Laires Pedro A, Fang Shona, Evans Jennifer, Thompson Jeffrey, Gaur Abhishek, Staruk Brendon, Gupta Ankita, Manwani Richa
AstraZeneca Rare Disease, Alexion Pharma Spain S.L., Av. Diagonal, 615 6° Planta, 08028, Barcelona, Spain.
NOVA National School of Public Health, Public Health Research Center, Universidade NOVA de Lisboa, Lisbon, Portugal.
Sci Rep. 2025 Jul 11;15(1):25149. doi: 10.1038/s41598-025-09498-7.
Immunoglobulin light chain amyloidosis (AL amyloidosis) is among the most common forms of systemic amyloidosis. Using electronic health records (EHR) data from the United States, we aimed to estimate the incidence and prevalence of AL amyloidosis over time, to evaluate the distribution of different disease stages, and to assess patients' demographic characteristics. We conducted a retrospective cohort study using Optum EHR data from 2016 to 2022. AL amyloidosis was defined by ≥ 2 ICD-10-CM codes or positive mentions in the EHR that were ≥ 30 days apart. Incident and prevalent patients were included. Staging was assessed using cardiac biomarkers (whenever available) according to the European modification of the 2004 Mayo staging system. A total of 1976 AL amyloidosis patients were identified. In 2021, the estimated AL amyloidosis incidence was 16.7 per million person-years in adults, and the prevalence was 69.0 per million adult population. Among patients with staging available near the time of diagnosis (41.7% of incident patients), the following distribution was observed: 16.1% Stage I, 44.5% Stage II, 20.6% Stage IIIa, and 18.8% Stage IIIb. At the most recently available staging assessment, combined Stage IIIa and IIIb was more common among males (38.6% vs. 27.1%) and was more common with increasing age (25.7% for 40-49 years vs. 38.5% for 80+ years). We observed the highest prevalence of AL amyloidosis published to date. This may be due to true increased prevalence, consistent with reports of improved survival in AL amyloidosis.
免疫球蛋白轻链淀粉样变性(AL淀粉样变性)是最常见的系统性淀粉样变性形式之一。利用来自美国的电子健康记录(EHR)数据,我们旨在估计AL淀粉样变性随时间的发病率和患病率,评估不同疾病阶段的分布情况,并评估患者的人口统计学特征。我们使用2016年至2022年的Optum EHR数据进行了一项回顾性队列研究。AL淀粉样变性由≥2个ICD-10-CM编码或EHR中相隔≥30天的阳性记录定义。纳入了新发病例和现患病例。根据2004年梅奥分期系统的欧洲修订版,使用心脏生物标志物(只要有数据)进行分期评估。共识别出1976例AL淀粉样变性患者。2021年,成人中AL淀粉样变性的估计发病率为每百万人年16.7例,患病率为每百万成年人口69.0例。在诊断时附近有分期数据的患者中(占新发病例的41.7%),观察到以下分布情况:I期占16.1%,II期占44.5%,IIIa期占20.6%,IIIb期占18.8%。在最近一次可用的分期评估中,IIIa期和IIIb期合并在男性中更为常见(38.6%对27.1%),且随着年龄增长更为常见(40 - 49岁为25.7%,80岁及以上为38.5%)。我们观察到了迄今为止公布的AL淀粉样变性的最高患病率。这可能是由于患病率确实增加,与AL淀粉样变性患者生存率提高的报道一致。