Respiratory symptoms and lung function in young adults with severe α1-antitrypsin deficiency (PiZZ)

Piitulainen, E.; Sveger, T.
August 2002
Thorax;Aug2002, Vol. 57 Issue 8, p705
Academic Journal
Background: Neonatal screening for alpha1-antitrypsin (AAT) deficiency was undertaken in Sweden between 1972 and 1974 when 129 infants with severe AAT deficiency (phenotype PiZ) were identified. The cohort has been followed up prospectively. Methods: 124 PiZ subjects, still alive and still living in Sweden, were invited to a follow up examination at about 22 years of age. The check up included a clinical examination, spirometric tests, and a questionnaire on smoking habits and respiratory symptoms. Results: Ninety eight subjects (97 PiZZ and 1 PiZ-) subjects attended the follow up. The mean age of the subjects was 22.5 years (range 19.8-24.8). The mean (SD) forced expiratory volume in 1 second (FEV1) was 98 (14)% predicted, vital capacity (VC) was 103 (14)% predicted, and the mean FEV1/VC ratio was 83 (7)%. Eighty six subjects had previously undergone spirometric tests. The median follow up time was 4.3 years (range 0.9-7.3). The mean annual change in FEV1 (% predicted) was -1.2% (95% Cl -2.1 to -0.3), in VC (% predicted) was -1.5% (95% Cl -2.0 to -0.9), and in the FEV1/VC ratio (%) was -0.3% (95% Cl -0.7 to 0.2). Twenty eight individuals (29%) reported recurrent wheezing. Fifteen subjects (15%) had been diagnosed by a physician as having asthma. Eighteen subjects reported that they had smoked at some time; 1 0 were current smokers. The mean number of pack years among the ever smokers was 3.4 (range 0.6-10.5). Ten of 1 8 ever-smokers and 18 of 80 non-smokers reported recurrent wheezing (p<0.01), while exertional dyspnoea was reported by six ever smokers and 11 non-smokers (p<0.05). Lung function test results did not differ significantly between ever smokers and non-smokers. Conclusions: Young PiZ adults have essentially normal lung function, but have a high prevalence of asthma symptoms. Smoking in these individuals is associated with an increased frequency of respiratory symptoms.


Related Articles

  • Fifty Years On: GWAS Confirms the Role of a Rare Variant in Lung Disease. Turner, Alice M. // PLoS Genetics;Aug2013, Vol. 9 Issue 8, p1 

    The article discusses research being done on alpha one antitrypsin deficiency (AATD). It references the study "Causal and Synthetic Association of Variants in the Serpina Gene Cluster With Alpha-Antitrypsin Serum Levels," by G. A. Thun et al. published in the 2013 issue of "PLoS Genetics." The...

  • Testing for AIpha-1 Antitrypsin Deficiency in a Pulmonary Rehabilitation Setting. Naegele, Valerie; Persinger, Rebecca // AARC Times;Oct2012, Vol. 36 Issue 10, p32 

    The article discusses the importance of testing for Alpha-1 Antitrypsin deficiency (AAT) in individuals with chronic obstructive pulmonary disorder (COPD). AAT deficiency may have a role to play in the etiology of COPD. The pulmonary rehabilitation program at Tri-city Medical Center in...

  • &alph;1-Antitrypsin deficiency 3: Clinical manifestations and natural history. Needham, M.; Stockley, R. A. // Thorax;May2004, Vol. 59 Issue 5, p441 

    It has been long recognized that α 1 antitrypsin (AAT) deficiency is associated with an increase in clinical symptoms and diseases in several systems. Patients may be diagnosed with AAT deficiency after presentation with symptoms or through family screening of an index case. Close association...

  • Clinical: Red Flag Symptoms - Dyspnoea. Singh, Pipin // GP: General Practitioner;11/4/2011, p35 

    In this article, the author discusses symptoms, causes and examination of dyspnoea which is a common presenting problem and has a very wide differential. It is important to include pulse rate and rhythm, oxygen saturation, evidence of distress while speaking, temperature and blood pressure while...

  • Diagnostic and treatment behaviour in children with chronic respiratory symptoms: relationship with socioeconomic factors. Kwong, G Ng Man; Das, C.; Proctor, A. R.; Whyte, M. K. B.; Primhak, R. A. // Thorax;Aug2002, Vol. 57 Issue 8, p701 

    Background: The prevalence and severity of asthma is believed to increase with increasing socioeconomic deprivation. The relationship between asthma diagnosis, symptoms, diagnostic accuracy, and socioeconomic deprivation as determined by Townsend scores was determined in Sheffield...

  • Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Fregonese, Laura; Stolk, Jan // Orphanet Journal of Rare Diseases;2008, Vol. 3, Special section p1 

    Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and...

  • Environmental arsenic exposure, selenium and sputum alpha-1 antitrypsin. Burgess, Jefferey L; Kurzius-Spencer, Margaret; Poplin, Gerald S; Littau, Sally R; Kopplin, Michael J; Stürup, Stefan; Boitano, Scott; Clark Lantz, R // Journal of Exposure Science & Environmental Epidemiology;Mar/Apr2014, Vol. 24 Issue 2, p150 

    Exposure to arsenic in drinking water is associated with increased respiratory disease. Alpha-1 antitrypsin (AAT) protects the lung against tissue destruction. The objective of this study was to determine whether arsenic exposure is associated with changes in airway AAT concentration and whether...

  • Lung Function Can Decline Quickly in Moderate α1-ATD.  // Pulmonary Reviews;Jul2009, Vol. 14 Issue 7, p25 

    The article discusses studies which examined the rate of lung function of patients with alpha-antitrypsin deficiency (ATP). It references studies by P. A. Dawkins and colleagues and another by J. B. Soriano and colleagues, which both appeared in the 2009 issue of "European Respiratory Journal."...

  • Air Pollution.  // Current Medical Literature: Respiratory Medicine;2009, Vol. 23 Issue 3, p76 

    The article summarizes studies related to air pollution. The study "Chronic Exposure to Outdoor Air Pollution and Lung Function in Adults," by L. J. Forbes et al measured the association between chronic exposure to outdoor air pollution and adult lung function using the Health Survey for...


Read the Article


Sign out of this library

Other Topics