Alpha 1 Antitrypsin Deficiency

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What is Alpha 1 Antitrypsin Deficiency?

Alpha-1 antitrypsin or AAT is s protein produced by the liver. It helps to protect the lungs from inflammatory substances like smoke, dust, and air pollutants. If the liver doesn't produce enough AAT, the lungs will be more easily damaged by substances in the environment. This can lead to a condition called Chronic Obstructive Pulmonary Disease.

What causes AAT Deficiency?

Alpha 1 Antitrypsin deficiency is a genetic disorder caused by a mutation in the gene that carries the instructions for AAT production. People can inherit the disorder if one or both of their parents have the gene mutation. Children of parents who both have the faulty AAT gene are more likely to develop serious health complications by middle age.

What are the symptoms of Alpha 1 Antitrypsin (AAT) Deficiency?

Signs of AAT deficiency can develop at any time but don't start to affect many people until at least middle age. Common symptoms include:

Shortness of breath
Chronic coughing
Wheezing
Reduced stamina
Fatigue
Frequent lung infections including cold or flu

AA deficiency can affect the liver causing symptoms such as tiredness, loss of appetite, weight loss, swelling in the feet or stomach, jaundice of the skin or white part of the eyes, vomiting with blood, or bloody stool.

How do you test for Alpha 1 Antitrypsin (AAT) Deficiency?

Blood testing for AAT levels can help to determine if a person is deficient. Testing is typically recommended for someone who is experiencing symptoms of low AAT levels, especially if they have a family history. While there is no cure for AAT deficiency, there are treatments that can help to reduce the risk of serious long-term illness. If you are having symptoms of AAT deficiency, don't wait. Request A Test offers an AAT blood test that anyone can order. There's no need to schedule an appointment. Just order your test and go to one of over 4,000 testing sites nationwide. We also offer hundreds of other convenient and affordable lab tests to meet your needs. Order online or call our team at 888-732-2348 to get started.

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