Small airways disease in patients with alpha-1 antitrypsin deficiency

Toumpanakis, Dimitrios; Usmani, Omar

doi:10.1016/j.rmed.2023.107222

Cited by 5 publications

(3 citation statements)

References 94 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…18 In fact, although AAT deficiency can also affect the airway, the paradigm of lung injury due to AAT deficiency is PE. 19 Our results have unquestionable clinical implications. In severe forms, the clinical manifestations of the pulmonary disorders associated with AAT deficiency are indistinguishable from non-hereditary emphysema.…”

Section: Discussionmentioning

confidence: 71%

See 1 more Smart Citation

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Laviña,

Lumbreras,

Bravo

et al. 2024

COPD

View full text Add to dashboard Cite

Although pulmonary involvement due to alpha-1 antitrypsin (AAT) deficiency has been widely described, most studies focus on the genotypes causing severe deficiency (<60 mg/dL). Objective: The aim of this study was to analyze the prevalence of the different AAT gene variants that do not cause severe deficiency in patients with pulmonary emphysema diagnosed by thoracic computed tomography (CT). Furthermore, we assessed the risk associated with a non-severe decrease in AAT values in the pathogenesis of emphysema. Methods: Case-control study design that included patients who had a CT scan available of the entire thorax. In total, 176 patients with emphysema (cases) and 100 control subjects without emphysema were analyzed. Results: The prevalence of variants was higher among cases (25.6%; 45/176) than controls (22%; 22/100), although the difference was not statistically significant (P=0.504) when analyzed globally. In the control group, all the variants detected were MS. Excluding this variant, statistically significant differences were observed in the remaining variants (MZ, SS and SZ). Only 18% of the controls (all MS) presented values below our limit of normality, and all had values very close to the reference value (90 mg/dL). In contrast, 76% of patients with the other variants presented pathological levels. In a logistic regression model, both smoking and a non-severe reduction in AAT (60 to 90 mg/dL) increased the probability of emphysema. Conclusion:Our study confirms an association between certain variants in the alpha-1 antitrypsin gene that do not cause severe deficiency and the presence of pulmonary emphysema. This association with variants that are associated with reductions in serum AAT values is statistically significant and independent of smoking habit.

show abstract

Section: Discussionmentioning

confidence: 71%

“… 18 In fact, although AAT deficiency can also affect the airway, the paradigm of lung injury due to AAT deficiency is PE. 19 …”

Section: Discussionmentioning

confidence: 99%

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Laviña,

Lumbreras,

Bravo

et al. 2024

COPD

View full text Add to dashboard Cite

show abstract

“…Impaired small airway function is a sign of early respiratory injury and plays an important role in the diagnosis of asthma and COPD ( 24 - 26 ). It was reported that several small airway parameters, including MMEF and FEF 50 , are correlated with exacerbations in patients with asthma ( 27 ).…”

Section: Discussionmentioning

confidence: 99%

Establishment and application of reference equations for FEF50 and FEF75 in the Chinese population

Wang,

Gao,

Jian

et al. 2024

J Thorac Dis

View full text Add to dashboard Cite

Background Reference equations for forced expiratory flow at 50% and 75% of forced vital capacity (FVC) (FEF 50 and FEF 75 ) in the Chinese population are lacking. It is of great importance to establish equations covering most age groups and to study their applicability in clinical practice. Methods Using the lambda-mu-sigma (LMS) method, reference equations for FEF 50 and FEF 75 were constructed based on pulmonary function data from healthy subjects collected from January 2007 to June 2010 at 24 centers throughout China. Differences between the established equations and extraneous equations were compared using standardized means (Z values) and percentage errors (PE). The proportion of small airway dysfunction (SAD) defined by the present equations was calculated. The Fisher precision probability test and the Mann-Whitney test were used to analyze the magnitude of changes in small and large airway indices after bronchodilator inhalation in patients with suspected asthma and chronic obstructive pulmonary disease (COPD). Results Reference equations for FEF 50 and FEF 75 were established based on data from 7,115 healthy individuals (aged 4 to 80 years, 50.9% female, height between 95 and 190 cm). The present equations (all Z values were −0.0 and PE ranged from 2.0% to 4.2%) showed advantages over the European Community for Steel and Coal (ECSC) equations in 1993 (with Z values ranging from −0.7 to −0.2 and PE ranged from −23.4% to −4.5%). A total of 4,356 patients with suspected asthma (51.1% female; a mean age of 45.4 years) and 6,558 patients with suspected COPD (10.1% female; a mean age of 65.0 years) were included. The present equations defined 95.7% and 99.9% of SAD in these patients. After bronchodilator inhalation, greater mean improvement rates in small airway indices were observed both in patients with suspected asthma [mean ± standard deviation (SD) =48%±47%] and in patients with suspected COPD (mean ± SD =20%±30%) (P<0.05). Conclusions The reference equations for FEF 50 and FEF 75 established in this study should be considered for use in China. Further studies are needed to validate their value in the diagnosis of some chronic respiratory diseases.

show abstract

Emphysema and Diseases of Large Airways

Arrossi

2025

Pulmonary Pathology

View full text Add to dashboard Cite

Small airways disease in patients with alpha-1 antitrypsin deficiency

Cited by 5 publications

References 94 publications

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Establishment and application of reference equations for FEF50 and FEF75 in the Chinese population

Emphysema and Diseases of Large Airways

Contact Info

Product

Resources

About