PT  - JOURNAL ARTICLE
AU  - Claudia Guttmann
AU  - Philipp M. Lepper
AU  - Monika Bachhuber
AU  - Christian Herr
AU  - A. Rembert Koczulla
AU  - Claus Vogelmeier
AU  - Robert Bals
TI  - Alpha1-antitrypsin deficiency: An analysis of patient subgroups of the German registry
DP  - 2011 Sep 01
TA  - European Respiratory Journal
PG  - p3596
VI  - 38
IP  - Suppl 55
4099  - http://erj.ersjournals.com/content/38/Suppl_55/p3596.short
4100  - http://erj.ersjournals.com/content/38/Suppl_55/p3596.full
SO  - Eur Respir J2011 Sep 01; 38
AB  - Objective: Alpha1-antitrypsin deficiency (AATD) is a rare hereditary disorder that affects liver and lung. The German AATD Registry includes patients with severe AATD. In this analysis, epidemiological, clinical and gender specific findings of the german AATD patients are analyzed. STUDY: Retrospective, population based study. AAT serum levels and genotypes, pulmonary function testing and various parameters including a St. Georges questionnaire, were recorded.Results: A total of 713 adult (431 (60.3%) male, 278 (38.9%) female) patients with severe AATD, identified by genotyping, (568 patients with genotype PiZZ and 63 with PiSZ) were registered (82 patients with other genotypes). Mean AAT serum levels were 33.20±21.29 mg/dL. Most patients were smokers or ex-smokers (total 706 patients, 515 Smokers (72.3%; 66.2% male and 33.8% female) and 189 non-smokers (26.8%) who developed symptoms at the end of their third decade (mean age: 39.9 years, female: 39.9±12.9 years; male 40.0±11.6 years). In 88.7% specific lung symptoms led to final diagnosis. In 95.4% the final diagnosis led to smoking cessation. Most patients are affected by COPD (GOLD I = 7.7% (87% male and 13% female), II = 22.8% (53% male and 47% female), III = 27.3% (67% male and 33% female), IV = 15.3% (75% male and 25% female). 392 subjects receive substitution therapy. Cigarette smoking, and dust exposure are additional risk factors for early progression of COPD.Conclusion: AATD is a rare condition however leads to significant morbidity in affected subjects. There were marked differences between COPD stage, with a clear predominance of higher COPD stages in men, but no differences in AAT serum levels between male and female patients.