Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Alpha-1 antitrypsin deficiency (AATD) Lansdale: HAYES, Inc.. Healthcare Technology Brief Publication. 2014 Authors' objectives Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that occurs due to abnormalities in the production of alpha-1-antitrypsin (AAT). The most common clinical conditions associated with AATD are chronic obstructive pulmonary disease (COPD) and liver disease. AAT is encoded by the serpin peptidase inhibitor, clade A (alpha-1 antiprotease, antitrypsin), member 1 (SERPINA1) gene with the normal variant M and 2 main deficiency variants Z and S. The Z variant is associated with severe AATD. The number of carriers of AAT deficiency variants is estimated to be 116 million worldwide, and severe AATD is estimated to be present in 1.1 million individuals. The highest prevalence of AATD is observed in individuals of European ancestry. AATD is diagnosed based on clinical criteria, including presence of COPD or liver disease, in addition to use of laboratory methods such as estimation of AAT levels, molecular genetic testing, and protein testing. In most
laboratories, these testing methods are used in combination with one another either simultaneously or in series to improve accuracy of AATD diagnosis. The current report evaluates evidence for AATD testing using methods that detect Z and S variants, including polymerase chain reaction (PCR)-based methods and isoelectric focusing (IEF). Various applications of S and Z variant and phenotype testing are assessed, including presence of these variants and phenotypes in patients with COPD or liver disease, population screening, prenatal diagnosis, and augmentation therapy response. Indexing Status Subject indexing assigned by CRD MeSH alpha 1-Antitrypsin Deficiencys Language Published English Country of organisation United States English summary An English language summary is available. Address for correspondence HAYES, Inc., 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218 Email: hayesinfo@hayesinc.com AccessionNumber 32014000965 Date abstract record published 06/08/2014 |
