Abstract
I: Alpha1-antitrypsin (AAT) deficiency is a hereditary disease characterized by decreased serum concentration of AAT. In most countries there is no strict epidemiological data for AAT deficiency, so the worldwide prevalence is unknown.
A: Evaluation and characterization of the population tested for AAT deficiency during 9 yrs (2006-2015) by a reference laboratory in Portugal.
M: Data from patients whose samples (blood/plasma) were sent to IPATIMUP (private non-profit laboratory of public utility) was retrospectively analysed.
R: 1684 patients were evaluated, 58.8% male and 59.6% ≥18yrs old. The average number of requests was 187.1/yr and came from Pulmonology 35.6%, Paediatrics 33.2%, General Practice 5.5% and 17.9% came from family screening.
25.4% patients were PI*MZ, 23.5% PI*MM, 15.5% PI*MS, 11.1% PI*SZ, 9.5% PI*ZZ, 0.4% PI*ZQ0 and 0.30% PI*Q0Q0.
Different types of rare deficiency and null alleles were detected: PI*Mmalton (n=59), PI*Q0Ourem (n=28), PI*PIowell (n=21), PI*I (n=17), PI*Mwürzburg (n=6), PI*Mheerlen (n=6), PI*T (n=4), PI*Q0Madrid (n=2), PI*Zaugsburg (n=2) and PI*Q0Lisboa (n=1). The authors emphasize the identification of four alleles that have not been described yet: PI*PGaia, PI*Q0Oliveira do Douro, PI*Q0Vila Real and PI*SGaia identified in 2009, 2012, 2013 and 2015, respectively.
C: A high detection of severe AAT deficiency was found, along with several number of rare and null alleles, some of which were not described yet. The existence of national reference laboratories, especially dedicated to the diagnosis of AAT deficiency, a national registry and guidelines will improve the detection rate, essential to the knowledge of the epidemiology, allowing early intervention.
- Copyright ©the authors 2016