Bradi Ana C, Audisho Nadeen, Casey Deborah K, Chapman Kenneth R
Asthma & Airway Centre, University Health Network, Toronto Western Hospital , Toronto, Ontario , Canada and Division of Respiratory Medicine, Department of Medicine, University of Toronto , Toronto, Ontario , Canada.
COPD. 2015 May;12 Suppl 1:15-21. doi: 10.3109/15412555.2015.1021908.
Since 1999, as part of the Alpha1 International Registry (AIR), the Canadian Alpha-1 Antitrypsin Deficiency (AATD) Registry has maintained demographic and medical information volunteered by AATD individuals.
We undertook a retrospective chart review to describe the characteristics of registry participants. Inclusion criteria were ZZ phenotype or other severe deficiency and written consent. We reviewed baseline medical records and annual follow-ups, conducted by mail.
The number of registrants ranged from 8.7 per million in British Columbia and Ontario to 1.3 per million in Quebec. Similarly, the rate of augmentation therapy use ranged from 7.7 per million in British Columbia to 0.1 per million in Quebec. 290 patients (146 males), most PiZZ, were enrolled by 2013. Patients with lung disease reported symptoms onset at (mean ± SD) 40 ± 11 years but were diagnosed as AATD at 47 ± 10 years. Typical patients were ex-smokers with respiratory symptoms, severely reduced FEV1, an accelerated rate of FEV1 decline, and minimal bronchodilator response. A subgroup diagnosed by liver disease or familial screening was younger and had better preserved lung function but a similar rate of FEV1 decline. There were 63 deaths, of which 29 were lung-related and 6 were liver-related. Average age at death was 60.5 ± 11.2 years.
Most patients experience a diagnostic delay of seven years after symptom onset, a period during which lung health may deteriorate further. There is marked regional variation in the rate of diagnosis and specific therapy usage for AAT in Canada.
自1999年起，作为α1国际注册库（AIR）的一部分，加拿大α1抗胰蛋白酶缺乏症（AATD）注册库一直在收集AATD患者自愿提供的人口统计学和医学信息。
我们进行了一项回顾性病历审查，以描述注册参与者的特征。纳入标准为ZZ表型或其他严重缺乏症以及书面同意。我们审查了通过邮件进行的基线病历和年度随访。
注册人数从不列颠哥伦比亚省和安大略省的每百万8.7人到魁北克省的每百万1.3人不等。同样，增强治疗的使用率从不列颠哥伦比亚省的每百万7.7人到魁北克省的每百万0.1人不等。到2013年，共有290名患者（146名男性）入组，大多数为PiZZ型。患有肺部疾病的患者报告症状出现的时间为（平均±标准差）40±11岁，但被诊断为AATD的时间为47±10岁。典型患者为有呼吸道症状的既往吸烟者，FEV1严重降低，FEV1下降速度加快，支气管扩张剂反应极小。通过肝病或家族筛查诊断出的一个亚组年龄较小，肺功能保存较好，但FEV1下降率相似。共有63例死亡，其中29例与肺部相关，6例与肝脏相关。平均死亡年龄为60.5±11.2岁。
大多数患者在症状出现后有七年的诊断延迟，在此期间肺部健康可能会进一步恶化。加拿大AAT的诊断率和特定治疗的使用存在明显的地区差异。
