What is alpha-1 antitrypsin?
Alpha-1 antitrypsin (AAT) is a protein that is made in the liver and helps protect the lungs from damage. It does this by blocking the action of an enzyme called neutrophil elastase, which can break down lung tissue.
What happens with an alpha-1 antitrypsin deficiency?
When someone has an AAT deficiency, they do not make enough of the protein, which leaves their lungs more vulnerable to damage from neutrophil elastase. This can lead to a number of lung diseases, including emphysema, chronic obstructive pulmonary disease (COPD), and liver disease.
What signs of alpha-1 antitrypsin deficiency are there?
The signs and symptoms of AAT deficiency can vary depending on the severity of the deficiency and the age of the person. Some common signs and symptoms include:
- Shortness of breath
- Reduced exercise tolerance
- Liver disease
- Panniculitis (a skin condition characterized by painful lumps or patches)
How does the doctor diagnose an alpha-1 antitrypsin deficiency?
A doctor can diagnose AAT deficiency with a blood test that measures the amount of AAT in the blood. If the level of AAT is low, the doctor may recommend further testing, such as a genetic test, to confirm the diagnosis.
What is the treatment of an alpha-1-antitrypsin deficiency?
There is no cure for AAT deficiency, but there are treatments that can help to manage the condition and prevent complications. Some of the treatments that may be used include:
- Lung transplantation
- Replacement therapy with AAT
- Medications to treat lung disease
- Lifestyle changes, such as quitting smoking and avoiding exposure to dust and other pollutants
The treatment plan for AAT deficiency will vary depending on the individual's symptoms, severity of the deficiency, and other health conditions.
I hope this helps! Let me know if you have any other questions.