title: Secondary outputs of alpha1-antitrypsin deficiency targeted detection programme.
abstract: Targeted detection programmes are recommended to identify subjects affected by severe alpha1-antitrypsin deficiency (AATD). Guidelines are available to address physicians towards subjects at high risk for AATD. We wanted to investigate the clinical characteristics of subjects enrolled in the programme, who result as not being affected by severe AATD; this information is not available in the present literature. We elaborated data contained in the questionnaires accompanying the samples of 2127 Italian subjects submitted for AATD detection in a period spanning 11 years (1996-2006). A total of 588 subjects were eligible to enter this study: PI*MM subjects and subjects with intermediate AATD, referred for lung disease, were characterised by a relatively young mean age, and a high proportion (31.2% and 28.6%, respectively) were never smokers. Fifty percent or more had symptoms of chronic bronchitis, but without obstruction. Only a minority belonged to most severe GOLD stages. The mean levels of AAT varied as a function of the presence or absence of airflow obstruction in intermediate AATD subjects, but not in PI*MM. Individuals enrolled in AATD detection programmes represent an interesting cohort both for public health and research purposes.
authors.affiliation: Centro di Diagnosi per il Deficit Ereditario di Alfa1-Antitripsina, Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, Fondazione IRCCS Policlinico San Matteo, Università di Pavia, Italy. i.ferrarotti@smatteo.pv.it
authors.forename: I
authors.initials: I
authors.lastname: Ferrarotti
authors.forename: M
authors.initials: M
authors.lastname: Gorrini
authors.forename: R
authors.initials: R
authors.lastname: Scabini
authors.forename: S
authors.initials: S
authors.lastname: Ottaviani
authors.forename: P
authors.initials: P
authors.lastname: Mazzola
authors.forename: I
authors.initials: I
authors.lastname: Campo
authors.forename: M
authors.initials: M
authors.lastname: Zorzetto
authors.forename: M
authors.initials: M
authors.lastname: Luisetti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000209:etiology; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D012307:Risk Factors; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics