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The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry
BackgroundAlpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and...
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Lung Inflammation in alpha-1-antitrypsin deficient individuals with normal lung function
BackgroundAlpha-1-antitrypsin deficient (AATD) individuals are prone to develop early age of onset chronic obstructive pulmonary disease (COPD) more...
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No gender-specific differences in comorbidities in patients with chronic obstructive pulmonary disease due to alpha-1 antitrypsin deficiency
BackgroundA deficiency in alpha-1 antitrypsin (A1AD) leads to increased activity of proteolytic enzymes. The consequence is a damage of airways and...
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New variants of alpha-1-antitrypsin: structural simulations and clinical expression
BackgroundAlpha-1 antitrypsin deficiency (AATD) is characterized by reduced serum levels of the AAT protein and predisposes to liver and lung...
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Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning
BackgroundChronicobstructive pulmonary disease (COPD) is an inflammatory multisystemic disease caused by environmental exposures and/or genetic...
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Cigarette smoke exposed airway epithelial cell-derived EVs promote pro-inflammatory macrophage activation in alpha-1 antitrypsin deficiency
BackgroundAlpha-1 antitrypsin deficiency (AATD) is a genetic disorder most commonly secondary to a single mutation in the SERPINA1 gene (PI*Z) that...
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The association of tumor-expressed REG4, SPINK4 and alpha-1 antitrypsin with cancer-associated thrombosis in colorectal cancer
Novel biomarkers are needed to improve current imperfect risk prediction models for cancer-associated thrombosis (CAT). We recently identified an...
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Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools
BackgroundAlpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease...
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The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO
BackgroundAlthough bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and...
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Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers....
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Protective role of the alpha-1-antitrypsin in intervertebral disc degeneration
BackgroundIntervertebral disc degeneration is a complex disease with high prevalence. It suggests that cell death, senescence, and extracellular...
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Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis
Alpha-1 antitrypsin deficiency (AATD) is a significantly under-diagnosed genetic condition caused by reduced levels and/or functionality of alpha-1...
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Alpha-1 Antitrypsin Deficiency: a Rare Disease?
Purpose of ReviewCommonly categorized as a rare disease, alpha-1 antitrypsin deficiency (AATD) is neither rare, when compared to many other genetic...
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Detection of alpha-1 antitrypsin deficiency: the past, present and future
BackgroundMost patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible...
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Medical costs of Alpha-1 antitrypsin deficiency-associated COPD in the United States
BackgroundThere are limited data on economic aspects of the genetic variant of chronic obstructive pulmonary disease (COPD) in the context of the...
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A randomised, double-blind, placebo-controlled, pilot trial of intravenous plasma purified alpha-1 antitrypsin for SARS-CoV-2-induced Acute Respiratory Distress Syndrome: a structured summary of a study protocol for a randomised, controlled trial
ObjectivesThe primary objective is to demonstrate that, in patients with PCR-confirmed SARS-CoV-2 resulting in Acute Respiratory Distress Syndrome...
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Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature
BackgroundAlpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency...
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Baseline characteristics from a 3-year longitudinal study to phenotype subjects with COPD: the FOOTPRINTS study
BackgroundFOOTPRINTS ® is a prospective, longitudinal, 3-year study assessing the association between biomarkers of inflammation/lung tissue...
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Alpha-1 Asthma Overlap Syndrome: a Clinical Overview
Purpose of ReviewAlpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases that is associated with severe complications and...
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Alpha-1 Antitrypsin Deficiency and Accelerated Aging: A New Model for an Old Disease?
Alpha-1 antitrypsin (AAT) protects the lung by inhibiting neutrophil proteinases, but AAT has many other non-proteolytic functions that are...
