TABLE 1

Testing for α1-antitrypsin deficiency (AATD) and the estimated number of cases in Europe

National AATD treatment infrastructureEstimated number of diagnosed AATD cases versus overall number of severe deficiency carriers
Nationwide active screening programmeTreatment centres with >10 patients nEstimated diagnosed severe AATD cases nIndividuals with severe AATD genotype#
Based on epidemiological studies [17]Mathematically derived [18]
AustriaNo≥52501435 (607–3318)1529 (646–3536)
BelgiumNo31002896 (1583–5249)2917
Czech RepublicNo170N/DN/D
FranceNo≥5≥10009982 (7662–12 989)17 191 (13 255–22 270)
GermanyNo≥5≥10008003 (5520–11 577)20 611 (13 380–31 626)
HungaryYes0≤50458 (149–1352)N/D
IrelandYes0300N/D2265 (1264–4019)
ItalyNo150015 659 (2864–19 150)10 652 (7046–16 049)
The NetherlandsNo15001711 (976–2980)5353 (3057–9298)
PolandYes1100662 (421–1039)6791 (4395–10 454)
PortugalNo31502005 (1054–3774)4944 (2403–10 004)
SpainYes465012 045 (7801–18 522)14 522 (9405–22 331)
UKNo321008588 (5906–12 458)+England: 11 939 (7729–18 360)
Scotland: 344 (182–644)

Data are presented as n (95% CI), unless otherwise stated. N/D: no data. #: PI*ZZ genotype only; : averaged response from two respondents; +: not including Wales.