title: Screening for alpha1-Pi deficiency in patients with lung diseases.
abstract: In patients with pulmonary emphysema, studies have reported 2-3% of individuals with severe alpha1-Pi deficiency. The aims of this study were to evaluate the accuracy of a new method for quantifying alpha1-Pi through phenotyping from dried blood spots (DBS) and to test the hypothesis that the screening of a population at risk increases the detection rate for severe alpha1-Pi deficiency. The accuracy of phenotyping results from DBS was compared to conventional methods in a total of 555 individuals. In a prospective study 1,060 patients with chronic lung disease were screened for alpha1-Pi deficiency using DBS. The validation of the phenotyping method from DBS showed an accuracy of 100%. Out of 1,060 tested patients, none had a severe PiZ deficiency and only 3 had PiSZ, whilst 36 (3.34%) individuals were identified as heterozygous for PiMS and 39 (3.68%) for PiMZ. No patients with severe alpha1-Pi deficiency could be detected in this population and the frequency of PiMS or PiMZ detected was similar to that of the normal population. Thus, the screening of an unselected population of chronic obstructive pulmonary disease and asthma patients may not detect a large number of individuals with severe alpha1-Pi deficiency.
authors.affiliation: Dept of Pneumology, University Hospital, Ruhrlandklinik, Gelsenkirchen, Germany. mwencker@aol.com
authors.forename: M
authors.initials: M
authors.lastname: Wencker
authors.forename: A
authors.initials: A
authors.lastname: Marx
authors.forename: N
authors.initials: N
authors.lastname: Konietzko
authors.forename: B
authors.initials: B
authors.lastname: Schaefer
authors.forename: E J
authors.initials: EJ
authors.lastname: Campbell
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008171:Lung Diseases / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics*