Alpha-1 Antitrypsin deficiency (AAT deficiency) is an inherited condition that may cause lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that is made in the liver and protects the lungs. If the AAT proteins aren't the right shape, they get stuck in the liver cells and are unable to reach the lungs.

Some people have AAT Deficiency no symptoms at all and do not develop additional complications. Performing simple blood tests and looking at genetic tests can determine if you have Alpha-1 Antitrypsin deficiency. If tests indicate that your lungs are affected, your doctor may also want to have additional testing done.

Signs & Symptoms

  • Shortness of breath and wheezing
  • Repeated lung infections
  • Tiredness
  • Rapid heartbeat upon standing
  • Vision problems
  • Weight loss
  • Treatments

    Treatments include replacement therapy infusions to replace the protein you are lacking. Also, other medications, pulmonary rehabilitation, and extra oxygen may be needed. Severe cases may require a lung transplant. Not smoking may prevent or delay lung symptoms.

    Referral Line: 866.365.2525

    Diagnosed with AAT deficiency & need assistance or support with getting tested? Premier is here to help.