Alpha-1 Antitrypsin Deficiency
Medically reviewed by Drugs.com. Last updated on Dec 2, 2022.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is a condition that increases your risk for lung and liver damage. Alpha-1 antitrypsin (AAT) is made by your liver and protects your lungs and liver from infections and inflammation. Your body may not be able to make enough healthy AAT if you were born with abnormal genes that make AAT. If the AAT your liver makes is faulty, it can cause liver inflammation, damage, and may lead to liver failure. You may also develop AATD if tobacco smoke or chemical fumes decrease your AAT levels.
What are the signs and symptoms of alpha-1 antitrypsin deficiency?
- A cough that lasts for weeks or months
- Trouble breathing, or wheezing
- Frequent lung infections
- Abdominal pain or swelling in your legs
- Throwing up or coughing up blood
- Lumps under your skin or yellowing of your skin or the whites of your eyes
- Swelling of your abdomen, caused by fluid building up quickly
How is alpha-1 antitrypsin deficiency diagnosed?
Your healthcare provider will ask about your symptoms and when they started. The provider will ask about your family's medical history. You may also need one or more of the following tests:
- Blood tests: These tests measure your AAT level.
- Chest x-ray: Your healthcare provider will use the x-rays to look for swelling or damage in your lungs.
- CT scan: An x-ray machine will use a computer to take pictures of your lungs and liver. You may be given contrast liquid to help your healthcare providers see the pictures better. Tell your healthcare provider if you have ever had an allergic reaction to contrast liquid.
- Genetic screening: Healthcare providers check for abnormal genes that can cause AATD.
How is alpha-1 antitrypsin deficiency treated?
You will need to avoid harmful chemical fumes and tobacco smoke. This will help prevent any further lung damage. If you smoke and need help quitting, talk to your healthcare provider. You may need one or more of the following:
- Bronchodilators help open the air passages in your lungs so you can breathe more easily.
- Steroid medicines: Steroids decrease inflammation in your lungs.
- AAT replacement: This medicine can increase your AAT to normal levels. You may get AAT replacement medicine through an IV, or you may inhale it. This medicine may help maintain your lung function and prevent further damage.
- Organ transplant: You may need a lung or liver transplant if AAT causes too much organ damage. Talk to your healthcare provider if you have questions or concerns about an organ transplant.
The following list of medications are in some way related to or used in the treatment of this condition.
What are the risks of alpha-1 antitrypsin deficiency?
- Bronchodilators may increase your heartbeat and make you dizzy. You may gain weight if you take steroid medicines. During an organ transplant, you could get an infection or bleed too much. Your signs and symptoms may take a long time to improve.
- AATD that is not treated can make the damage to your liver and lungs worse. The amount of oxygen your lungs can take in will decrease, and you may have trouble breathing. More painful lumps may be felt under your skin. Tumors and scars may appear on your liver and cause it to stop working. Other organs such as your kidneys may be damaged. You may die if too many organs are damaged.
Where can I find more information?
- American Lung Association
1301 Pennsylvania Ave. NW
Washington , DC 20004
Phone: 1- 202 - 785-3355
Phone: 1- 800 - 548-8252
Web Address: www.lung.org
- American Liver Foundation
39 Broadway Suite 2700
New York , New York 10006
Phone: 1- 212 - 668-1000
Phone: 1- 800 - 465-4837
Web Address: http://www.liverfoundation.org
When should I contact my healthcare provider?
Contact your healthcare provider if:
- You are losing weight without trying.
- You get tired easily.
- You have a cough that brings up a lot of phlegm and lasts for weeks or months.
- You have questions or concerns about your condition or care.
When should I seek immediate care?
Seek care immediately or call 911 if:
- You vomit or cough up blood.
- You have abdominal pain and swelling.
- You have chest pain or trouble breathing.
Care AgreementYou have the right to help plan your care. Learn about your health condition and how it may be treated. Discuss treatment options with your healthcare providers to decide what care you want to receive. You always have the right to refuse treatment. The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.
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