Hartog Nicholas L, Wu Eveline Y, Rider Nicholas L, Meng Yang, Hartline Brian, Adams Philippe, Aggarwal Saurabh, Harrington Amanda
Corewell Health, Grand Rapids, MI, USA.
Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
Clin Exp Med. 2025 Jul 12;25(1):246. doi: 10.1007/s10238-025-01773-1.
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disease associated with heterogeneous manifestations, including recurrent infections, lymphoproliferation, and autoimmunity. This analysis sought to estimate the mean annual direct medical costs of manifestations associated with APDS. A burden-of-illness cost calculator was developed based on survey responses from the US clinical experts, published evidence, and the US cost sources (2023). Results from the survey provided estimates of mean annual prevalence of various manifestations associated with APDS and the mean number of times patients experienced recurrent manifestations in a year. In the base case analysis, the annual mean cost of manifestations associated with APDS per patient in the US was estimated to be $116,387 (range, $10,711-$417,455) with gastrointestinal-, infection-, and hematology-related manifestations being the largest contributing factors. The weighted average scenario analysis resulted in similar estimates of mean annual manifestation costs as the base case analysis. To our knowledge, our study is the first to provide estimates of annual prevalence of manifestations associated with APDS and to estimate the annual direct medical costs for patients with APDS in the US. The high mean annual cost associated with APDS contributes to the economic burden of patients and health care payers. Patients with APDS often require off-label, symptomatic treatments for various manifestations that do not target the root cause of the disorder. These treatments are associated with high costs that may not control symptoms. This analysis provides valuable support for discussions about resource utilization and the economic burden of APDS.
活化磷脂酰肌醇3-激酶δ综合征（APDS）是一种罕见的遗传疾病，临床表现多样，包括反复感染、淋巴细胞增殖和自身免疫。本分析旨在估算与APDS相关临床表现的年均直接医疗费用。基于美国临床专家的调查反馈、已发表的证据以及美国成本来源（2023年），开发了一种疾病负担成本计算器。调查结果提供了与APDS相关的各种临床表现的年均患病率估计值，以及患者一年中反复出现这些表现的平均次数。在基础病例分析中，美国每位APDS患者与临床表现相关的年均成本估计为116,387美元（范围为10,711美元至417,455美元），其中胃肠道、感染和血液学相关表现是最大的成本贡献因素。加权平均情景分析得出的年均表现成本估计值与基础病例分析相似。据我们所知，我们的研究首次提供了与APDS相关临床表现的年患病率估计值，并估算了美国APDS患者的年均直接医疗费用。与APDS相关的高昂年均成本给患者和医疗保健支付方带来了经济负担。APDS患者通常需要针对各种临床表现进行非标签对症治疗，这些治疗并未针对该疾病的根本原因。这些治疗费用高昂，且可能无法控制症状。本分析为有关APDS资源利用和经济负担的讨论提供了有价值的支持。
