What is Alpha-1 antitrypsin (A1AT) deficiency ?
Alpha-1 antitrypsin (A1AT) deficiency is a condition in which the body is incapable of making a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease.
About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver.
Lung disease does not usually present until people are in their 30s and 40s. Smokers tend to develop symptoms around 10 years earlier than non-smokers.
Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy.
At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.
• Chronic cough
• Liver failure