Lascano Jorge E, Campos Michael A
a Division of Pulmonary, Critical Care and Sleep Medicine , University of Florida , Gainesville , FL , USA.
b Division of Pulmonary, Allergy, Critical Care and Sleep Medicine , University of Miami School of Medicine , Miami , FL , USA.
Postgrad Med. 2017 Nov;129(8):889-895. doi: 10.1080/00325481.2017.1381539. Epub 2017 Oct 5.
Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases.
PubMed was searched for relevant articles using AAT/AATD-related terms.
Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause. Because primary care providers are most likely to be the first to encounter symptomatic individuals, their role in the identification and early diagnosis of AATD patients is instrumental, particularly since therapy to slow lung disease progression is available. The diagnosis of AATD is laboratory-based rather than clinical. Testing for AATD should be part of the reflex testing that follows any COPD diagnosis or unexplained liver disease and can be performed by determining the AAT phenotype or genotype along with serum AAT levels. Both nonpharmacological and pharmacological approaches are recommended for treatment of lung disease, including smoking cessation, bronchodilators or supplemental oxygen as needed. Specific augmentation of AAT levels with regular purified AAT infusions has been found to slow lung function decline and emphysema progression in patients with moderate airflow obstruction and severely low serum AAT levels.
Improving primary care provider awareness and promoting regular reflex testing all COPD patients for AATD may significantly improve the care of COPD patients.
α-1抗胰蛋白酶缺乏症（AATD）是一种未得到充分认识的遗传性疾病，可导致慢性阻塞性肺疾病（COPD）和肝硬化，这两种临床病症是初级保健医生常见的。据估计，在美国，AATD影响1/4000 - 1/5000的人群，占所有COPD病例的1 - 2%。
使用与AAT/AATD相关的术语在PubMed上搜索相关文章。
不幸的是，主要由于COPD的诊断不足以及对AATD作为可能潜在病因缺乏认识，不到10%有症状的个体得到了正确诊断。由于初级保健提供者最有可能是首先接触有症状个体的人，他们在识别和早期诊断AATD患者方面的作用至关重要，特别是因为有减缓肺部疾病进展的治疗方法。AATD的诊断基于实验室检查而非临床症状。对AATD的检测应成为任何COPD诊断或不明原因肝病后续的反射性检测的一部分，可通过确定AAT表型或基因型以及血清AAT水平来进行。对于肺部疾病的治疗，推荐非药物和药物两种方法，包括戒烟、按需使用支气管扩张剂或补充氧气。已发现定期输注纯化的AAT特异性增加AAT水平可减缓中度气流阻塞和血清AAT水平严重降低患者的肺功能下降和肺气肿进展。
提高初级保健提供者的认识并促进对所有COPD患者进行常规反射性AATD检测，可能会显著改善COPD患者的护理。
