According to the 2003 American Thoracic Society (ATS)/European Respiratory Society (ERS) medical guidelines, genetic testing is recommended for: Full siblings of individuals with alpha-1 antitrypsin deficiency (AATD); any adult with chronic obstructive pulmonary disease (COPD), emphysema, or incompletely reversible asthma; adults without symptoms but with persistent obstruction and risk factors; Adults with necrotizing panniculitis; Anyone with unexplained liver disease.
According to the 2003 ATS/ERS Guidelines, genetic testing should be considered for: Parent, child or more distant relative of someone with one or more abnormal SERPINA1 genes; Partner of an affected or carrier with AATD; People with a family history of COPD or liver disease not known to be AATD-related; Adolescents with persistent airflow obstruction; Symptomatic adults in countries with lower AATD incidence.
Other Questions About Alpha-1-antitrypsin deficiency
- Will I die from alpha-1 antitrypsin deficiency?
- Who should be tested for alpha-1 antitrypsin deficiency?
- Who else should be tested for alpha-1 antitrypsin deficiency?
- Where do I find a center of excellence for alpha-1 antitrypsin deficiency?
- Where can I find other people with alpha-1 antitrypsin deficiency?
