Symptoms associated with alpha-1 antitrypsin deficiency (AATD) impact the lungs, as well as the liver in some cases. People with this inherited genetic condition typically first experience symptoms between the ages of 20 and 50, but AATD can also cause health issues in the very young, sometimes even in infancy.
When compared to progressive lung and liver disorders, the early onset of symptoms linked to AATD is the biggest difference. However, the symptoms themselves can be quite similar, which can make it difficult to get a proper diagnosis.
Respiratory symptoms associated with AATD often have health effects similar to chronic obstructive pulmonary disease (COPD), including:
The majority of people with COPD first experience symptoms after the age of 50. Accordingly, experiencing these symptoms at a younger age could indicate AATD, especially if other people in your family have the condition.
Not everyone with AATD experiences liver problems, as it is estimated that these effects only impact 10% to 15% of those with this genetic condition. When liver symptoms do occur, they often include the following:
Complications affecting the lungs and liver can be life-threatening, so it is crucial to have these symptoms assessed by a physician as soon as possible.
Blood tests can accurately diagnose AATD. However, you may also need other tests to determine the level of damage caused by the inherited disorder. Liver ultrasounds, pulmonary function tests, and diagnostic imaging can all be helpful for getting an accurate diagnosis.