What is it?
Alpha 1-Antitrypsin Deficiency is an inherited genetic condition where a person has low blood levels of a protein known as the alpha-1 antitrypsin protease inhibitor (called Alpha-1 PI or AAT). Alpha 1-Antitrypsin Deficiency causes an increased risk of chronic obstructive pulmonary disease (COPD) in the form of emphysema and, less frequently other diseases. It is often misdiagnosed, but a blood test can confirm the condition.
What causes it?
• Genetic inheritance from both parents.
• Smoking is not a cause, but can accelerate the prevalence of emphysema symptoms.
What are we doing about it?
The Institute for Respiratory Health’s research programs explore new ways to prevent Alpha 1-Antitrypsin Deficiency, and better understand and improve its diagnosis and management. Click on the boxes on the right to find out more.