Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy.
Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Eur J Heart Fail. 2021 Feb;23(2):217-230. doi: 10.1002/ejhf.2113. Epub 2021 Feb 21.
Amyloidoses are characterized by the tissue accumulation of misfolded proteins into insoluble fibrils. The two most common types of systemic amyloidosis result from the deposition of immunoglobulin light chains (AL) and wild-type or variant transthyretin (ATTRwt/ATTRv). Cardiac involvement is the main determinant of outcome in both AL and ATTR, and cardiac amyloidosis (CA) is increasingly recognized as a cause of heart failure. In CA, circulating biomarkers are important diagnostic tools, allow to refine risk stratification at baseline and during follow-up, help to tailor the therapeutic strategy and monitor the response to treatment. Among amyloid precursors, free light chains are established biomarkers in AL amyloidosis, while the plasma transthyretin assay is currently being investigated as a tool for supporting the diagnosis of ATTRv amyloidosis, predicting outcome and monitor response to novel tetramer stabilizers or small interfering RNA drugs in ATTR CA. Natriuretic peptides (NPs) and troponins are consistently elevated in patients with AL and ATTR CA. Plasma NPs, troponins and free light chains hold prognostic significance in AL amyloidosis, and are evaluated for therapy decision-making and follow-up, while the value of NPs and troponins in ATTR is less well established. Biomarkers can be usefully integrated with clinical and imaging variables at all levels of the clinical algorithm of systemic amyloidosis, from screening to diagnosis and prognosis, and treatment tailoring.
淀粉样变的特征是组织中错误折叠的蛋白质积累成不溶性纤维。两种最常见的系统性淀粉样变是由免疫球蛋白轻链（AL）和野生型或变异转甲状腺素蛋白（ATTRwt/ATTRv）沉积引起的。心脏受累是 AL 和 ATTR 的主要预后决定因素，心脏淀粉样变（CA）越来越被认为是心力衰竭的原因。在 CA 中，循环生物标志物是重要的诊断工具，可在基线和随访期间精细分层风险，有助于制定治疗策略并监测对治疗的反应。在淀粉样前体中，游离轻链是 AL 淀粉样变的既定生物标志物，而血浆转甲状腺素蛋白测定目前正被作为支持 ATTRv 淀粉样变诊断、预测预后和监测新型四聚体稳定剂或小干扰 RNA 药物在 ATTR CA 中的反应的工具进行研究。利钠肽（NPs）和肌钙蛋白在 AL 和 ATTR CA 患者中均升高。血浆 NPs、肌钙蛋白和游离轻链在 AL 淀粉样变中具有预后意义，并用于治疗决策和随访，而 NPs 和肌钙蛋白在 ATTR 中的价值尚未得到充分确立。生物标志物可与临床和影像学变量在系统性淀粉样变的临床算法的各个层面上进行有效整合，从筛查到诊断和预后，以及治疗调整。
