Chatzileontiadou Sofia, Zegkos Thomas, Frouzaki Christina, Apsemidou Athanasia, Efthimiadis Georgios, Parcharidou Despoina, Papaioannou Maria
Hematology Unit, 1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
1st Cardiology Department, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Front Oncol. 2022 Oct 6;12:944503. doi: 10.3389/fonc.2022.944503. eCollection 2022.
Cardiac amyloidosis (CA) represents a myocardial disorder developed by fibril deposition of a heterogeneous group of misfolding proteins. Despite being rare, a high clinical index of suspicion and novel advanced diagnostic methods seem to facilitate its early recognition. Currently nine types of cardiac amyloidosis have been described with AL and ATTR being the most common. Light chain amyloidosis (AL) is a life-threatening disease, resulting from clonal plasma cells that produce amyloidogenic light chain fragments causing organ damage including the heart. Morbidity and mortality of these patients is strongly associated with the severity of cardiac involvement. Thus, early and precise diagnosis is crucial for prompt treatment initiation. In this study, we retrospectively analyzed data of 36 consecutive patients who were diagnosed with AL amyloidosis and treated in our center over the past 15 years. Heart involvement was present in 33 (92%) of them while 76% had severe cardiac disease as of stage IIIa and IIIb, according to the Mayo2004/European staging system. Almost one third of these patients experienced an early death occurring the first five months of diagnosis. To capture everyday clinical practice, we provide details on clinical presentation, diagnostic challenges, and outcome of these patients.
心脏淀粉样变性（CA）是一种由一组异质性错误折叠蛋白的原纤维沉积所引发的心肌疾病。尽管其较为罕见，但较高的临床怀疑指数和新型先进诊断方法似乎有助于早期识别。目前已描述了九种类型的心脏淀粉样变性，其中AL型和ATTR型最为常见。轻链淀粉样变性（AL）是一种危及生命的疾病，由产生淀粉样轻链片段的克隆性浆细胞引起，可导致包括心脏在内的器官损伤。这些患者的发病率和死亡率与心脏受累的严重程度密切相关。因此，早期准确诊断对于及时开始治疗至关重要。在本研究中，我们回顾性分析了过去15年在我们中心诊断为AL淀粉样变性并接受治疗的36例连续患者的数据。根据Mayo2004/欧洲分期系统，其中33例（92%）存在心脏受累，76%患有IIIa期和IIIb期的严重心脏疾病。这些患者中近三分之一在诊断后的前五个月内过早死亡。为了反映日常临床实践情况，我们提供了这些患者的临床表现、诊断挑战及治疗结果的详细信息。
