Section of Allergy & Immunology, Division of Pulmonary, Allergy & Critical Care Medicine, Department of Medicine, Penn State Milton S. Hershey Medical Center, Hershey, Pa.
Penn State Hershey College of Medicine, Hershey, Pa.
J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1302-1306. doi: 10.1016/j.jaip.2017.01.008. Epub 2017 Mar 9.
Alpha-1 antitrypsin deficiency (AATD) frequently presents as difficult to manage asthma or asthma with fixed obstruction and is well documented as being underdiagnosed in the population.
This study aimed to better describe allergists'/immunologists' involvement in the care of patients with AATD and whether they currently contribute to the underdiagnosis by lack of screening for the condition.
Using the Research Electronic Data Capture tool, we submitted a questionnaire to 500 patients with severe AATD (ZZ, SZ, ZNull, and FZ) through the Alpha-1 Foundation Research Registry to collect information about patient diagnosis and treatment patterns. Approximately 45% completed the questionnaire, leading to a final enrollment of 226 participants.
Seventy-eight participants (34%) had seen an allergist, but only 11 (5%) were diagnosed with AATD by their allergist. Likewise, allergists prescribed alpha-1 augmentation therapy to only 5 (8%) of the 59 patients on augmentation therapy. Nearly 46% (n = 104) of all participants were diagnosed with either asthma (28%) or allergic disease (18%) before receiving a diagnosis of AATD. Eighteen patients had been treated with immunotherapy before their diagnosis of AATD, with 94% of these participants receiving treatment for 3 years or longer.
Our data suggest that specialists in Allergy and Immunology should consider and screen for AATD in patients with asthma in whom spirometry does not return to normal. Furthermore, we propose allergists/immunologists are well suited to screen and treat patients with AATD.
α-1 抗胰蛋白酶缺乏症（AATD）常表现为难以控制的哮喘或固定性气道阻塞，且在人群中诊断不足的情况已有充分记载。
本研究旨在更好地描述过敏症专家/免疫学家在 AATD 患者治疗中的参与情况，以及他们是否因缺乏对该病症的筛查而导致诊断不足。
我们使用 Research Electronic Data Capture 工具，通过 Alpha-1 基金会研究注册中心向 500 名严重 AATD 患者（ZZ、SZ、ZNull 和 FZ）发送了一份问卷，以收集有关患者诊断和治疗模式的信息。约有 45%的患者完成了问卷，最终纳入了 226 名参与者。
78 名参与者（34%）曾就诊于过敏症专家，但仅有 11 名（5%）被其过敏症专家诊断为 AATD。同样，过敏症专家仅为 59 名接受 AATD 增强治疗的患者中的 5 名（8%）开具了 alpha-1 增强治疗药物。近 46%（n=104）的所有参与者在被诊断为 AATD 之前被诊断患有哮喘（28%）或过敏性疾病（18%）。18 名患者在被诊断为 AATD 之前曾接受过免疫治疗，其中 94%的患者接受了 3 年或更长时间的治疗。
我们的数据表明，过敏和免疫专家应考虑并在肺功能检查未能恢复正常的哮喘患者中筛查 AATD。此外，我们建议过敏症专家/免疫学家适合筛查和治疗 AATD 患者。
