Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Research Abstract Details 

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Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Abstract Text:

Robert Bals,Rembert Koczulla,Viktor Kotke,Juergen Andress,Karlheinz Blackert,Claus Vogelmeier,

BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is significantly underdiagnosed. The early detection of AATD would enable affected persons to make lifestyle changes such as quitting smoking. It was the aim of the study to determine whether the combination of an awareness program with the offer of a cost-free diagnostic test results in the identification of a significant number of individuals with severe AATD. METHODOLOGY: We combined a series of measures to promote awareness with the offer of a diagnostic test at no charge. Test blood was applied to a filter paper and sent to our laboratory. The level of AAT was measured by nephelometry, the presence of the S- or Z-allele was determined by PCR, and phenotyping was performed by isoelectric focusing. RESULTS: During 37 months 17688 testing kits were distributed and 2722 were sent back to our laboratory. We identified 335 patients with severe AATD including 16 individuals with rare genotypes. Prescreening by determining the AAT serum levels by the submitting physician increased the detection rate as compared to similar programs that screened unselected individuals. SUMMARY: These data show that the combination of an awareness program with the offer of free diagnostic testing results in the identification of a large number individuals with severe AATD.

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Publishing Authors By Initials

R Bals,R Koczulla,V Kotke,J Andress,K Blackert,C Vogelmeier,

For similar skin and connective tissue diseases: connective tissue diseases: alpha 1-antitrypsin deficiency research abstracts see: skin and connective tissue diseases: connective tissue diseases: alpha 1-antitrypsin deficiency research

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Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Respiratory medicine

VOLUME: 101

Page Numbers: 1708-14

Journal Abbreviation:

ISSN: 0954-6111

DAY: 10

MONTH: 04

YEAR: 2007

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Information

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LANGUAGE: eng

NlmUniqueID: 8908438

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Keywords Mesh Terms:

KEYWORDS: alpha 1-Antitrypsin Deficiency

MESH TERMS: genetics

Chemical & Substance for Abstract: Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Information

Substance Name: alpha 1-Antitrypsin

Registry Number: 0

Grant and Affiliation Information for Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.

AFFILIATION: Department of Internal Medicine, Division for Pulmonary Diseases, Hospital of the University of Marburg, Philipps-Universtät Marburg, Baldingerstrasse 1, 35043 Marburg, Germany. bals@staff.uni-marburg.de

Country: England

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MEDLINETA: Respir Med

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