Alpha-1 antitrypsin deficiency is an inherited genetic disease in which tissue in the liver or lungs may become damaged, which prevents them from working properly. The first symptoms of alpha-1 antitrypsin deficiency usually occur between the ages of 20 and 50, but some infants or children may be affected with the disease as well. About one in 3,000 to 5,000 people are affected with alpha-1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency results from a genetic mutation that causes the body to make reduced levels or an abnormal form of a protein called alpha-1 antitrypsin. Alpha-1 antitrypsin normally protects the body from a powerful enzyme made by white blood cells. In patients with alpha-1 antitrypsin deficiency, this enzyme is not properly controlled, and it can damage the lungs.
Individuals with alpha-1 antitrypsin deficiency usually experience respiratory symptoms, including shortness of breath following mild activity, reduced ability to exercise, wheezing, coughing, recurring respiratory infections, fatigue, and rapid heartbeat upon standing. Eventually, patients may develop emphysema, a condition in which the small air sacs in the lungs (called alveoli) become damaged. Patients with emphysema experience difficulty breathing, a hacking cough, and may develop a barrel shaped chest. The respiratory symptoms patients develop result from tissue damage in the lungs.
Some patients with alpha-1 antitrypsin deficiency may develop liver disease and experience symptoms such as a swollen abdomen, swollen feet or legs, and yellowing of the skin and whites of the eyes.
Currently there is no known way to prevent alpha-1 antitrypsin deficiency. Patients with alpha-1 antitrypsin deficiency may have reduced life expectancies, depending on the severity of the symptoms.
AAT, AAT deficiency, AATD, alpha-1 antitrypsin, alpha-1 related emphysema, emphysema, inherited emphysema, liver disease, lung disease, neutrophil elastase, respiratory defects.