E88.01
BillableAlpha-1-antitrypsin deficiency
HCC Category Mapping
V28HCC 50 — Glycogen/Amino-Acid/Other Metabolic Disorders
0.289V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 40 — Alpha-1-Antitrypsin Deficiency
0.000What This Code Means
A genetic condition where the body doesn't produce enough alpha-1-antitrypsin, a protein that protects the lungs and liver from damage.
Coding Tips
- •Verify if this is the primary diagnosis or secondary to lung/liver disease; document any associated COPD or emphysema separately
- •Check for family history documentation and whether genetic testing was performed to confirm the deficiency
Clinical Significance
Alpha-1-antitrypsin deficiency is a genetic condition predisposing patients to early-onset emphysema and liver disease. It is significantly underdiagnosed, with many patients coded only for COPD without recognition of the underlying genetic cause. Capturing this code ensures appropriate augmentation therapy consideration and genetic counseling.
Documentation Requirements
- ✓Confirmed alpha-1-antitrypsin deficiency diagnosis
- ✓Alpha-1-antitrypsin serum level (typically < 11 micromol/L)
- ✓Genotype/phenotype documented (ZZ, SZ, MZ, etc.)
- ✓Associated conditions documented (emphysema, liver disease, panniculitis)
- ✓Current treatment (augmentation therapy with IV alpha-1 proteinase inhibitor)
- ✓Pulmonary function testing and liver function assessment
Commonly Confused Codes
J43.9 — Emphysema, unspecified: may be caused by alpha-1 deficiency but does not capture the underlying genetic causeJ44.1 — Chronic obstructive pulmonary disease with acute exacerbation: COPD from any cause, does not specify alpha-1K74.69 — Other cirrhosis of liver: may result from alpha-1 but does not capture the metabolic causeE88.09 — Other disorders of plasma-protein metabolism: different protein metabolism disorders