Alpha-1-antitrypsin deficiency

This code identifies a genetic disorder characterized by insufficient levels of alpha-1-antitrypsin (AAT), a protein that protects the lungs from inflammation caused by neutrophil elastase. The deficiency primarily affects the lungs, leading to conditions like emphysema, and can also impact the liver, causing cirrhosis.

Use this code when documentation confirms a diagnosis of alpha-1-antitrypsin deficiency, often identified through genetic testing or serum AAT levels. It is appropriate for patients presenting with early-onset emphysema, unexplained liver disease, or a family history of AAT deficiency.

• Ensure documentation specifies the deficiency, not just symptoms like emphysema, to support this diagnosis.
• Consider co-reporting with codes for associated conditions such as emphysema (e.g., 492.8) or liver disease (e.g., 571.5).
• This code represents the deficiency itself, not the treatment or screening for it.