Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
University Hospitals Birmingham, Birmingham, UK.
Int J Chron Obstruct Pulmon Dis. 2023 Jun 13;18:1197-1205. doi: 10.2147/COPD.S395663. eCollection 2023.
Alpha 1 antitrypsin deficiency (AATD) is a genetic risk factor for chronic obstructive pulmonary disease (COPD). Whilst testing for the condition is relatively simple, there is a disconnect in published literature between genetic epidemiology and numbers of patients known to specialists. This makes planning services for patients difficult. We aimed to estimate the number of patients likely to have lung disease eligible for specific AATD therapy within the UK.
The THIN database was used to determine the prevalence of AATD and symptomatic COPD. This, and published rates of AATD were used to extrapolate THIN data to the population size of the UK to give an indicative population size for symptomatic AATD patients who have lung disease. The Birmingham AATD registry was used to describe age at diagnosis, rate of lung disease and symptomatic lung disease for patients with PiZZ (or equivalent) AATD, together with the time from symptom onset to diagnosis, in order to aid interpretation of the THIN data and improve modeling.
THIN data showed COPD prevalence of 3%, and AATD prevalence of 0.005-0.2%, depending on how stringently AATD diagnostic codes were applied. The majority of Birmingham AATD patients were diagnosed between the ages 46-55, whilst patients recorded in THIN tended to be older. The rate of COPD was similar in the THIN and Birmingham patients diagnosed with AATD. Modelling to the size of the UK demonstrated a likely symptomatic AATD population of between 3016 and 9866 people.
AATD is likely to be under-diagnosed in the UK. Based on projected patient numbers an expansion to specialist services is desirable, in particular if specific therapy for AATD such as augmentation were to be introduced to the healthcare system.
α1 抗胰蛋白酶缺乏症（AATD）是慢性阻塞性肺疾病（COPD）的遗传危险因素。虽然检测该疾病相对简单，但已发表的文献中，遗传流行病学与专科医生所了解的患者数量之间存在脱节。这使得为患者规划服务变得困难。我们旨在估计英国可能患有适合特定 AATD 治疗的肺病的患者数量。
使用 THIN 数据库确定 AATD 和有症状 COPD 的患病率。利用这一点以及已发表的 AATD 发病率，对 THIN 数据进行外推，以获得英国人口规模的指示性数据，从而确定患有肺病的有症状 AATD 患者的人群规模。使用伯明翰 AATD 登记处描述 PiZZ（或等效）AATD 患者的诊断年龄、肺病和有症状肺病的发生率，以及从症状出现到诊断的时间，以帮助解释 THIN 数据并改进建模。
THIN 数据显示 COPD 的患病率为 3%，AATD 的患病率为 0.005-0.2%，具体取决于 AATD 诊断代码的应用严格程度。伯明翰 AATD 患者的大多数诊断年龄在 46-55 岁之间，而在 THIN 中记录的患者年龄往往较大。在被诊断为 AATD 的 THIN 和伯明翰患者中，COPD 的发病率相似。根据英国的人口规模进行建模，表明可能有 3016 至 9866 名有症状的 AATD 患者。
在英国，AATD 可能被漏诊。根据预测的患者人数，需要扩大专科服务，特别是如果要将 AATD 的特定治疗方法（如增敏治疗）引入医疗保健系统。
