Sex differences in alpha-1-antitrypsin deficiency lung disease-analysis from the German registry.
Alpha-1-antitrypsin deficiency (AATD) is a rare condition with clinical manifestations of the lung and the liver. There is evidence that the gender affects the clinical presentation of non-AATD chronic obstructive lung disease (COPD). The aim of this study was to analyze gender-dependent disease pattern in AATD-based COPD. Data from 1066 individuals from the German AATD registry were analyzed by descriptive and analytical statistics. The AAT genotypes comprised 820 individuals with PiZZ (male 56%, female 45%), 109 with PI SZ (male 55%; female 45%), and others (n = 137). A subgroup of 422 patients with available post-bronchodilator FEV1% predicted was analyzed in detail after stratification in spirometric GOLD stages I-IV. The age of the registered individuals is 52.2 ± 13.4 years (male: 51.91 ± 13.86 years; female: 52.76 ± 13.39 years). Female patients with GOLD I-IV showed lower numbers of pack-years and lower BMI. The time between the first symptom and the establishment of the correct diagnosis was significantly longer in female (14.47 ± 16.46 years) as compared to male individuals (12.39 ± - 14.38 years, p = 0.04). In conclusion, the data of the registry allow to characterize the natural course of the disease and highlight differences in the clinical presentation of patients with AATD-dependent COPD.
1Department of Internal Medicine V - Pulmonology, Allergology, Intensive Care Medicine, Saarland University Hospital , Homburg , Germany.
Sebastian
S
Fähndrich
Christian
C
Herr
Timm
T
Greulich
Martina
M
Seibert
Philipp M
PM
Lepper
Nikolas
N
Bernhard
Cindy
C
Lützow
Claus
C
Vogelmeier
Robert
R
Bals
D000328:Adult; D000368:Aged; D018450:Disease Progression; D005260:Female; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D012042:Registries; D012307:Risk Factors; D012737:Sex Factors; D013147:Spirometry; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics / Q000503:physiopathology
COPD; phenotype; rare disease; sex