The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult
The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult
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DOI：
10.15326/jcopdf.3.3.2015.0182
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发表时间：
2016-07-01
影响因子：
2.4
通讯作者：
Teckman, Jeffrey
中科院分区：
文献类型：
--
作者：
Sandhaus, Robert A.;Turino, Gerard;Teckman, Jeffrey
背景资料：自从1989年美国胸科学会第一份指南声明发表以来，α-1抗胰蛋白酶缺乏症（AATD）成人的诊断和临床管理一直是持续争论的主题。(1)2003年，《美国胸科学会（ATS）/欧洲呼吸学会（ERS）声明：α-1抗胰蛋白酶缺乏症个体的诊断和管理标准》提出了一系列循证建议，包括强烈建议对所有有症状的慢性阻塞性肺疾病（COPD）成人进行广泛的诊断检测。(2)即便如此，AATD仍然被广泛低估。为了更新2003年的系统评价和临床指南，Alpha-1基金会赞助了一个专家委员会，审查所有相关的最新文献，以便为AATD患者的诊断和管理提供简明的建议。（1）AATD诊断测试的性能和解释，（2）成人AATD及其相关医疗条件的当前管理。针对临床医生提出的最紧迫问题（以临床医生为中心）进行了一项系统性综述，以识别自2003年全面综述以来发表的与AATD相关的引文，特别是评价2002年1月至2014年12月之间的出版物。重要的是，最近的出版物也征求了写作委员会成员。2003年的综合文献综述和本次综述构成了委员会结论和建议的依据。结果：委员会制定了AATD诊断和管理的建议。结论：主要建议继续支持和加强对所有有症状的固定气流阻塞的成人进行AATD检测的重要性，无论临床上标记为COPD还是哮喘。不明原因的支气管扩张症或肝病的个人也应该进行测试。一级亲属的家庭测试是目前最有效的检测技术。一般来说，患有AATD和肺气肿、支气管扩张和/或肝病的个体应根据这些临床状况的常规指南进行管理。在可使用纯化合并人血浆衍生α-1抗胰蛋白酶进行静脉强化治疗的国家，最近的证据为在AATD所致肺部疾病的适当个体中使用提供了有力支持。
Background: The diagnosis and clinical management of adults with alpha-1 antitrypsin deficiency (AATD) have been the subject of ongoing debate, ever since the publication of the first American Thoracic Society guideline statement in 1989.(1) In 2003, the "American Thoracic Society (ATS)/European Respiratory Society (ERS) Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency" made a series of evidence-based recommendations, including a strong recommendation for broad-based diagnostic testing of all symptomatic adults with chronic obstructive pulmonary disease (COPD). (2) Even so, AATD remains widely under-recognized. To update the 2003 systematic review and clinical guidance, the Alpha-1 Foundation sponsored a committee of experts to examine all relevant, recent literature in order to provide concise recommendations for the diagnosis and management of individuals with AATD.Purpose: To provide recommendations for: (1) the performance and interpretation of diagnostic testing for AATD, and (2) the current management of adults with AATD and its associated medical conditions.Methods: A systematic review addressing the most pressing questions asked by clinicians (clinician-centric) was performed to identify citations related to AATD that were published since the 2003 comprehensive review, specifically evaluating publications between January 2002 and December 2014. Important, more recent publications were solicited from the writing committee members as well. The combined comprehensive literature reviews of the 2003 document and this current review comprise the evidence upon which the committee's conclusions and recommendations are based.Results: Recommendations for the diagnosis and management of AATD were formulated by the committee.Conclusions: The major recommendations continue to endorse and reinforce the importance of testing for AATD in all adults with symptomatic fixed airflow obstruction, whether clinically labeled as COPD or asthma. Individuals with unexplained bronchiectasis or liver disease also should be tested. Family testing of first-degree relatives is currently the most efficient detection technique. In general, individuals with AATD and emphysema, bronchiectasis, and/or liver disease should be managed according to usual guidelines for these clinical conditions. In countries where intravenous augmentation therapy with purified pooled human plasma-derived alpha-1 antitrypsin is available, recent evidence now provides strong support for its use in appropriate individuals with lung disease due to AATD.