University Heart Center, University Hospital Zurich, Zurich, Switzerland.
Cardiovascular Center Aalst, OLV Clinic, Aalst, Belgium; Experimental Pharmacology, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium.
Swiss Med Wkly. 2024 Feb 15;154:3485. doi: 10.57187/s.3485.
Systemic amyloidoses are rare protein-folding diseases with heterogeneous, often nonspecific clinical presentations. To better understand systemic amyloidoses and to apply state-of-the-art diagnostic pathways and treatment, the interdisciplinary Amyloidosis Network was founded in 2013 at University Hospital Zurich. In this respect, a registry was implemented to study the characteristics and life expectancy of patients with amyloidosis within the area covered by the network. Patient data were collected retrospectively for the period 2005-2014 and prospectively from 2015 onwards.
Patients aged 18 years or older diagnosed with any subtype of systemic amyloidosis were eligible for inclusion if they were treated in one of the four referring centres (Zurich, Chur, St Gallen, Bellinzona). Baseline data were captured at the time of diagnosis. Follow-up data were assessed half-yearly for the first two years, then annually.
Between January 2005 and March 2020, 247 patients were screened, and 155 patients with confirmed systemic amyloidosis were included in the present analysis. The most common amyloidosis type was light-chain (49.7%, n = 77), followed by transthyretin amyloidosis (40%, n = 62) and amyloid A amyloidosis (5.2%, n = 8). Most patients (61.9%, n = 96) presented with multiorgan involvement. Nevertheless, single organ involvement was seen in all types of amyloidosis, most commonly in amyloid A amyloidosis (75%, n = 6). The median observation time of the surviving patients was calculated by the reverse Kaplan-Meier method and was 3.29 years (95% confidence interval [CI] 2.33-4.87); it was 4.87 years (95% CI 3.14-7.22) in light-chain amyloidosis patients and 1.85 years (95% CI 1.48-3.66) in transthyretin amyloidosis patients, respectively. The 1-, 3- and 5-year survival rates were 87.0% (95% CI 79.4-95.3%), 68.5% (95% CI 57.4-81.7%) and 66.0% (95% CI 54.6-79.9%) respectively for light-chain amyloidosis patients and 91.2% (95% CI 83.2-99.8%), 77.0% (95% CI 63.4-93.7%) and 50.6% (95% CI 31.8-80.3%) respectively for transthyretin amyloidosis patients. There was no significant difference between the two groups (p = 0.81).
During registry set-up, a more comprehensive work-up of our patients suffering mainly from light-chain amyloidosis and transthyretin amyloidosis was implemented. Survival rates were remarkably high and similar between light-chain amyloidosis and transthyretin amyloidosis, a finding which was noted in similar historic registries of international centres. However, further studies are needed to depict morbidity and mortality as the amyloidosis landscape is changing rapidly.
系统性淀粉样变性是一种罕见的蛋白质折叠疾病，具有异质性，且常无特异性临床表现。为了更好地了解系统性淀粉样变性，并应用最新的诊断途径和治疗方法，2013 年在苏黎世大学医院成立了淀粉样变性网络。为此，建立了一个登记处，以研究网络覆盖范围内淀粉样变性患者的特征和预期寿命。2005 年至 2014 年期间，回顾性收集患者数据，2015 年起前瞻性收集数据。
年龄在 18 岁或以上，经任何类型的系统性淀粉样变性诊断的患者，如果在四个转诊中心（苏黎世、库尔、圣加仑和贝林佐纳）之一接受治疗，则有资格入组。在诊断时采集基线数据。前两年每半年评估一次随访数据，然后每年评估一次。
2005 年 1 月至 2020 年 3 月期间，共有 247 名患者接受了筛查，155 名确诊为系统性淀粉样变性的患者被纳入本分析。最常见的淀粉样变性类型是轻链（49.7%，n=77），其次是转甲状腺素淀粉样变性（40%，n=62）和淀粉样 A 淀粉样变性（5.2%，n=8）。大多数患者（61.9%，n=96）有多个器官受累。然而，所有类型的淀粉样变性都可见单一器官受累，在淀粉样 A 淀粉样变性中最常见（75%，n=6）。根据反向 Kaplan-Meier 法计算了存活患者的中位观察时间，为 3.29 年（95%置信区间[CI]2.33-4.87）；轻链淀粉样变性患者为 4.87 年（95%CI3.14-7.22），转甲状腺素淀粉样变性患者为 1.85 年（95%CI1.48-3.66）。轻链淀粉样变性患者的 1 年、3 年和 5 年生存率分别为 87.0%（95%CI79.4-95.3%）、68.5%（95%CI57.4-81.7%）和 66.0%（95%CI54.6-79.9%），转甲状腺素淀粉样变性患者分别为 91.2%（95%CI83.2-99.8%）、77.0%（95%CI63.4-93.7%）和 50.6%（95%CI31.8-80.3%）。两组之间无显著差异（p=0.81）。
在登记处设立期间，对主要患有轻链淀粉样变性和转甲状腺素淀粉样变性的患者进行了更全面的评估。生存率非常高，轻链淀粉样变性和转甲状腺素淀粉样变性之间的生存率相似，这一发现与国际中心的类似历史登记处一致。然而，需要进一步研究来描述发病率和死亡率，因为淀粉样变性的情况正在迅速变化。
