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1-Pi deficiency in patients with lung diseases
1 Dept of Pneumology, University Hospital, Ruhrlandklinik and 2 Gemeinschaftspraxis Marx, Gelsenkirchen, Germany. 3 Biological Products, Bayer Corporation, Research Triangle Park, NC and 4 Heredilab Inc., and Dept of Internal Medicine, University of Utah, UT, USA
CORRESPONDENCE: M. Wencker, Schinkelstr. 44, 80805 München, Germany. Fax: 49 8932307789. E-mail: mwencker@aol.com
Keywords: 
1-Pi deficiency asthma, chronic obstructive pulmonary disease, gene frequency, screening
Received: October 27, 2001
Accepted March 11, 2002
The study was supported by a grant from Bayer Corp., Research Triangle Park, NC, USA. E.J. Campbell's work was supported by PHS grant HL 46440.
In patients with pulmonary emphysema, studies have reported 2–3% of individuals with severe
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
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
1-Pi deficiency. The aims of this study were to evaluate the accuracy of a new method for quantifying 1-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 1-Pi deficiency. 1-Pi deficiency using DBS. 1-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 1-Pi deficiency.
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