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. 2002 Aug;57(8):705–708. doi: 10.1136/thorax.57.8.705

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

E Piitulainen 1, T Sveger 1
PMCID: PMC1746413  PMID: 12149531

Abstract

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% CI –2.1 to –0.3), in VC (% predicted) was –1.5% (95% CI –2.0 to –0.9), and in the FEV1/VC ratio (%) was –0.3% (95% CI –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; 10 were current smokers. The mean number of pack years among the ever smokers was 3.4 (range 0.6–10.5). Ten of 18 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.

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Selected References

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  1. Chisari F. V. Hepatitis B virus transgenic mice: insights into the virus and the disease. Hepatology. 1995 Oct;22(4 Pt 1):1316–1325. doi: 10.1016/0270-9139(95)90645-2. [DOI] [PubMed] [Google Scholar]
  2. ERIKSSON S. PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN DEFICIENCY. Acta Med Scand. 1964 Feb;175:197–205. doi: 10.1111/j.0954-6820.1964.tb00567.x. [DOI] [PubMed] [Google Scholar]
  3. Eden E., Mitchell D., Mehlman B., Khouli H., Nejat M., Grieco M. H., Turino G. M. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency. Am J Respir Crit Care Med. 1997 Jul;156(1):68–74. doi: 10.1164/ajrccm.156.1.9508014. [DOI] [PubMed] [Google Scholar]
  4. Eriksson S., Carlson J., Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med. 1986 Mar 20;314(12):736–739. doi: 10.1056/NEJM198603203141202. [DOI] [PubMed] [Google Scholar]
  5. Ferris B. G. Epidemiology Standardization Project (American Thoracic Society). Am Rev Respir Dis. 1978 Dec;118(6 Pt 2):1–120. [PubMed] [Google Scholar]
  6. Kerstjens H. A., Rijcken B., Schouten J. P., Postma D. S. Decline of FEV1 by age and smoking status: facts, figures, and fallacies. Thorax. 1997 Sep;52(9):820–827. doi: 10.1136/thx.52.9.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Knudson R. J., Slatin R. C., Lebowitz M. D., Burrows B. The maximal expiratory flow-volume curve. Normal standards, variability, and effects of age. Am Rev Respir Dis. 1976 May;113(5):587–600. doi: 10.1164/arrd.1976.113.5.587. [DOI] [PubMed] [Google Scholar]
  8. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204(5):345–351. doi: 10.1111/j.0954-6820.1978.tb08452.x. [DOI] [PubMed] [Google Scholar]
  9. Lundbäck B. Epidemiology of rhinitis and asthma. Clin Exp Allergy. 1998 Jun;28 (Suppl 2):3–10. [PubMed] [Google Scholar]
  10. Mahadeva R., Lomas D. A. Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax. 1998 Jun;53(6):501–505. doi: 10.1136/thx.53.6.501. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Montnémery P., Adelroth E., Heuman K., Johannisson A., Johansson S. A., Lindholm L. H., Lundbäck B., Löfdahl C. G. Prevalence of obstructive lung diseases and respiratory symptoms in southern Sweden. Respir Med. 1998 Dec;92(12):1337–1345. doi: 10.1016/s0954-6111(98)90139-1. [DOI] [PubMed] [Google Scholar]
  12. Piitulainen E., Sveger T. Effect of environmental and clinical factors on lung function and respiratory symptoms in adolescents with alpha1-antitrypsin deficiency. Acta Paediatr. 1998 Nov;87(11):1120–1124. doi: 10.1080/080352598750031095. [DOI] [PubMed] [Google Scholar]
  13. Piitulainen E., Tornling G., Eriksson S. Effect of age and occupational exposure to airway irritants on lung function in non-smoking individuals with alpha 1-antitrypsin deficiency (PiZZ). Thorax. 1997 Mar;52(3):244–248. doi: 10.1136/thx.52.3.244. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Stoller J. K., Smith P., Yang P., Spray J. Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994 Nov-Dec;61(6):461–467. doi: 10.3949/ccjm.61.6.461. [DOI] [PubMed] [Google Scholar]
  15. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976 Jun 10;294(24):1316–1321. doi: 10.1056/NEJM197606102942404. [DOI] [PubMed] [Google Scholar]
  16. Sveger T., Piitulainen E., Arborelius M., Jr Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr. 1995 Jul;84(7):815–816. doi: 10.1111/j.1651-2227.1995.tb13765.x. [DOI] [PubMed] [Google Scholar]
  17. Sveger T., Piitulainen E., Arborelius M., Jr Lung function in adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr. 1994 Nov;83(11):1170–1173. doi: 10.1111/j.1651-2227.1994.tb18275.x. [DOI] [PubMed] [Google Scholar]

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