Alpha-1 Antitrypsin Deficiency | Pulmonology & Critical Care | Loyola Medicine

Alpha-1 Antitrypsin Deficiency

Overview and Facts about Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is a condition in which AAT, a protein that helps protect the lungs from inflammation, is produced but not released into the bloodstream. Normally, AAT is produced in the liver and is gradually released into the bloodstream, but in people with AAT deficiency, this protein builds up in the liver instead. Over time, the buildup can cause both liver disease and lung damage.

Signs and Symptoms of Alpha-1 Antitrypsin Deficiency

Symptoms of alpha-1 antitrypsin deficiency include the following:

  • Shortness of breath
  • Chronic coughing
  • Wheezing
  • Frequent lung infections
  • Jaundice
  • Abdominal swelling
  • Vomiting blood
  • Blood in the stool

Alpha-1 antitrypsin deficiency can go undiagnosed for many years. Over time, damage to the lungs and liver can worsen. In some cases, organ damage may be permanent. Fortunately, alpha-1 antitrypsin deficiency can be diagnosed through a simple laboratory test.

Causes and Risk Factors of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a genetic condition caused by a mutated gene. Most people who inherit one copy of the mutated gene don't develop alpha-1 antitrypsin deficiency, but children who inherit a copy from both parents always develop the condition.

If you have only one copy of the mutated gene, you may pass on the gene to your child. This can put your children at risk of developing alpha-1 antitrypsin deficiency.

Doctors often recommend genetic testing for anyone with a family history of lung or liver disease. A genetic counselor can help you find out whether you are a carrier for this condition.

Tests and Diagnosis of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency can be diagnosed through a blood test or mouth swab. If you are diagnosed with this condition, your doctor may recommend other laboratory tests to check for liver or lung damage.

Imaging tests like a CT scan or MRI can determine how well your organs are working. Your doctor may also order several lung-function tests. Once your doctor has detailed information about your current health, he or she can develop a treatment plan.

Treatment and Care for Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency cannot be cured, but treatment can help keep you healthy for as long as possible. If you have alpha-1 antitrypsin deficiency, you may go on to develop chronic lung conditions like COPD, but avoiding tobacco and air pollutants can help protect your lung function.

If you smoke, it's important to quit as soon as possible. Additionally, avoiding secondhand smoke is essential for protecting your lungs. You can also reduce your risk of complications through lifestyle changes. A healthy diet and regular exercise can protect your lungs.

After your diagnosis, your doctor may refer you to a physician specializing in pulmonary and critical care. A pulmonologist can recommend medications to help control your symptoms. In some cases, a lung or liver transplant may be necessary. A specialist can help you explore your options for organ transplant.