E88.01 Alpha-1-antitrypsin deficiency

ICD10CM code

#### 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](https://www.lung.org)
- Alpha-1 Foundation: [alpha1.org](http://www.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.

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