The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency

Kelbel, Theodore; Morris, Darren; Walker, Deirdre; Henao, Maria Paula; Craig, Timothy J.

doi:10.1016/j.jaip.2017.01.008

Cited by 17 publications

(10 citation statements)

References 19 publications

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“…A recent study conducted through the Alpha-1 Foundation Research Registry, involving 500 patients with severe AATD, has provided evidence that nearly 46% of all participants were diagnosed with either asthma or allergic disease [21]. However, among the 34% participants undergoing allergological evaluation, only 5% were diagnosed with AATD by their allergist.…”

Section: Asthmamentioning

confidence: 99%

α₁-Antitrypsin deficiency and chronic respiratory disorders

et al. 2020

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α1-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient variant of AAT. Determining AAT concentration in serum or plasma and identifying allelic variants by phenotyping or genotyping are fundamental in the diagnosis of AATD. Initial evaluation and annual follow-up measurement of lung function, including post-bronchodilator forced expiratory volume in 1 s and gas transfer inform on disease progression. Lung densitometry is the most sensitive measure of emphysema progression, but must not be use in the follow-up of patients in routine clinical practice. The exogenous administration of purified human serum-derived AAT is the only approved specific treatment for AATD in PiZZ. AAT augmentation therapy is not recommended in PiSZ, PiMZ or current smokers of any protein phenotype, or in patients with hepatic disease. Lung volume reduction and endoscopic bronchial valve placement are useful in selected patients, whereas the survival benefit of lung transplant is unclear. There are several new lines of research in AATD to improve the diagnosis and evaluation of the response to therapy and to develop genetic and regenerative therapies and other treatments.

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Section: Asthmamentioning

confidence: 99%

α₁-Antitrypsin deficiency and chronic respiratory disorders

et al. 2020

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“…On this basis, in 1997 the WHO recommended that all patients with COPD and adult-onset asthma should be screened for AATD [ 25 ]. A recent study conducted through the Alpha-1 Foundation Research Registry, involving 500 patients with severe deficiency, confirmed that clinical manifestations of uncontrolled asthma or asthma with fixed obstruction are frequent in AATD; however, among the 34% participants undergoing allergological evaluation, only 5% were diagnosed with AATD [ 26 ].…”

Section: Heterogeneity Of Aatd Associated Lung Diseasementioning

confidence: 99%

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

Gramegna

Aliberti

Confalonieri

et al. 2018

Multidiscip Respir Med

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BackgroundThe 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 bodyThe 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.ConclusionsOver 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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“…Signs and symptoms of pulmonary involvement with AATD closely resemble those of other patients with COPD. However, a very recent study on 500 severe AATD subjects has provided evidence that nearly 46% of all participants were diagnosed with either asthma or allergic disease [ 20 ], and a higher incidence of the main AATD alleles has recently been detected in pulmonary Langerhans cell histiocytosis [ 21 ].…”

Section: Different α 1 -At Variants Have a Differementioning

confidence: 99%

Update on α₁-antitrypsin deficiency

Ferrarotti

Ottaviani

Silvestri

et al. 2018

Breathe

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α1-Antitrypsin deficiency (AATD) is an inherited metabolic disorder in which mutations in the coding sequence of the SERPINA1 gene prevent secretion of α1-antitrypsin (α1-AT) and cause predisposition to pulmonary and liver diseases. The heterogeneity of clinical manifestations in AATD is related to the complexity of biological function of α1-AT. The role of smoking is crucial in the natural history of lung damage progression in severe AATD individuals, even if it also partly explains the heterogeneity in lung disease. Lung damage progression in AATD can also be related to body mass index, exacerbation rate, sex, environmental exposure and specific mutations of SERPINA1. Recent randomised controlled trials, together with previous observational work, have provided compelling evidence for the importance of early detection and intervention in order to enable patients to receive appropriate treatment and preserve functional lung tissue.

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The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency

Cited by 17 publications

References 19 publications

α₁-Antitrypsin deficiency and chronic respiratory disorders

α₁-Antitrypsin deficiency and chronic respiratory disorders

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

Update on α₁-antitrypsin deficiency

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The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency

Cited by 17 publications

References 19 publications

α1-Antitrypsin deficiency and chronic respiratory disorders

α1-Antitrypsin deficiency and chronic respiratory disorders

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

Update on α1-antitrypsin deficiency

Contact Info

Product

Resources

About

α₁-Antitrypsin deficiency and chronic respiratory disorders

α₁-Antitrypsin deficiency and chronic respiratory disorders

Update on α₁-antitrypsin deficiency