Alpha-1 antitrypsin deficiency (AAT) is a condition that results in an inability to produce the Alpha-1 antitrypsin protein. A lack of this protein can lead to lung and liver disease. AAT is an inherited disorder, meaning it is passed down from parents to their children.
The severity of AAT varies from person to person, and some people may not experience any symptoms at all. Those who do experience symptoms may experience problems with the lungs, such as difficulty breathing, or with the liver, such as jaundice. There is no cure for AAT, but there are treatments available that can help reduce the risk of developing lung or liver disease. Early diagnosis and treatment is important
AAT is a rare inherited condition
AAT is a protein. It controls an enzyme called elastase. White blood cells produce elastase to fight infection
This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry
Both parents must have at least one copy of the abnormal alpha-1 antitrypsin deficiency gene in order for their child to inherit the disease
There is currently no cure for AAT. However, treatment is based on a person’s symptoms. The major goal of AAT management is preventing or slowing the progression of lung disease. Treatment for AAT depends on the individual’s symptoms and may include medications, supplements, and lifestyle changes. If you or someone you know has AAT, it is important to be aware of the warning signs of liver disease and seek early medical attention if they occur. Smokers with AAT deficiency tend to develop the disease 10 or more years earlier than non-smokers, so it is especially important for them to get regular check-ups. Treatment for AAT can help improve quality of life and prolong lifespan.
AAT can cause liver disease, including cirrhosis and liver cancer. AAT is also associated with other diseases, such as emphysema and bronchitis. Symptoms of AAT can include shortness of breath, excessive cough with phlegm, wheezing, decrease in exercise capacity, a persistent low energy state or tiredness, or chest pain that increases when breathing in. AAT is diagnosed with a blood test.
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