RT Journal Article
SR Electronic
T1 Differences of disease phenotypes in individuals with alpha-1-antitrypsin deficiency with genotypes PiZZ and PiSZ - Analysis from the German registry
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP PA4172
DO 10.1183/13993003.congress-2016.PA4172
VO 48
IS suppl 60
A1 Sebastian Fähndrich
A1 Nikolas Bernhard
A1 Philipp M. Lepper
A1 Claus Vogelmeier
A1 Robert Bals
YR 2016
UL http://erj.ersjournals.com/content/48/suppl_60/PA4172.abstract
AB Background: Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder that is associated with low levels of circulating alpha-1-antitrypsin in serum. The aim of the study was to identify differences between the genotypes PiZZ and PiSZ regarding the disease phenotypes including quality of life, exacerbation rate, rate of pneumonias and lung function.Methods: We compared PiZZ and PiSZ patients from the German registry for individuals with AATD in baseline characteristics and longitudinally by a follow-up period of 11 years. For the analysis, all subjects were stratified in three groups according to their cumulative nicotine consumption in packyears.Results: 868 PiZZ patients and 114 PiSZ patients with an average age of 52.6 ± 12.8 years (56.5% male; 43.5% female) in PiZZ and of 50.3 ± 17.4 years (53.5% male; 46.5% female) in PiSZ were compared. Significant differences between the genotypes could be observed in the group of never-smokers in SGRQ total score (PiZZ vs. PiSZ, p = 0.002), in all SGRQ sub-scores and in DLCO % pred. (PiZZ vs. PiSZ, p = 0.003). Exacerbation rate within the last two years significantly differed in patients with moderate nicotine consumption in packyears (PiZZ vs. PiSZ, p = 0.032). There was no significant difference in the exacerbation rate between individuals between PiZZ and PiSZ in the group of heavy (ex-) smokersConclusions: The differences between PiZZ and PiSZ in quality of life, rate of exacerbations or diffusion capacity are weakening with increasing number of packyears.