European screening for alpha1-antitrypsin deficiency in subjects with lung disease.
OBJECTIVE
Alpha1-antitrypsin deficiency (AATD) predisposes individuals to early-onset emphysema. Despite its prevalence, especially among patients with chronic obstructive pulmonary disease, AATD is still underdiagnosed. The aim of this study is to identify individuals with lung disease and severe AATD in central-eastern Europe.


METHODS
Subjects with respiratory symptoms that could be indicative of AATD provided blood samples as dried blood spot. The alpha1-antitrypsin (AAT) concentration was determined by nephelometry and, if lower than 1.70 mg/dL in dried blood spot (equivalent to 1.04 g/L in serum), polymerase chain reaction was used to detect the PiS and PiZ alleles. Isoelectric focusing was used for confirmation of doubtful genotype results.


RESULTS
From 13 countries, 11 648 subjects were included. Genotyping of 1404 samples with AAT levels <1.70 mg/dL revealed 71 (5.06%) PiS, 151 (10.8%) PiZ, 1 (0.071%) PiSS, 8 (0.57%) PiSZ and 32 (2.28%) PiZZ. Phenotyping of 1363 samples negative for the S and Z alleles or with PiS and PiZ genotype showed two (0.147%) PiZ(rare) and two (0.147%) Pi(null)(null). The countries with the highest rate of severe AATD were Croatia, Russia and Slovakia. By regions, the Baltic countries area showed the highest rate of both PiZ and severe AATD (2.45% and 1.20%, respectively) while the lowest rates were observed in the Balkan Peninsula (0.48% and 0.31%, respectively).


CONCLUSIONS
This study confirms the need for targeted testing of symptomatic patients and provides AATD genotype data from countries for which only some estimates of prevalence were available until now.
Department of Internal Medicine, Division for Pulmonary Diseases, Philipps-University Marburg, Marburg, Germany.
Timm
T
Greulich
Department of Pulmonology, Federal Research Clinical Center of Federal Medical & Biological Agency of the Russian Federation, Moscow, Russian Federation.
Alexander
A
Averyanov
Doctorat 'BINI', Ventspils, Latvia.
Ludmila
L
Borsa
Clinic of Pneumology and Phthisiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Bratislava, Slovakia.
Eva
E
Rozborilová
Diagnostic Department of Internal Medicine, Vilnius University Hospital Santariskiu Klinikos Center Affiliate, Vilnius, Lithuania.
Dalius
D
Vaicius
Pulmonological Service Provider, Kaposi Mór Teaching Hospital, Kaposvar, Hungary.
Tamás
T
Major
Department of Clinical Immunology and Allergology of L'viv Region Clinical Diagnostic Center, Danylo Halytsky Lviv National Medical University, L'viv, Ukraine.
Valentyna
V
Chopyak
Pneumology Clinic, Victor Babes Hospital, Timisoara, Romania.
Voicu
V
Tudorache
District Dispensary for Pulmonary - Phthisis Diseases, Hospital Saint Ivan Rilski, Blagoevgrad, Bulgaria.
Tatyana
T
Konstantinova
Clinical Department, Instituto Grifols S.A., Barcelona, Spain.
Sandra
S
Camprubí
D000328:Adult; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D008171:Lung Diseases / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D009391:Nephelometry and Turbidimetry; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology
D000515:alpha 1-Antitrypsin
COPD; alpha1-antitrypsin; dried blood spot; epidemiology; screening