Laboratory testing of individuals with severe α1-antitrypsin deficiency in three European centres

M. Miravitlles, C. Herr, I. Ferrarotti, R. Jardi, F. Rodriguez-Frias, M. Luisetti, R. Bals

Research output: Contribution to journalArticlepeer-review


α1-Antitrypsin (AT) deficiency is a hereditary disorder that may lead to early-onset emphysema, and chronic liver disease later in life. Although there are validated methods for testing, the vast majority of α1-AT-deficient individuals remain undiagnosed. Recommendations have been published for the testing and diagnosis of α1-AT deficiency; however, guidelines on best practice are not well established. In our article, we review the developments in diagnostic techniques that have taken place in recent years, and describe the practices used in our three European centres. The determination of the level of α1-AT and genotyping are reported as the main diagnostic steps, whereas isoelectric focusing (also referred to as phenotyping) is reserved for confirmatory analysis. The following recommendations for best practice are put forward: detection of all PiZZ and other severe deficiency individuals; automated genotyping; preparation of reference standards; quality control programmes; development of standard operating procedure documents; and standardised methods for the collection of dried blood samples. Closer cooperation between laboratories and the sharing of knowledge are recommended, with the objectives of improving the efficiency of the diagnosis of severe α1-AT deficiency, increasing the numbers of individuals who are detected with the disorder, and assisting the establishment of new patient identification programmes. Copyright

Original languageEnglish
Pages (from-to)960-968
Number of pages9
JournalEuropean Respiratory Journal
Issue number5
Publication statusPublished - May 2010


  • α-antitrypsin deficiency
  • Algorithm
  • Chronic liver disease
  • Chronic obstructive pulmonary disease
  • Diagnostic procedures
  • Emphysema

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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