Resources for Physicians

Updated: June 30, 2009

Could their Asthma or COPD be hereditary?

Knowing that your patient has alpha-1 antitrypsin deficiency opens up a number of lifestyle and treatment options as well as avoidance of risk factors that can improve their quality of life.

Characteristics of A1AD

Alpha-1 antitrypsin deficiency (also known as A1AD, α1ATD, AATD) is characterized most commonly by COPD in adults and liver disease in children and adults. COPD, specifically emphysema, tends to occur much earlier and with less tobacco smoke exposure in individuals with alpha-1 antitrypsin deficiency; thus, it is commonly misdiagnosed as difficult-to-manage asthma. Smoking is the major factor influencing the course of COPD. The onset of respiratory disease in smokers with A1AD is between age 30 and 50 years; in non-smokers, the onset can be delayed to the sixth decade. Non-smokers often have a normal life span.

A1AD-associated liver disease, present in only a small portion of affected children, manifests as obstructive jaundice and raised serum aminotransferase levels in the early days and months of life.

The incidence of liver disease increases with age; liver disease in adults, manifests as cirrhosis and fibrosis, and is not necessarily associated with a history of neonatal liver disease.

Diagnosis and Testing

Management and Surveillance

Genetic Facts

Additional Resources