Alpha-1 Antitrypsin Deficiency

GENERAL INFORMATION:

What is alpha-1 antitrypsin deficiency?

• Alpha-1 antitrypsin deficiency is also known as AATD. It is a condition where you have decreased amounts of alpha-1 antitrypsin (AAT) in your body. AAT is a chemical that protects your lungs from being damaged by infections and harmful fumes. Most of your AAT is made by your liver, and some by your lungs. Your lungs are organs in your chest which take in oxygen from the air you breathe. Your body uses oxygen for certain body functions and for making energy. The liver is an organ in your abdomen (stomach) which makes chemicals for important body functions. AAT passes easily through tissues in your liver and mixes with your blood. The AAT then moves through your body and gets used by lung tissues.
  
  
• Having decreased amounts of AAT increases your risk for lung damage. Having your AATD treated may relieve some of your symptoms. Treatment may help bring your level of AAT back to normal. Having normal levels of AAT may protect your lungs from more damage. This may help prevent more serious breathing problems from happening.

What causes alpha-1 antitrypsin deficiency? Smoking tobacco and breathing in chemical fumes may decrease the amount of AAT in your body causing AATD. AATD is a condition that you may have been born with. It is caused by abnormal genes that makes AAT. Genes are little pieces of information that tell the body what to do or what to make. AATD may occur with any of the following:

• Abnormal AAT: The liver may break down abnormal AAT as it is made. The abnormal AAT may also clump together inside your liver. Both events may cause only small amounts of AAT to be released in your blood.
  
  
• Faulty AAT: Your liver may make AAT that does not work as it should.
  
  
• No AAT: Your liver is not able to make any AAT.

What are the signs and symptoms of alpha-1 antitrypsin deficiency? You may have one or more of the following:

• Lung problems:
  
  
  • A cough that brings up a lot of phlegm (mucus) and lasts for weeks or months.
    
    
  • Getting tired very easily.
    
    
  • Increased chest size caused by too much air trapped inside.
    
    
  • Swelling inside your lungs, and having lung infections often.
    
    
  • Trouble breathing.
    
    
  • Trouble doing certain physical activities, such as exercise or chores.
    
    
  • Wheezing (a whistling sound when you breathe).
  
  
• Liver problems:
  
  
  • Pain in your abdomen.
    
    
  • Swelling of your abdomen, caused by fluid building up quickly.
    
    
  • Swelling of your legs.
    
    
  • Throwing up or coughing up blood.
    
    
  • Yellowish-colored skin or whites of the eyes.
  
  
• Other problems:
  
  
  • Kidney problems.
    
    
  • Panniculitis, which is a skin problem causing swelling and lumps under your skin.
    
    
  • Vasculitis, which is pain and swelling of your blood vessels.

How is alpha-1 antitrypsin deficiency diagnosed? Your caregiver will ask about you and your family's health history. He will ask what symptoms you have and how bad they get. You may also need one or more of the following tests:

• Blood tests: You may need blood taken for tests. These tests show how much AAT you have in your blood. Blood can be taken from a blood vessel in your hand, arm, or the bend in your elbow. It can give your caregivers more information about your health condition. You may need to have blood drawn more than once.
  
  
• Chest x-ray: This is a picture of your lungs. This will help your caregiver look for swelling or damage in your lung tissue.
  
  
• Computerized tomography scan: This test is also called a CT scan. It is a special x-ray machine with a computer that takes pictures of your lungs and liver. You may be given dye by mouth or through an IV before the pictures are taken. The dye helps your caregivers see the pictures better. People who have allergies to shellfish (lobster, crab, or shrimp) may be allergic to some dyes. Tell your caregiver if you are allergic to shellfish or have any allergies or medical conditions.
  
  
• Genetic testing: This test lets caregivers checks for abnormal genes that can cause AATD. A gene is a little piece of information that tells your body what to do or what to make. Your caregiver may swab the inside of your cheek with cotton, or use your blood for this test. These samples are sent to a lab to check for the abnormal genes. Other family members may also need to be tested.
  
  
• Liver biopsy: Your caregiver may take a sample of your liver using a long thin needle. This sample will be sent to a lab for tests. The tests will help your caregiver learn how much damage your liver has.
  
  
• Liver ultrasound: This test looks inside of your body to check the size and condition of your liver. Sound waves are used to look at pictures of your liver on a TV-like screen.

How is alpha-1 antitrypsin deficiency treated? You will need to stay away from harmful chemical fumes and tobacco smoke. This will help prevent any further lung damage. If you smoke and need help quitting, talk to your caregiver. You may need one or more of the following:

• AAT replacement: You are given AAT to increase and bring back the normal amount of AAT in your body. This is normally given IV or may be inhaled (breathed in). This may help maintain your lung function and prevent further damage.
  
  
• Bronchodilators: You may need bronchodilators to help open the air passages in your lungs, and help you breathe more easily.
  
  
• Steroids: Steroid medicine may be given to decrease inflammation, which is redness, pain, and swelling.
  
  
• Organ transplant: This surgery is done to replace your damaged lungs or liver with healthy ones. The healthy lung or liver comes from a person who has agreed to donate their organs. Talk to your caregiver if you have questions or concerns about an organ transplant.

When should I call my caregiver? Call your caregiver 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, medicines, or care.

When should I seek immediate help? Seek care immediately or call 911 if:

• You are throwing up or coughing out blood.
  
  
• You have abdominal pain and it is swollen.
  
  
• You have chest pain or trouble breathing.

Where can I find more information? Having AATD can be life changing for you and your family. Talk to your caregiver, family, or friends about your feelings. Contact any of the following:

• American Liver Foundation
  75 Maiden Lane Suite 603
  New York, New York 10038
  Phone: 1-212-668-1000
  Phone: 1-800-465-4837
  Web Address: http://www.liverfoundation.org
  

• American Lung Association
  61 Broadway, 6th floor
  New York City, NY 10006
  Phone: 1-800-586-4872
  Web Address: http://www.lungusa.org
  

CARE AGREEMENT:

You have the right to help plan your care. To help with this plan, you must learn about your health condition and how it may be treated. You can then discuss treatment options with your caregivers. Work with them to decide what care may be used to treat you. You always have the right to refuse treatment.

Copyright © 2008 Thomson Healthcare Inc. All rights reserved. Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.

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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