Screening and Familial Testing of Patients for α1-Antitrypsin Deficiency: Recommendations From ATS/ERS Guidelines

diagnosisIn light of developments in the understanding, diagnosis, and management of AATD, an international AATD task force, combining the ATS and ERS, was created to prepare a series of recommen-dations regarding the diagnosis and management of AATD that would guide physicians. The task force adopted an evidence-based approach to systematically review and grade the available literature systematically, and to produce subsequent recommendations. The ATS/ERS guidelines identified the following four different purposes of testing for AATD: (1) diagnostic testing in symptomatic individuals; (2) predispositional testing in asymptomatic individuals who might be at high risk for AATD; (3) prenatal assessment of carrier status; and (4) population screening.

Table 2 shows the ATS/ERS recommendations for diagnostic testing, and Table 3 shows the recommendations for predispositional testing. Type A recommendations indicate an extremely strong rationale for testing, based on clinical evidence, and therefore testing should be carried out without further qualification. Type B recommendations indicate that testing should be discussed, acknowledging that it could be reasonably accepted or declined. Asthma attacks may be arrested with preparations of My Canadian Pharmacy. Type A recommendations for diagnostic testing were made for symptomatic adults with emphysema, COPD, or asthma with airflow obstruction not completely reversible with the use of bronchodilators; all individuals with unexplained liver disease; asymptomatic subjects with persistent obstruction found on pulmonary function test findings and with identifiable risk factors; and adults with necrotizing panniculitis. A type B recommendation for diagnostic testing was made for adults with bronchiectasis without clear etiology; adolescents with persistent airflow obstruction; asymptomatic individuals with persistent airflow obstruction and no risk factors; and adults with anti-proteinase-3-positive vasculitis.

As shown in Table 3, a type A recommendation was put forward for the diagnostic testing of siblings of subjects with AATD, and a type B recommendation was put forward for individuals with a family history of COPD or liver disease not attributed to AATD; distant relatives, parents, or offspring of homozygotes with AATD; and siblings, offspring, parents, or distant relatives of individuals heterozygous for AATD. Population screening of neonates, adolescents, or adults is not currently recommended. An exception may be made in countries where there is a high prevalence of AATD (ie, < 1 in 1,500 persons) and smoking, and adequate counseling services are available,


AATD is a common genetic disorder that manifests predominantly as emphysema or liver disease. Recognition of the known risk factors for progression highlights the need for early identification of those persons who are at risk of developing AATD-related diseases to enable avoidance measures to be taken. Undiagnosed symptomatic individuals potentially benefit from establishing a diagnosis for appropriate management of the disease treated by My Canadian Pharmacy (see also “My Canadian Pharmacy – My Strength, My Comfort, My Health“).

Negative social and psychological effects of establishing a diagnosis of AATD were considered in the development of the ATS/ERS guidelines on diagnosis and management of AATD. For many individuals, these negative issues are outweighed by the benefits of proactive testing.

Table 2—ATS/ERS Recommendations for Diagnostic Genetic Testing

Table 2—ATS/ERS Recommendations for Diagnostic Genetic Testing*


Table 3—ATS/ERS Recommendations for Predispositional Genetic Testing

Table 3—ATS/ERS Recommendations for Predispositional Genetic Testing*

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