PT  - JOURNAL ARTICLE
AU  - Kay Roy
AU  - Donna Cummins
AU  - Karl Sylvester
AU  - Ravi Mahadeva
TI  - Heterogeneity in lung function of PiZZ alpha 1 antitrypsin deficiency: Impact of occupation in predicting disease severity
DP  - 2014 Sep 01
TA  - European Respiratory Journal
PG  - P3961
VI  - 44
IP  - Suppl 58
4099  - http://erj.ersjournals.com/content/44/Suppl_58/P3961.short
4100  - http://erj.ersjournals.com/content/44/Suppl_58/P3961.full
SO  - Eur Respir J2014 Sep 01; 44
AB  - IntroductionAlpha 1 antitrypsin deficiency remains under-recognised and mostly undiagnosed. PiZZ phenotype exhibits heterogeneity and is associated with severe emphysema and hepatic cirrhosis. Gene-environment interactions may determine distinct clinical phenotypes amenable to individualised treatments. AimTo characterise a young PiZZ cohort by comorbidities and airway physiology and explore the impact of environmental factors on disease severity. Methods41 PiZZ patients age range 16-55 years (mean 47) were identified from our local database. Occupational and past medical history and lung physiology data were reviewed.Results6 had liver disease (8 underwent liver biopsy) of whom only 2 had a history of alcohol excess. 3 patients had bronchiectasis, 1 Wegeners and 1 had asthma.20 had an affected first or second degree relative. Patients with a positive smoking history (Sm+) (current and ex smokers with over 10 pack years) plus occupational exposure (Occ+) to dust and particles had significantly lower FEV1 % predicted compared to those with neither smoking (Sm-) or significant occupational history (Occ-); mean(95% CI) of 41.4 (18.3 - 64.6) versus 87.5 (53.9 - 121.2), P= 0.0123.Conclusion In our population of young PiZZ patients a combination of smoking history and occupational exposure is particularly detrimental to lung function. Appropriate counseling is indicated.