probl Cancer. 2017 Mar-Apr;41(2):144-156. doi: 10.1016/j.currproblcancer.2016.11.004. Epub 2016 Nov 17.
Cardiac amyloidosis is an underrecognized condition, in which delays to diagnosis have great implications on management options, prognosis, and morbidity. Once cardiac tissue is infiltrated by amyloid fibrils, there is a cascade of pathologic changes that can display an array of clinical manifestations, from impaired relaxation of the ventricular myocardium to severe restrictive disease or even progressive systolic heart failure. Management is guided not only by recognizing the subtype of amyloidosis (primary, hereditary, and wild-type transthyretin amyloidosis), but also the clinical stage of the disease. It is important for those managing such patients to understand and differentiate disease associated with fibrils composed of transthyretin vs light-chain proteins. Kappa- and lambda-light chains of primary amyloidosis are particularly toxic to myocytes, leading to accelerated clinical illness in the face of intolerance to treatment and poor survival. Limitations to treatment of primary cardiac amyloidosis are related to multiorgan dysfunction and the inability to tolerate appropriate chemotherapy. Bortezomib, a selective protease inhibitor, has been shown to be and an effective and tolerable option for those with myocardial amyloid infiltration. Standard goal-directed optimal medical management for cardiomyopathy (such as beta-blockers and ace inhibitors) does not offer a survival benefit with cardiac amyloidosis, and often is associated with adverse effects. Despite advances in treatment of advanced heart failure therapy, end-stage cardiomyopathy in the setting of amyloidosis is not well stabilized by inotropes or mechanical circulatory support, and offers restricted candidacy for heart transplantation. We review the salient features of cardiac amyloidosis to help general practitioners and subspecialists manage this unique clinical condition.
心脏淀粉样变性是一种未被充分认识的疾病,诊断延迟对治疗方案、预后和发病率有重大影响。一旦心脏组织被淀粉样纤维浸润,就会引发一系列病理变化,可表现出一系列临床表现,从心室心肌舒张功能受损到严重的限制性疾病,甚至进展为收缩性心力衰竭。治疗不仅要依据识别淀粉样变性的亚型(原发性、遗传性和野生型转甲状腺素蛋白淀粉样变性),还要依据疾病的临床阶段。对于管理此类患者的人员而言,了解并区分与由转甲状腺素蛋白和轻链蛋白组成的纤维相关的疾病非常重要。原发性淀粉样变性的κ和λ轻链对心肌细胞具有特别的毒性,导致在治疗不耐受和生存不佳的情况下临床病情加速发展。原发性心脏淀粉样变性治疗的局限性与多器官功能障碍以及无法耐受适当的化疗有关。硼替佐米,一种选择性蛋白酶抑制剂,已被证明对于心肌淀粉样浸润患者是一种有效且可耐受的选择。针对心肌病的标准目标导向的最佳药物治疗(如β受体阻滞剂和血管紧张素转换酶抑制剂)对心脏淀粉样变性患者并无生存益处,且常伴有不良反应。尽管晚期心力衰竭治疗取得了进展,但在淀粉样变性背景下的终末期心肌病通过强心剂或机械循环支持并不能很好地稳定病情,且心脏移植的候选资格受限。我们回顾心脏淀粉样变性的显著特征,以帮助全科医生和专科医生管理这一独特的临床病症。