Castaldo Anthony J, Wells Karen E, Khalid Subhan, Rashidi Emaan, Selva Christine N, Corcoran Deborah, Christiansen Sandra C, Riedl Marc A, Zuraw Bruce L, Loyo-Berrios Nilsa
US Hereditary Angioedema Association (HAEA), Fairfax, Virginia.
IQVIA, Durham, North Carolina.
Ann Allergy Asthma Immunol. 2025 Sep;135(3):303-310. doi: 10.1016/j.anai.2025.05.018. Epub 2025 May 23.
Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder. No US prevalence for all types of HAE has been estimated. Approval of 8 effective HAE therapies in the United States significantly expanded treated patient numbers and data collected in claims databases.
To provide the first US prevalence estimate of HAE (all types) using claims-based insurance data.
This retrospective study estimated the US prevalence of HAE using IQVIA's PharMetrics Plus MedTech claims database. Patients with 24 months of continuous database enrollment were divided into the following 3 cohorts: 2018, 2019, and 2020. Owing to the absence of International Classification of Diseases, Ninth Revision, Clinical Modification or International Classification of Diseases, 10th Revision, Clinical Modification diagnostic codes specific to HAE, we developed a proxy algorithm using International Classification of Diseases, 10th Revision, Clinical Modification codes for "angioneurotic edema" or "defects in the complement system" with more than or equal to 1 pharmacy claim for an HAE-indicated medication. An expert panel reviewed anonymized patient-level aggregate claims data to determine HAE status. A sensitivity analysis generated adjustment factors to address underrepresentation of Medicare patients in PharMetrics Plus MedTech database.
For 2018, 2019, and 2020, the claims-based algorithm yielded overall annual unadjusted HAE prevalence estimates per 100,000 and number of people diagnosed with HAE of 2.67, 9559; 2.61, 9341; and 2.43, 8694, respectively. The corresponding estimates based on expert physician analysis were 2.13, 7602; 2.03, 7275; and 1.84, 6595, respectively.
Our study provides the first claims-based comprehensive estimate of the US prevalence for all types of HAE across age groups, sexes, and geographic regions. Our calculations (which exceed the frequently cited 2:100,000 prevalence for HAE with C1 inhibitor deficiency) afford a real-world projected prevalence encompassing all types of HAE.
遗传性血管性水肿（HAE）是一种罕见的、可能危及生命的遗传性疾病。美国尚未对所有类型的HAE患病率进行估计。美国批准了8种有效的HAE治疗方法，显著增加了接受治疗的患者数量以及在索赔数据库中收集的数据。
利用基于索赔的保险数据，首次对美国HAE（所有类型）的患病率进行估计。
这项回顾性研究使用IQVIA的PharMetrics Plus MedTech索赔数据库估计美国HAE的患病率。连续24个月纳入数据库的患者被分为以下3组队列：2018年、2019年和2020年。由于缺乏《国际疾病分类，第九版，临床修订本》或《国际疾病分类，第十版，临床修订本》中特定于HAE的诊断代码，我们使用《国际疾病分类，第十版，临床修订本》中“血管神经性水肿”或“补体系统缺陷”的代码，并结合至少1次针对HAE指示药物的药房索赔，开发了一种替代算法。一个专家小组审查了匿名的患者层面汇总索赔数据，以确定HAE状态。敏感性分析产生了调整因素，以解决PharMetrics Plus MedTech数据库中医疗保险患者代表性不足的问题。
2018年、2019年和2020年，基于索赔的算法得出的每10万人中HAE的总体年度未调整患病率估计值以及被诊断为HAE的人数分别为：2.67，9559；2.61，9341；和2.43，8694。基于专家医生分析的相应估计值分别为2.13，7602；2.03，7275；和1.84，6595。
我们的研究首次基于索赔对美国所有类型HAE在各年龄组、性别和地理区域的患病率进行了全面估计。我们的计算结果（超过了经常引用的C1抑制剂缺乏型HAE的2：100,000患病率）提供了一个涵盖所有类型HAE的实际预测患病率。
