Effect of α1 antitrypsin deficiency on lung volume decline in severe asthmatic patients undergoing biologic therapy

Vianello, Andrea; Caminati, Marco; Senna, Gianenrico; Arcolaci, Alessandra; Chieco-Bianchi, Fulvia; Ferrarotti, Ilaria; Guarnieri, Gabriella; Molena, Béatrice; Crisafulli, Ernesto

doi:10.1016/j.jaip.2020.12.061

Cited by 5 publications

(3 citation statements)

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“…Although AATD has long been considered a rare disease, it is now identified as a prevalent hereditary disease among Caucasian individuals in Northern Europe and immigrants from these countries to the New World. Nevertheless, it remains highly underdiagnosed due to its clinical overlap with other pulmonary disorders, including chronic obstructive pulmonary disease (COPD) and severe asthma [ 14 , 15 ]. The highest prevalence of the PI*Z variant was recorded in Northern and Western European countries (mean gene frequency: 0.0140), peaking in southern Scandinavia, Denmark, the Netherlands, the UK, and northern France (gene frequency > 0.0200) [ 16 ].…”

Section: Genetics Epidemiology and Clinical Relevance Of Aatdmentioning

confidence: 99%

Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses

Vianello

Guarnieri

Braccioni

et al. 2021

JCM

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The most common hereditary disorder in adults, α1-antitrypsin deficiency (AATD), is characterized by reduced plasma levels or the abnormal functioning of α1-antitrypsin (AAT), a major human blood serine protease inhibitor, which is encoded by the SERine Protein INhibitor-A1 (SERPINA1) gene and produced in the liver. Recently, it has been hypothesized that the geographic differences in COVID-19 infection and fatality rates may be partially explained by ethnic differences in SERPINA1 allele frequencies. In our review, we examined epidemiological data on the correlation between the distribution of AATD, SARS-CoV-2 infection, and COVID-19 mortality rates. Moreover, we described shared pathogenetic pathways that may provide a theoretical basis for our epidemiological findings. We also considered the potential use of AAT augmentation therapy in patients with COVID-19.

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Section: Genetics Epidemiology and Clinical Relevance Of Aatdmentioning

confidence: 99%

Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses

Vianello

Guarnieri

Braccioni

et al. 2021

JCM

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“…In a study performed on patients with poorly controlled asthma, AATD was detectable in 2% to 3% of subjects, with 10.5% presenting a deficiency gene [ 32 ]. An Italian study reported a non-negligible prevalence of AATD in severe asthma patients on biologic treatment; a significantly more severe lung function decline was observed in non-smoking AATD patients, suggesting AATD as a potential cause of difficult-to-control asthma in this subpopulation [ 33 ]. A Spanish study that assessed the AAT distribution in an allergic asthma population reported that 22.4% of asthmatic patients had at least one mutated allele (S or Z) [ 34 ].…”

Section: Alpha1-antitrypsin Deficiencymentioning

confidence: 99%

Hidden Comorbidities in Asthma: A Perspective for a Personalized Approach

Maule

Olivieri

Guarnieri

et al. 2023

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Bronchial asthma is the most frequent inflammatory non-communicable condition affecting the airways worldwide. It is commonly associated with concomitant conditions, which substantially contribute to its burden, whether they involve the lung or other districts. The present review aims at providing an overview of the recent acquisitions in terms of asthma concomitant systemic conditions, besides the commonly known respiratory comorbidities. The most recent research has highlighted a number of pathobiological interactions between asthma and other organs in the view of a shared immunological background underling different diseases. A bi-univocal relationship between asthma and common conditions, including cardiovascular, metabolic or neurodegenerative diseases, as well as rare disorders such as sickle cell disease, α1-Antitrypsin deficiency and immunologic conditions with hyper-eosinophilia, should be considered and explored, in terms of diagnostic work-up and long-term assessment of asthma patients. The relevance of that acquisition is of utmost importance in the management of asthma patients and paves the way to a new approach in the light of a personalized medicine perspective, besides targeted therapies.

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“…2,5 This condition may result from various point mutations that can cause either a deficit of AAT or a loss of anti-proteolytic and anti-inflammatory function, which are associated with the development of pulmonary emphysema, hepatic disease, severe asthma, bronchiectasis, granulomatosis with polyangiitis, and less frequently, skin disorders such as panniculitis. [2][3][4][6][7][8][9][10] From a clinical perspective, AATD is a very heterogeneous condition, considering that its symptoms may appear earlier or later in life, or even never develop at all. This diversity may result not only from the individual genotype, but also from damage in the…”

Section: Introductionmentioning

confidence: 99%

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

et al. 2022

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Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagnosis and management of alpha 1-antitrypsin deficiency. Nevertheless, some important matters are yet to be included in those, mainly due to lack of robust scientific evidence, and continue to represent a point of discussion. This article reviews some important scientific publications and expresses the perspectives of a group of Portuguese experts regarding the management of alpha 1-antitrypsin deficiency, namely in terms of the pre and neonatal diagnosis, the impact of the COVID-19 pandemic, the validity of replacement therapy in lung transplant-receiving, and finally, alternative strategies of alpha 1-antitrypsin deficiency treatment to improve the patients’ quality of life.

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Effect of α1 antitrypsin deficiency on lung volume decline in severe asthmatic patients undergoing biologic therapy

Cited by 5 publications

References 9 publications

Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses

Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses

Hidden Comorbidities in Asthma: A Perspective for a Personalized Approach

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

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