AAT-related liver disease

Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that can cause liver problems. AAT is a protein made by the liver to protect the lungs and liver from damage. In AAT deficiency, the liver produces an abnormal form of this protein that can build up inside liver cells. Over time, this buildup can lead to liver inflammation, scarring (cirrhosis), and in severe cases, liver failure. Symptoms may include jaundice, fatigue, and abdominal swelling. The severity varies; some individuals experience liver issues early, while others remain asymptomatic. Diagnosis often involves blood tests and liver biopsies.