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Clinical Chemistry 54: 1398-1399, 2008; 10.1373/clinchem.2008.109850
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(Clinical Chemistry. 2008;54:1398-1399.)
© 2008 American Association for Clinical Chemistry, Inc.

Clinical Case Study

Commentary

Morten Dahl

Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University, Denmark.

Address correspondence to this author at: Department of Clinical Biochemistry, Herlev Hospital, DK-2730 Herlev, Denmark. E-mail mordah02{at}heh.regionh.dk.

It is estimated that there are at least 100 000 individuals with {alpha}1-antitrypsin (A1AT) deficiency in the US, but only 6000 of these had been identified by 2006 (1). If the diagnosis rate increases in the future, prevention could become a promising alternative to treatment of the disease. Guidelines from the American Thoracic Society and European Respiratory Society already indicate which features should alert clinicians that a patient may be more likely to have A1AT deficiency. Snyder and Fantz report a case of A1AT deficiency identified in a patient with unexplained liver disease, a situation for which testing for A1AT deficiency is strongly recommended. Other situations for which testing for A1AT deficiency is strongly recommended include the presence of persistent airway obstruction or necrotizing panniculitis. Siblings of individuals with A1AT deficiency should also be tested. Whereas Snyder and Fantz report testing targeted to a certain patient type, Zorzetto and colleagues, whose report also appears in this issue of Clinical Chemistry, describe their large-scale screening for A1AT deficiency in 1399 Swiss individuals from the general population (2). Zorzetto et al. successfully identified one individual with severe ZZ A1AT deficiency and 154 individuals with SZ and MZ who had intermediate deficiencies. Testing for A1AT deficiency typically involves measurement of serum A1AT concentrations combined with genotyping for the common S and Z alleles by melting curve analysis (3), restriction-fragment length polymorphism PCR, or another assay. When serum A1AT and genotyping results are discordant, subsequent DNA sequencing or isoelectric focusing is often needed. Alternatively, direct sequencing can be performed on specimens with A1AT concentrations <1 g/L (4). Ideally the reports by Snyder and Fantz and Zorzetto et al. will help promote diagnosis in individuals with unrecognized A1AT deficiency so they may receive counseling and therapy when necessary.


Acknowledgments

Grant/Funding Support: M. Dahl is supported by the Danish Lung Association and the Danish Heart Foundation.

Financial Disclosures: None declared.


References

  1. Brantly M. Efficient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin deficiency: the promise of early diagnosis and intervention. Clin Chem 2006;52:2180-2181.[Free Full Text]
  2. Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, et al. SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 2008;[Please supply the correct reference for this article to be published in the same issue as this commentary].
  3. Snyder MR, Katzmann JA, Butz ML, Wiley C, Yang P, Dawson DB, et al. Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping. Clin Chem 2006;52:2236-2242.[Abstract/Free Full Text]
  4. Prins J, van der Meijden BB, Kraaijenhagen RJ, Wielders JP. Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles. Clin Chem 2008;54:101-107.[Abstract/Free Full Text]




This Article
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