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Eur Respir J 2005; 26:616-622
Copyright ©ERS Journals Ltd 2005

Results of a case-detection programme for {alpha}1-antitrypsin deficiency in COPD patients

C. de la Roza1, F. Rodríguez-Frías2, B. Lara1, R. Vidal3, R. Jardí2 and M. Miravitlles1

1 Dept of Pneumology, Institut Clínic del Tòrax, Hospital Clínic (IDIBAPS), Red Respira (FIS-ISCIII-RTIC-03/11), and 2 Depts of Biochemistry and 3 Pneumology, Hospital Vall d'Hebron, Barcelona, Spain.

CORRESPONDENCE: M. Miravitlles, Dept of Pneumology, Hospital Clínic, C/ Villarroel 170 (UVIR, esc 2, planta 3), Barcelona 08036, Spain. Fax: 34 932275549. E-mail: marcm{at}clinic.ub.es

Keywords: {alpha}1-Antitrypsin deficiency, chronic obstructive pulmonary disease, diagnosis, genetics

Received: January 20, 2005
Accepted July 1, 2005

{alpha}1-Antitrypsin ({alpha}1-AT) deficiency is an underdiagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The present authors have conducted a nationwide case detection programme of {alpha}1-AT deficiency in unselected patients with COPD using dried blood spots.

The first phase analysed samples from 971 patients by determining {alpha}1-AT concentrations and identifying the deficient Z allele by genotyping using rapid real-time PCR. The second phase analysed 1,166 samples with {alpha}1-AT concentrations and identified both the S and the Z allele, but only in samples with low {alpha}1-AT concentrations.

A total of eight (0.37%) individuals with the severe deficiency PiZZ were detected. In addition, three patients were identified with the PiSZ genotype in the second phase (0.3%). The global cost of the programme was \#8364;41,512, which represents \#8364;19.42 per sample and \#8364;5,189 per PiZZ detected. A sensitivity analysis demonstrated that performing Z genotype to all samples would have resulted in increased costs of \#8364;28 per sample and \#8364;7,479.5 per PiZZ case identified.

In conclusion, a case detection programme of {alpha}1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood spots is feasible and at a reasonable cost per case detected. Diagnostic yield and costs depend largely on inclusion criteria and the protocol for processing of samples.




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