Dept of Respiratory Medicine, Skåne University Hospital, Lund University, Lund, Sweden
Dept of Clinical Sciences, Division of Respiratory Medicine and Allergology, Lund University, Lund, Sweden.
Eur Respir J. 2017 Sep 9;50(3). doi: 10.1183/13993003.00198-2017. Print 2017 Sep.
Knowledge about the natural history of severe alpha 1-antitrypsin (AAT) deficiency (PiZZ) is limited. Our aim was to compare the survival of PiZZ individuals with randomly selected controls from the Swedish general population.The PiZZ subjects (n=1585) were selected from the Swedish National AATD Register. The controls (n=5999) were randomly selected from the Swedish population register. Smoking habits were known for all subjects.Median follow-up times for the PiZZ subjects (731 never-smokers) and controls (3179 never-smokers) were 12 and 17 years, respectively (p<0.001). During follow-up, 473 PiZZ subjects (30%), and 747 controls (12%) died. The PiZZ subjects had a significantly shorter survival time than the controls, p<0.001. After adjustment for gender, age, smoking habits and presence of respiratory symptoms, the risk of death was still significantly higher for the PiZZ individuals than for the controls, hazard ratio (HR) 3.2 (95% CI 2.8-3.6; p<0.001). By contrast, the risk of death was not increased in never-smoking PiZZ individuals identified by screening, compared to never-smoking controls, HR 1.2 (95% CI 0.6-2.2).The never-smoking PiZZ individuals identified by screening had a similar life expectancy to the never-smokers in the Swedish general population. Early diagnosis of AAT deficiency is of utmost importance.
关于严重的α1-抗胰蛋白酶（AAT）缺乏症（PiZZ）自然史的知识有限。我们的目的是比较 PiZZ 个体与瑞典普通人群中随机选择的对照者的生存率。
PiZZ 受试者（n=1585）从瑞典国家 AATD 登记处中选出。对照组（n=5999）从瑞典人口登记处中随机选择。所有受试者的吸烟习惯均已知。PiZZ 受试者（731 名从不吸烟者）和对照组（3179 名从不吸烟者）的中位随访时间分别为 12 年和 17 年（p<0.001）。随访期间，473 名 PiZZ 受试者（30%）和 747 名对照者（12%）死亡。PiZZ 受试者的生存时间明显短于对照组，p<0.001。调整性别、年龄、吸烟习惯和呼吸道症状后，PiZZ 个体的死亡风险仍然明显高于对照组，风险比（HR）为 3.2（95% CI 2.8-3.6；p<0.001）。相比之下，通过筛查发现的从不吸烟的 PiZZ 个体与从不吸烟的对照者相比，死亡风险并未增加，HR 为 1.2（95% CI 0.6-2.2）。通过筛查发现的从不吸烟的 PiZZ 个体的预期寿命与瑞典普通人群中的从不吸烟者相似。早期诊断 AAT 缺乏症至关重要。
