HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Permissions Request Permissions Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via ISI Web of Science (5) Citing Articles via Google Scholar Google Scholar Articles by de la Roza, C. Articles by Miravitlles, M. Search for Related Content PubMed PubMed Citation Articles by de la Roza, C. Articles by Miravitlles, M.

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

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: ₁-Antitrypsin deficiency, chronic obstructive pulmonary disease, diagnosis, genetics

Received: January 20, 2005
Accepted July 1, 2005

₁-Antitrypsin (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 ₁-AT deficiency in unselected patients with COPD using dried blood spots.

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

This article has been cited by other articles:

				J. K. Stoller and L. S. Aboussouan Myths and Misconceptions About {alpha}1-Antitrypsin Deficiency Arch Intern Med, March 23, 2009; 169(6): 546 - 550. [Full Text] [PDF]

				G. Tirado-Conde, B. Lara, and M. Miravitlles Augmentation therapy for emphysema due to alpha-1-antitrypsin deficiency Therapeutic Advances in Respiratory Disease, February 1, 2008; 2(1): 13 - 21. [Abstract] [PDF]

				J. Stolk Case detection of {alpha}1-antitrypsin deficiency: does it help the patient or the doctor? Eur. Respir. J., October 1, 2005; 26(4): 561 - 562. [Full Text] [PDF]