E88.01 Alpha-1-antitrypsin deficiency

Name of the Condition

• Alpha-1-antitrypsin deficiency (AATD)
• Synonyms: A1AD, inherited emphysema

Summary

Alpha-1-antitrypsin deficiency is a genetic disorder that can lead to lung and liver disease. It occurs when the body doesn't produce enough alpha-1-antitrypsin (AAT), a protein that protects organs from damage caused by enzymes.

Causes

Alpha-1-antitrypsin deficiency is caused by mutations in the SERPINA1 gene, which are inherited in an autosomal co-dominant pattern, meaning two altered copies can increase risk for disease.

Risk Factors

• Family history of AATD
• Smoking can exacerbate symptoms
• Environmental pollutants or occupational dust

Symptoms

• Shortness of breath
• Wheezing
• Chronic cough
• Recurrent lung infections
• Unexplained liver dysfunction

Diagnosis

• Blood test to measure AAT levels
• Genetic testing for SERPINA1 mutations
• Pulmonary function tests
• Liver function tests

Treatment Options

• Augmentation therapy with AAT protein infusions to protect the lungs
• Medications like bronchodilators to ease breathing
• In advanced cases, lung or liver transplantation may be considered.

Prognosis and Follow-Up

• Prognosis varies; however, early diagnosis and management can improve outcomes.
• Regular monitoring of liver function and lung health is crucial.

Complications

• Untreated AATD can lead to emphysema or chronic obstructive pulmonary disease (COPD).
• Liver cirrhosis or liver failure may occur.

Lifestyle & Prevention

• Avoiding smoking and lung irritants
• Monitoring and managing any liver condition
• Regular exercise and a healthy diet to maintain lung health

When to Seek Professional Help

• Persistent respiratory symptoms
• Signs of liver disease, such as jaundice or abdominal swelling

Additional Resources

• American Lung Association: lung.org
• Alpha-1 Foundation: alpha1.org

Tips for Medical Coders

• Ensure correct sequencing of codes if AATD is presented alongside related conditions like emphysema or liver disease.
• Verify genetic diagnosis when coding for hereditary conditions.