Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years

ObjectivesTo establish a database network for the study of alpha-1 antitrypsin deficiency (AATD) and compare the results to CT lung density as the most direct measure of emphysema.DesignA central electronic database was established to permit the upload of anonymised patient data from remote sites. Prospectively collected CT data were recorded onto disc, anonymised, analysed at the coordinating centre and compared with the clinical features of the disease.SettingTertiary referral centres with expertise in the management of AATD focused on academic Biomedical Research Units and Wellcome Clinical Research Facilities.ParticipantsData were collected from 187 patients over 1 year from eight UK academic sites. This included patient demographics, postbronchodilator physiology, health status and CT. Analysis was undertaken at the coordinating centre in Birmingham.ResultsPatient recruitment in the 12 months reached 94% of target (set at 200) covering the whole spectrum of the disease from those with normal lung function to very severe chronic obstructive lung disease. CT scan suitable for analysis was available from 147 (79%) of the patients. CT density, analysed as the threshold for the lowest 15% of lung voxels, showed statistically significant relationships with the objective physiological parameters of lung function as determined by spirometric Global Initiative for Chronic Obstructive Lung Disease (GOLD) severity staging (p<0.001) and carbon monoxide gas transfer (p<0.01). Density also correlated with subjective measures of quality of life (p=0.02).ConclusionsEstablishment of the network for data collection and its transfer was highly successful facilitating future collaboration for the study of this rare disease and its management. CT densitometry correlated well with the objective clinical features of the disease supporting its role as the specific marker of the associated emphysema and its severity. Correlations with subjective measures of health, however, were generally weak indicating other factors play a role.

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Lung Function and Health Status in Individuals with Severe Alpha-1-Antitrypsin Deficiency at the Age of 42

International Journal of Chronic Obstructive Pulmonary Disease ◽

10.2147/copd.s335683 ◽

2021 ◽

Vol Volume 16 ◽

pp. 3477-3485

Author(s):

Georg Rüdiger Schramm ◽

Behrouz Mostafavi ◽

Eeva Piitulainen ◽

Per Wollmer ◽

Hanan A Tanash

Keyword(s):

Health Status ◽

Lung Function ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

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P127 Effect of depression and anxiety on health status and lung function in patients with alpha 1 antitrypsin deficiency

10.1136/thorax-2018-212555.285 ◽

2018 ◽

Author(s):

F Mobeen ◽

RG Edgar ◽

A Pye ◽

R Stockley ◽

AM Turner

Keyword(s):

Health Status ◽

Lung Function ◽

Depression And Anxiety ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

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Relationship between Depression and Anxiety, Health Status and Lung Function in Patients with Alpha-1 Antitrypsin Deficiency

COPD Journal of Chronic Obstructive Pulmonary Disease ◽

10.1080/15412555.2021.1991904 ◽

2021 ◽

pp. 1-9

Author(s):

Farah Mobeen ◽

Ross G. Edgar ◽

Anita Pye ◽

Robert A. Stockley ◽

Alice M. Turner

Keyword(s):

Health Status ◽

Lung Function ◽

Depression And Anxiety ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

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Air Trapping Is Associated with Heterozygosity for Alpha-1 Antitrypsin Mutations in Patients with Asthma

Respiration ◽

10.1159/000513072 ◽

2021 ◽

pp. 1-10

Author(s):

Marina Aiello ◽

Marianna Ghirardini ◽

Laura Marchi ◽

Annalisa Frizzelli ◽

Roberta Pisi ◽

...

Keyword(s):

Lung Function ◽

Serum Concentration ◽

Forced Expiratory Volume ◽

Small Airway ◽

University Hospital ◽

Air Trapping ◽

Asthmatic Patients ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin ◽

Few Data

Background: Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder involving lungs, characterized by low serum concentration of the protein alpha-1 antitrypsin (AAT) also called proteinase inhibitor (PI). Asthma is common in AATD patients, but there are only few data on respiratory function in asthmatic patients with AATD. Objectives: The aim of the study was to evaluate lung function in asthmatic outpatients with mutation in the SERPINA1 gene coding for AAT versus asthmatic subjects without mutation. Methods: We performed the quantitative analysis of the serum concentration of AAT in 600 outpatients affected by mild to moderate asthma from the University Hospital of Parma, Italy. Fifty-seven of them underwent the genetic analysis subsequently; they were subdivided into mutated and non-mutated subjects. All the mutated patients had a heterozygous genotype, except 1 (PI*SS). We assessed the lung function through a flow-sensing spirometer and the small airway parameters through an impulse oscillometry system. Results: The values of forced vital capacity (% predicted) and those of the residual volume to total lung capacity ratio (%) were, respectively, lower and higher in patients mutated versus patients without mutation, showing a significantly greater air trapping (p = 0.014 and p = 0.017, respectively). Moreover, patients with mutation in comparison to patients without mutation showed lower forced expiratory volume in 3 s (% predicted) and forced expiratory volume in 6 s (L) spirometric values, reflecting a smaller airways contribution. Conclusions: In asthmatic patients, heterozygosity for AAT with PI*MZ and PI*MS genotypes was associated with small airway dysfunction and with lung air trapping.

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Serum bilirubin and chronic obstructive pulmonary disease (COPD): a systematic review

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01395-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

David M. MacDonald ◽

Ken M. Kunisaki ◽

Timothy J. Wilt ◽

Arianne K. Baldomero

Keyword(s):

Systematic Review ◽

Health Status ◽

Lung Function ◽

Serum Bilirubin ◽

Respiratory Health ◽

Airflow Obstruction ◽

Risk Of Bias ◽

Chronic Obstructive ◽

Strength Of Evidence ◽

Acute Exacerbations

Abstract Background Bilirubin is a potent antioxidant and higher serum bilirubin levels have been associated with improved COPD outcomes. We performed a systematic review to evaluate the association between serum bilirubin levels and lung function (FEV1), prevalence/incidence of COPD, acute exacerbations of COPD, respiratory health status, and mortality. Methods MEDLINE® and Embase were searched using Ovid® (search updated October 1st, 2019). We included studies that measured serum bilirubin levels and outcomes of interest in adults with or without underlying lung disease. We excluded studies of those with liver disease or drug-induced elevations in bilirubin. We used the Newcastle–Ottawa scale to assess individual study risk of bias (ROB) and the US Agency for Healthcare Research and Quality—Evidence Based Practice tool to assess overall strength of evidence (SOE). Two authors independently determined eligibility, performed data abstraction, assessed ROB, and determined SOE. Results Thirteen studies (5 low risk of bias, 3 moderate and 5 high risk) were included. We found low strength of evidence for the association between higher bilirubin levels and lower risk of acute exacerbations of COPD (2 studies), mortality (3 studies), COPD diagnosis (4 studies), and lung function (FEV1) (8 studies). We found insufficient evidence on the relationship between serum bilirubin and respiratory health status/exercise capacity (1 study) and airflow obstruction (FEV1/FVC ratio) (4 studies). Conclusion Higher bilirubin levels may be associated with lower mortality and improved COPD outcomes. Randomized trials are needed to evaluate the effect of medications that raise serum bilirubin on COPD outcomes. PROSPERO registration: CRD42019145747.

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