Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy

Diagnosis of primary or idiopathic spontaneous pneumothorax is one of exclusion, and in fact defines an entity that may have a difficult or impossible cause to be highlighted by current means, we consider it appropriate to study these etiopathogenic aspects. There is a definite association between alpha-1 antitrypsin deficiency and pulmonary emphysema and indirect spontaneous pneumothorax secondary to an emphysematous pulmonary lesion. Dose of alpha-1 antitrypsin is an immunoturbinimetric method for in vitro determination of alpha-1 antitrypsin in human serum and plasma. This product is calibrated to be used for the Daytona RX analyzer. The serum level of alpha-1-antitrypsin is not a determining factor in the postoperative evolution characterized by the interval until air loss disappears, but certainly exerts some influence, the exact level of which remains to be determined.

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Management of lung disease in alpha-1 antitrypsin deficiency: what we do and what we do not know

Therapeutic Advances in Chronic Disease ◽

10.1177/20406223211010172 ◽

2021 ◽

Vol 12_suppl ◽

pp. 204062232110101

Author(s):

Igor Barjaktarevic ◽

Michael Campos

Keyword(s):

Lung Disease ◽

Treatment Guidelines ◽

Management Program ◽

Lifestyle Changes ◽

Chronic Obstructive ◽

Augmentation Therapy ◽

Lung Function Decline ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

Management of lung disease in patients with alpha-1 antitrypsin deficiency (AATD) includes both non-pharmacological and pharmacological approaches. Lifestyle changes with avoidance of environmental pollutants, including tobacco smoke, improving exercise levels and nutritional status, all encompassed under a disease management program, are crucial pillars of AATD management. Non-pharmacological therapies follow conventional treatment guidelines for chronic obstructive pulmonary disease. Specific pharmacological treatment consists of administering exogenous alpha-1 antitrypsin (AAT) protein intravenously (augmentation therapy). This intervention raises AAT levels in serum and lung epithelial lining fluid, increases anti-elastase capacity, and decreases several inflammatory mediators in the lung. Radiologically, augmentation therapy reduces lung density loss over time, thus delaying disease progression. The effect of augmentation therapy on other lung-related outcomes, such as exacerbation frequency/length, quality of life, lung function decline, and mortality, are less clear and questions regarding dose optimization or route of administration are still debatable. This review discusses the rationale and available evidence for these interventions in AATD.

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Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement

Multidisciplinary Respiratory Medicine ◽

10.4081/mrm.2018.200 ◽

2018 ◽

Vol 13 ◽

Author(s):

Stefano Aliberti ◽

Andrea Gramegna ◽

Marco Confalonieri ◽

Angelo Corsico ◽

Luca Richeldi ◽

...

Keyword(s):

Lung Disease ◽

Pulmonary Emphysema ◽

Future Research ◽

Common Mechanism ◽

Main Body ◽

New Paradigm ◽

European Respiratory Society ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

Background: 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. Main body: 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. Conclusions: 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.

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