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Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres
M Miravitlles1, C Herr, I Ferrarotti
1Fundació Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, CIBER de Enfermedades Respiratorias, Barcelona, Spain.
Insights
Alpha-1 antitrypsin (AT) deficiency is an inherited condition often missed. This review proposes best practices for diagnosis to improve detection rates and patient identification programs.
Area of Science:
- Genetics
- Pulmonology
- Hepatology
Background:
- Alpha-1 antitrypsin (AT) deficiency is a hereditary disorder linked to early-onset emphysema and chronic liver disease.
- Despite available testing, most individuals with AT deficiency remain undiagnosed, highlighting a gap in current diagnostic practices.
- Existing recommendations for AT deficiency testing and diagnosis lack established best practice guidelines.
Purpose of the Study:
- To review recent advancements in diagnostic techniques for alpha-1 AT deficiency.
- To describe current diagnostic practices across three European centers.
- To propose recommendations for best practices in diagnosing alpha-1 AT deficiency.
Main Methods:
- Review of recent developments in diagnostic techniques for alpha-1 AT deficiency.
- Description of diagnostic practices, including alpha-1 AT level determination and genotyping, used in three European centers.
- Isoelectric focusing (phenotyping) utilized for confirmatory analysis.
Main Results:
- Alpha-1 AT level determination and genotyping are primary diagnostic steps.
- Isoelectric focusing serves as a confirmatory analysis.
- Key recommendations include detection of severe deficiency types (PiZZ), automated genotyping, reference standards, quality control, SOPs, and standardized dried blood sample collection.
Conclusions:
- Improved diagnostic efficiency and increased detection of alpha-1 AT deficiency are achievable through standardized best practices.
- Enhanced laboratory cooperation and knowledge sharing are crucial for improving diagnosis and patient identification.
- Implementing these recommendations will aid in establishing new patient identification programs for alpha-1 AT deficiency.
Abstract:
alpha(1)-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 alpha(1)-AT-deficient individuals remain undiagnosed. Recommendations have been published for the testing and diagnosis of alpha( 1)-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 alpha(1)-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 alpha(1)-AT deficiency, increasing the numbers of individuals who are detected with the disorder, and assisting the establishment of new patient identification programmes.
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