Until recently, systemic amyloidoses were regarded as ineluctably disabling and life‐threatening diseases. However, this field has witnessed major advances in the last decade, with significant improvements in therapeutic options and in the availability of accurate and non‐invasive diagnostic tools. Outstanding progress includes unprecedented hematological response rates provided by risk‐adapted regimens in light chain (AL) amyloidosis and the approval of innovative pharmacological agents for both hereditary and wild‐type transthyretin amyloidosis (ATTR). Moreover, the incidence of secondary (AA) amyloidosis has continuously reduced, reflecting advances in therapeutics and overall management of several chronic inflammatory diseases. The identification and validation of novel therapeutic targets has grounded on a better knowledge of key molecular events underlying protein misfolding and aggregation and on the increasing availability of diagnostic, prognostic and predictive markers of organ damage and response to treatment. In this review, we focus on these recent advancements and discuss how they are translating into improved outcomes. Neurological involvement dominates the clinical picture in transthyretin and gelsolin inherited amyloidosis and has a significant impact on disease course and management in all patients. Neurologists, therefore, play a major role in improving patients' journey to diagnosis and in providing early access to treatment in order to prevent significant disability and extend survival.

中文翻译：

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获得性和遗传性淀粉样变性：知识驱动患者的护理。

直到最近，全身性淀粉样糖仍被认为是致死性和致命性疾病。但是，在过去的十年中，该领域取得了重大进展，治疗选择以及准确无创的诊断工具的可用性有了显着改善。杰出的进展包括适应风险的轻链（AL）淀粉样变性病方案所提供的空前的血液学响应率，以及对遗传性和野生型运甲状腺素蛋白淀粉样变性病（ATTR）的创新药物的认可。此外，继发性（AA）淀粉样变性病的发病率不断降低，这反映了几种慢性炎症性疾病的治疗和整体管理的进步。新型治疗靶标的鉴定和验证是基于对蛋白质错误折叠和聚集的关键分子事件的更好了解，以及器官损伤和对治疗反应的诊断，预后和预测性标志物可用性的提高。在这篇综述中，我们重点关注这些最新进展，并讨论它们如何转化为改善的结果。神经疾病在运甲状腺素蛋白和凝溶胶蛋白遗传的淀粉样变性中占主导地位，并且对所有患者的病程和治疗都有重要影响。因此，神经科医师在改善患者的诊断过程以及提供早期治疗以预防重大残疾和延长生存率方面发挥着重要作用。