Screening

General population

As AAT deficiency is incurable, and many patients (especially non-smokers) have normal lifespans, AAT deficiency is not routinely screened for.[6][38][58]

Neonatal screening can improve modifiable risks such as smoking, but can also adversely affect parental stress and parent-child relationships.[8][10]

Predispositional testing

Genetic counselling and screening is recommended for adult siblings of individuals with an abnormal AAT variant, whether heterozygous or homozygous.[38] Children, parents, and distant relatives should receive genetic counselling and have screening discussed, but may reasonably accept or refuse screening. 

Carrier testing in a reproductive setting

Genetic screening should be discussed with individuals at high risk of AAT deficiency, and with partners of those with AAT deficiency.[6]

Chronic obstructive pulmonary disease

Testing for AAT deficiency should be performed in all patients with COPD.[38][59]

Asthma

The relationship between asthma and AAT deficiency is unclear, and screening recommendations vary.[8][9][10][38][39]

The American Thoracic Society/European Respiratory Society recommendations suggest screening patients with asthma who have persistent airflow obstruction despite aggressive bronchodilator therapy.[6] The WHO recommends all patients with adult-onset asthma be tested for AAT deficiency.[8][43]

One suggested algorithm for AAT deficiency screening in asthma recommends genotyping for S and Z alleles first. If either is detected, then serum AAT measurement should be performed.[60]

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