Alpha-1-antitrypsin deficiency

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

Use this code for patients diagnosed with alpha-1-antitrypsin deficiency, regardless of whether they are symptomatic or have developed associated conditions. Documentation should clearly state the diagnosis of AAT deficiency, often confirmed by genetic testing or serum AAT levels.

• Do not confuse with other genetic metabolic disorders; this code is specific to AAT deficiency.
• Sequence this code as a primary diagnosis when the AAT deficiency is the reason for the encounter or as a secondary diagnosis when managing associated conditions.
• Ensure documentation specifies the type of AAT deficiency (e.g., PiZZ, PiMZ) if known, though this code does not differentiate by genotype.