Open AccessE uropean screening for alpha 1 ‐antitrypsin deficiency in subjects with lung disease
Author(s) -
Greulich Timm,
Averyanov Alexander,
Borsa Ludmila,
Rozborilová Eva,
Vaicius Dalius,
Major Tamás,
Chopyak Valentyna,
Tudorache Voicu,
Konstantinova Tatyana,
Camprubí Sandra
Publication year - 2017
Publication title -
the clinical respiratory journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.789
H-Index - 33
eISSN - 1752-699X
pISSN - 1752-6981
DOI - 10.1111/crj.12310
Subject(s) - medicine , dried blood spot , alpha 1 antitrypsin deficiency , genotyping , genotype , copd , allele , disease , gastroenterology , gene , genetics , biology
Background and Aims Alpha 1 ‐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 E urope. Methods Subjects with respiratory symptoms that could be indicative of AATD provided blood samples as dried blood spot. The alpha 1 ‐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%) P i(null)(null). The countries with the highest rate of severe AATD were C roatia, R ussia and S lovakia. 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 B alkan Peninsula (0.48% and 0.31%, respectively). Conclusion 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.