Characterization of a population of alpha1-antitrypsin deficient (A1ATD) patients

F. Costa, L. Rodrigues, Y. Martins, C. Mendonça (Coimbra, Portugal)

Source: Annual Congress 2008 - COPD
Session: COPD
Session type: E-Communication Session
Number: 4655

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
F. Costa, L. Rodrigues, Y. Martins, C. Mendonça (Coimbra, Portugal). Characterization of a population of alpha1-antitrypsin deficient (A1ATD) patients. Eur Respir J 2008; 32: Suppl. 52, 4655

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

Anafilipa Costa - 08.10.2008 12:04
How was lung function in non-smokers with Pi Null/Null ?
Could you confirm the protective effect of >50 mg/dl A1AT in non-smokers regarding lung function ? Yes, in fact we found that patients with a serum A1AT level below the protective threshhold of 50mg/dl were the ones that had more symptoms and lung function abnormalities together with emphysema detected by CT scan. How was lung function in non-smokers with Pi Null/Null ? Pi Null/Null patients had a moderate obstructive pattern in spirometry (FEV1/FVC 42% and FEV1 58%)and had slight signs of hyperinflation in lung volume mesurements. Addicionaly they had a decreased diffusion capacity, reduced oxygen levels and a slightly widened alveolar-arterial gradient. Could you find/suspect an effect on lung function of occupational exposure in non-smokers ? In theory, patients with SZ and SS genotype, if non-smokers, are expected to have a normal lung function. What we found in our work was that some non-smoking SS and SZ patients with occupational exposure had in fact enphysema and slight lung function abnormalities. From this we can suspect that occupational exposure may have an effect in lung function.

Thierry Rochat - 07.10.2008 11:49
3 questions
Could you confirm the protective effect of >50 mg/dl A1AT in non-smokers regarding lung function ? How was lung function in non-smokers with Pi Null/Null ? Could you find/suspect an effect on lung function of occupational exposure in non-smokers ?
You must Login to comment this presentation.


Related content which might interest you:
Prevalence of alpha-1-antitrypsin deficiency (A1AD) in patients with COPD.
Source: Virtual Congress 2021 – COPD burden, epidemiology and management
Year: 2021


Risk of cancer in individuals with severe alpha-1-antitrypsin deficiency (PiZZ) compared with the Swedish general population
Source: Virtual Congress 2020 – Asthma and COPD: How genetic and environment influences its developement?
Year: 2020


Mortality in individuals with severe alpha-1-antitrypsin deficiency (PiZZ)
Source: Eur Respir J 2006; 28: Suppl. 50, 144s
Year: 2006

Comparison between population with severe (ZZ) and intermediate (MZ) alpha1-antitrypsin deficiency and established COPD
Source: International Congress 2019 – Advances in clinical management of COPD
Year: 2019

Erythrocyte abnormalities in alpha-1-antitrypsin deficiency (AATD) patients
Source: Annual Congress 2009 - COPD: exacerbation and clinical problems
Year: 2009

Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017


Severe alpha-1-antitrypsin deficiency (A1ATD) caused by Q0Ourém mutation: A clinical characterization
Source: Annual Congress 2010 - Genetics of obstruction
Year: 2010

Differences of disease phenotypes in individuals with alpha-1-antitrypsin deficiency with genotypes PiZZ and PiSZ - Analysis from the German registry
Source: International Congress 2016 – Phenotyping and monitoring airway diseases
Year: 2016

Health status changes in alpha-1-antitrypsin deficiency (PiZ phenotype) over 3 years
Source: Annual Congress 2003 - Alpha-1 antitrypsin deficiency and COPD
Year: 2003


Prevalence of alpha-1 antitrypsin deficiency (AATD) and frequencies of alleles PI*S and PI*Z in patients with COPD in Brazil
Source: Annual Congress 2013 –Assessing the prevalence of COPD in the general population
Year: 2013

Functional alterations of small airways in patients with alpha-1 antitrypsin deficiency (AATD) in a longitudinal study
Source: Eur Respir J 2005; 26: Suppl. 49, 361s
Year: 2005

Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels
Source: International Congress 2015 – Promising novel findings in translational pulmonary research
Year: 2015

Pulmonary disease in intermediate alpha1-antitrypsin deficient patients
Source: International Congress 2017 – Clinical challenges in chronic lung diseases
Year: 2017


Effect of danazol on acute phase reactants in patients with PiM, PiMZ and PiZ phenotypes for alpha-1-antitrypsin deficiency
Source: Eur Respir J 2001; 18: Suppl. 33, 249s
Year: 2001

SERPINA1 gene variants in subjects from a general population with reduced alpha1-antitrypsin level
Source: Annual Congress 2008 - COPD
Year: 2008


Proteinase 3 activity is present in sputum from subjects with alpha-1-antitrypsin deficiency (AATD) and COPD
Source: Annual Congress 2012 - The smoking gun in COPD biology
Year: 2012

Frequency of α-1 antitrypsin deficiency (AATD) in a population screening in an high risk area (Val Trompia, Italy)
Source: Eur Respir J 2006; 28: Suppl. 50, 453s
Year: 2006

Association between alpha1 antitrypsin (AAT) circulating polymers (CP) and lung and liver disease in patients with AAT deficiency (AATD).
Source: Virtual Congress 2021 – Molecular pathology and cell biology of pulmonary diseases
Year: 2021


Tracing down the evolutionary history of Q0Ourém, a rare allele associated with severe alpha-1-antitrypsin deficiency (AATD)
Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease?
Year: 2009


Clinical phenotype of individuals with common COPD investigated during the targeted detection programme for alpha1-antitrypsin deficiency in Italy
Source: Annual Congress 2007 - Clinical aspects in COPD
Year: 2007