Gramegna Andrea, Aliberti Stefano, Confalonieri Marco, Corsico Angelo, Richeldi Luca, Vancheri Carlo, Blasi Francesco
1Department of Pathophysiology and Transplantation, University of Milano; Internal Medicine Department, Respiratory Unit and Adult Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
2Department of Medical Sciences, Respiratory Diseases Unit, University Hospital of Cattinara, Trieste, Italy.
Multidiscip Respir Med. 2018 Oct 8;13:39. doi: 10.1186/s40248-018-0153-4. eCollection 2018.
The European Respiratory Society recently published an important statement reviewing available evidence on diagnosis and treatment of lung disease associated to alpha-1 antitrypsin deficiency (AATD). Several issues on this topic still remain unresolved and subject of interpretation according to different standard procedures and healthcare systems worldwide. The purpose of this commentary is to offer a critical contribution to most of these controversial issues in light of an Italian perspective for the management of this disease.
The clinical spectrum of AATD lung disease might include different manifestations and the traditional paradigm of a younger emphysematous patient has been revealing insufficient. Targeting with appropriate testing only COPD patients might be considered a limited approach leading to underestimation of the real prevalence of the disease. Several reports have suggested the association between AATD and other chronic respiratory conditions, as asthma and bronchiectasis. A deeper evaluation of clinical, radiological, microbiological and functional variables is, therefore, needed in order to investigate different phenotypes in AATD patients. In addition, a new line of translational research in AATD might focus on the development of personalized therapeutic regimens taking into account the patient clinical profile and needs.
Over the past years, AATD has been interpreted as a common mechanism of inflammatory disequilibrium and tissue damage across different conditions. Future research is gradually pointing toward this new paradigm by expanding the evidence of the role of AAT as a potent immunomodulatory and anti-inflammatory drug in conditions different from pulmonary emphysema.
欧洲呼吸学会最近发表了一份重要声明，回顾了与α-1抗胰蛋白酶缺乏症（AATD）相关的肺部疾病诊断和治疗的现有证据。根据世界各地不同的标准程序和医疗保健系统，关于这个主题的几个问题仍然没有解决且存在解释上的差异。本评论的目的是从意大利对该疾病管理的角度，对这些有争议的问题中的大多数做出批判性贡献。
AATD肺部疾病的临床谱可能包括不同表现，而年轻肺气肿患者的传统模式已显示出不足。仅针对慢性阻塞性肺疾病（COPD）患者进行适当检测可能被认为是一种有限的方法，会导致对该疾病实际患病率的低估。几份报告表明AATD与其他慢性呼吸道疾病之间存在关联，如哮喘和支气管扩张。因此，需要对临床、放射学、微生物学和功能变量进行更深入的评估，以研究AATD患者的不同表型。此外，AATD的一个新的转化研究方向可能侧重于根据患者的临床特征和需求制定个性化治疗方案。
在过去几年中，AATD被解释为不同疾病中炎症失衡和组织损伤的常见机制。未来的研究正通过扩大AAT作为一种强效免疫调节和抗炎药物在与肺气肿不同的疾病中的作用证据，逐渐指向这一新模式。
