Instituto Tecnológico Y de Estudios Superiores de Monterrey, Monterrey, Mexico.
Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sci Rep. 2022 Mar 18;12(1):4674. doi: 10.1038/s41598-022-08606-1.
Red cell overproduction is seen in polycythemia vera (PV), a bone marrow myeloproliferative neoplasm characterized by trilinear cell proliferation (WBC, platelets), as well as in secondary erythrocytosis (SE), a group of heterogeneous disorders characterized by elevated EPO gene transcription. We aimed to verify the concordance of the International Classification of Diseases (ICD) code-based diagnosis of "polycythemia" or "erythrocytosis" with the true clinical diagnosis of these conditions. We retrospectively reviewed the electronic medical records (January 1, 2005, to December 31, 2016) of adult patients with ICD codes of polycythemia and/or erythrocytosis who had testing done for the presence of the JAK2V617F mutation. We verified the accuracy of the ICD code-based diagnoses by meticulous chart review and established whether these patients fulfilled the criteria by the evaluating physician for PV or SE and according to the World Health Organization 2016 diagnostic guidelines. The reliability of ICD coding was calculated using Cohen's kappa. We identified and chart reviewed a total of 578 patient records. Remarkably, 11% of the patients had concurrent diagnosis codes for PV and SE and were unable to be classified appropriately without individual chart review. The ICD code-based diagnostic system led to misidentification in an important fraction of cases. This represents a problem for the detection of PV or SE cases by ICD-based registries and their derived studies. Research based exclusively on ICD codes could have a potential impact on patient care and public health, and limitations must be weighed when research findings are conveyed.
红细胞增多可见于真性红细胞增多症（PV），这是一种骨髓髓系增殖性肿瘤，其特征为三系细胞增殖（WBC、血小板），也可见于继发性红细胞增多症（SE），这是一组异质性疾病，其特征为 EPO 基因转录升高。我们旨在验证基于国际疾病分类（ICD）编码的“真性红细胞增多症”或“红细胞增多症”诊断与这些疾病的真实临床诊断之间的一致性。我们回顾性地审查了 2005 年 1 月 1 日至 2016 年 12 月 31 日期间接受 JAK2V617F 突变检测的 ICD 编码为真性红细胞增多症和/或红细胞增多症的成年患者的电子病历。我们通过仔细的图表审查来验证基于 ICD 编码的诊断的准确性，并根据评估医师的判断确定这些患者是否符合 PV 或 SE 的标准，并根据 2016 年世界卫生组织的诊断指南。使用 Cohen's kappa 计算 ICD 编码的可靠性。我们共确定并审查了 578 例患者的记录。值得注意的是，11%的患者同时有 PV 和 SE 的诊断代码，如果不进行单独的图表审查，就无法进行适当的分类。基于 ICD 的诊断系统在很大一部分病例中导致了错误识别。这代表了基于 ICD 登记和衍生研究检测 PV 或 SE 病例的一个问题。仅基于 ICD 编码的研究可能对患者护理和公共卫生产生潜在影响，在传达研究结果时必须权衡局限性。
