Health A-Z

Familial emphysema, also known as alpha-1 antitrypsin deficiency (AATD), is a genetic condition that affects the lungs and liver. Here's an overview of its symptoms, diagnosis, testing, and treatment.

1. Respiratory Symptoms:

   • Shortness of breath, especially during physical activity
   • Wheezing
   • Chronic cough
   • Recurring respiratory infections
   • Barrel-shaped chest due to lung hyperinflation

2. Liver Symptoms:

   • Jaundice (yellowing of the skin and eyes)
   • Enlarged liver or spleen
   • Abdominal swelling or pain
   • Elevated liver enzymes

1. Symptomatic Management:

   • Bronchodilators to relieve airway constriction and improve breathing.
   • Inhaled corticosteroids to reduce inflammation in the airways.
   • Antibiotics for treating respiratory infections.
   • Oxygen therapy for advanced cases to alleviate hypoxemia.

2. Augmentation Therapy:

   • Infusion of purified alpha-1 antitrypsin protein derived from human plasma.
   • This therapy aims to raise AAT levels in the blood and protect the lungs from damage.

3. Pulmonary Rehabilitation:

   • Exercise programs to improve lung function and overall physical conditioning.
   • Nutritional counseling to maintain a healthy weight and support respiratory health.

4. Liver Disease Management:

   • Management of liver complications, such as cirrhosis or liver failure, if present.
   • Liver transplant may be considered in severe cases of liver disease.

5. Smoking Cessation:

   • Avoidance of smoking and exposure to environmental pollutants to prevent further lung damage.

6. Genetic Counseling:

   • Counseling for affected individuals and their families regarding the inheritance pattern and risk of passing the condition to future generations.

1. Blood Tests:

   • Measurement of alpha-1 antitrypsin (AAT) levels in the blood.
   • Genetic testing to identify mutations in the SERPINA1 gene, which encodes AAT.

2. Lung Function Tests:

   • Pulmonary function tests (PFTs) to assess lung capacity, airflow, and gas exchange.
   • Chest X-rays or CT scans to visualize lung damage.

3. Liver Function Tests:

   • Blood tests to measure liver enzyme levels and assess liver function.