Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that can cause liver and lung disease in children and adults. AAT is a protein that is made in the liver. It works to protect the lungs and liver. AAT deficiency means there is not enough of this protein in the body. AAT deficiency is most common among Caucasians.

CAUSES

Alpha-1 antitrypsin deficiency is passed from parent to child (inherited). Under normal conditions, the liver makes AAT and releases it into the bloodstream. When there is an AAT deficiency, people have none or very little of this protein.

SYMPTOMS

  • Shortness of breath.

  • Wheezing or non-responsive asthma.

  • Coughing.

  • Recurring respiratory infection.

  • Signs of liver disease:

  • Abdominal pain.

  • Jaundice.

  • Swelling of the ankles or abdomen.

DIAGNOSIS

  • AAT deficiency is diagnosed by a blood test.

  • Your caregiver may order other tests such as:

  • Chest x-ray.

  • Chest CT scan.

  • Lung function test.

  • Liver function test.

  • Genetic testing.

TREATMENT

AAT deficiency can be treated but not cured.

  • Replacement alpha-1 protein can help treat this deficiency.

  • Do not smoke. If you smoke and have this deficiency, it can lead to lung problems such as:

  • Chronic Obstructive Pulmonary Disease (COPD).

  • Emphysema.

  • Genetic counseling for affected families is recommended.

  • If you have emphysema, treatment may include:

  • Use of inhalers.

  • Oxygen. You may need to use home oxygen.

  • Use of steroids. These can help decrease inflammation in your lungs.

  • Get Hepatitis A and B vaccinations.

  • Do not drink alcohol.

  • Eat a healthy, well balanced diet that includes lots of fresh fruits and vegetables.

  • Organ transplantation may be considered for people with severe lung or liver disease.