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Alpha-1 Antitrypsin Deficiency
A genetic disease with significant underdiagnosis.
Alpha‑1 Antitrypsin Deficiency is a common inherited disorder characterized by a quantitative and/or qualitative deficiency of the protease inhibitor α1‑antitrypsin (AAT). Individuals with AAT deficiency are at increased risk of developing chronic obstructive pulmonary disease (COPD) and chronic liver disease.
What is Alpha-1 Antitrypsin Deficiency (AATD)?
The AAT gene is highly polymorphic, with more than 100 described variants in addition to the normal M allele. Among these, the S and Z alleles are the most common pathogenic forms, with the Z variant associated with the most severe clinical impact in individuals with alpha‑1 antitrypsin deficiency.
People carrying the MZ or MS genotypes are generally considered carriers and are not typically at increased risk for lung or liver disease. In contrast, individuals with ZZ or SZ genotypes are classified as AAT‑deficient, presenting moderate to severe deficiency and a significantly higher risk of clinical manifestations.
Alpha‑1 Antitrypsin Deficiency (AATD) is a rare hereditary disorder characterized by reduced levels of alpha‑1 antitrypsin, which can lead to serious lung and liver disease in both children and adults.
1/2,500
individuals with European ancestory are affected by AAT deficiency
90%
remain undiagnosed
3.4
million individuals are affected by AAT deficiency
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d) Balduyck M, Odou MF, Zerimech F, Porchet N, Lafitte JJ, Maitre B. Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy. Rev Mal Respir. 2014 Oct;31(8):729-45. doi: 10.1016/j.rmr.2014.06.001. Epub 2014 Jul 3. PMID: 25391508.
e) Akbas N, Gonzalez G, Buffone GJ, Grenache DG, Devaraj S. A Library of Rare α1-Antitrypsin (AAT) Variant Phenotypes to Aid in the Diagnosis of AAT Deficiency. Am J Clin Pathol. 2016 Sep;146(3):289-93. doi: 10.1093/ajcp/aqw112. PMID: 27543976.
f) Franciosi AN, Carroll TP, McElvaney NG. Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians. Lancet Respir Med. 2019 Dec;7(12):1059-1067. doi: 10.1016/S2213-2600(19)30141-9. Epub 2019 Jul 16. PMID: 31324540.
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