Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD.
BACKGROUND
Alpha1-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD.


METHODS
A nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing.


RESULTS
Mean age and FEV(1) were 62.0 (10.3) and 54.7% (10.9), respectively. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were identified. Calculated PI(*)S and PI(*)Z frequencies, expressed in per 1000, were 18.8 (95% CI: 13.9-25) and 25.3 (95% CI: 19.4-32.7), respectively. The calculated AAT gene prevalence (Hardy-Weinberg principle) was: 1/1.09 for MM, 1/28 for MS, 1/2814 for SS, 1/20 for MZ, 1/1049 for SZ and 1/1565 for ZZ. Calculated Odds ratio (OR) for PI(*)Z in COPD vs. Lithuanian healthy people was of 1.87 (P=0.004).


CONCLUSIONS
The OR for each genotypic class demonstrated a significant increase of MZ, SZ and ZZ genotypes in COPD patients. The results of the present study, with a significant number of ZZ individuals detected, support the general concept of targeted screening for AAT deficiency in countries like Lithuania, with a large population of COPD patients and low awareness among care-givers about this genetic condition.
Sitkauskiene
Brigita
B
Department of Pulmonology and Immunology, Kaunas University of Medicine, Eiveniu 2, LT-50009, Kaunas, Lithuania.
Serapinas
Danielius
D
Blanco
Ignacio
I
Fernández-Bustillo
Enrique
E
Janciauskiene
Sabina
S
Sakalauskas
Raimundas
R
D000368:Aged; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008097:Lithuania; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D029424:Pulmonary Disease, Chronic Obstructive / Q000150:complications* / Q000235:genetics; D012720:Severity of Illness Index; D012737:Sex Factors; D013147:Spirometry / Q000379:methods; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000235:genetics
D000515:alpha 1-Antitrypsin