SNP: single nucleotide polymorphism; AAT: alpha-1 antitrypsin; AATD: alpha-1 antitrypsin deficiency; CLIA: Clinical Laboratory Improvement Amendments; COPD: chronic obstructive pulmonary disease; PFTs: pulmonary function tests; CBC: complete blood count.
* Adequate testing depends on the individual's family history and personal history.¶ Specialists include pulmonologists, hepatologists, genetics professionals, and others. The choice among them depends on:
Δ Management includes regular PFTs every 6 to 12 months, liver biochemical tests and CBC with platelet count every 6 to 12 months, liver elastography and possible ultrasound, as well as other assessments as appropriate to clinical status. Refer to UpToDate for details of the evaluation and management of AATD.
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