It is well-established that most patients with systemic light chain (AL) amyloidosis have multi-organ involvement and are often diagnosed after a lag period of increasing symptoms. We leverage electronic health record (EHR) data from the TriNetX research network to describe the incidence, timing, and co-occurrence of precursor conditions of interests in a cohort of AL amyloidosis patients identified between October 2015-December 2020. Nineteen precursor diagnoses of interest representing features of AL amyloidosis were identified using ICD codes up to 36 months prior to AL amyloidosis diagnosis. Among 1,401 patients with at least 36 months of EHR data prior to AL amyloidosis diagnosis, 46% were females, 16% were non-Hispanic Black, and 6% were Hispanic. The median age was 71 (range, 21–91) years. The median number of precursor diagnoses was 5 with dyspnea and fatigue being the most prevalent. The time from the first occurrence of a precursor to AL diagnosis ranged from 3.2 to 21.4 months. Analyses of pairwise co-occurrence of specific diagnoses indicated a high association (Cole’s coefficient >0.6) among the examined precursor diagnoses. These findings provide novel information about the timing and co-occurrence of key precursor conditions and could be used to develop algorithms for early identification of AL amyloidosis.
已有明确证据表明，大多数系统性轻链型（AL）淀粉样变性患者存在多器官受累，且常在症状加重滞后一段时间才被确诊。我们利用TriNetX研究网络的电子健康记录（EHR）数据，对2015年10月至2020年12月期间确诊的AL淀粉样变性患者队列，描述了相关前驱症状的发生率、时间线及共现情况。通过诊断前最长36个月内的ICD编码，我们识别出19种代表AL淀粉样变性特征的前驱诊断。在1401名拥有至少36个月完整EHR数据的患者中，46%为女性，16%为非西班牙裔黑人，6%为西班牙裔。中位年龄为71岁（范围21-91岁）。前驱诊断数量的中位数为5项，其中呼吸困难和乏力最为常见。从首次出现前驱症状到确诊AL的时间范围为3.2至21.4个月。对特定诊断的成对共现分析显示，所考察的前驱诊断之间存在高度关联性（科尔系数＞0.6）。这些发现为关键前驱症状的时间线和共现关系提供了新信息，可用于开发早期识别AL淀粉样变性的算法。
Timing and co-occurrence of symptoms prior to a diagnosis of light chain (AL) amyloidosis
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