Consumer Information

Alpha-1 Antitrypsin Deficiency

WHAT YOU SHOULD KNOW:

Alpha-1 antitrypsin deficiency is also called AATD. It is a condition where you have decreased amounts of alpha-1 antitrypsin (AAT) in your body. AAT is a special chemical that protects your lungs from being damaged by infections and harmful fumes. AATD is a condition you may have been born with that is caused by abnormal genes for AAT. In AATD, you may have little or no healthy AAT, or have abnormal AAT in your body. Smoking and exposure to chemical fumes may also decrease your AAT levels. Having decreased amounts of AAT increases your risk of lung damage, and getting lung infections often. You may also have tumors in your liver, pain in your abdomen, decreased energy, and yellowish-colored skin.
Your caregiver will ask about you and your family's health history. You may need blood tests, CT scans, pulmonary function tests, genetic testing, and x-rays. You will need to stay away from chemical fumes and tobacco smoke. Bronchodilators and steroids may be used to relieve your symptoms . Your caregiver may use AAT replacement to bring your level back to normal. Having your AATD treated may decrease your symptoms and prevent worsening lung damage.

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.

RISKS:

Medicines used to treat your AATD may cause an allergic response. Bronchodilator medicines may give you fast heartbeats 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. The healthy liver or lungs put inside you may not work well right away . Your signs and symptoms may take some time to decrease or disappear.
If you do not have your AATD treated, the damage to your liver and lungs may get 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 become hard and stop working. Your body will not function well and other organs such as your kidneys may be damaged. If too many organs are damaged, your body will stop working and you may die. Ask your caregiver if you have questions or concerns about your condition or care.

WHILE YOU ARE HERE:

Informed consent: You have the right to understand your health condition in words that you know. You should be told what tests, treatments, or procedures may be done to treat your condition. Your doctor should also tell you about the risks and benefits of each treatment. You may be asked to sign a consent form that gives caregivers permission to do certain tests, treatments, or procedures. If you are unable to give your consent, someone who has permission can sign this form for you. A consent form is a legal piece of paper that tells exactly what will be done to you. Before giving your consent, make sure all your questions have been answered so that you understand what may happen.

IV: An IV is a tube placed in your vein for giving medicine or liquids. This tube is capped or connected to tubing and liquid.

Oxygen: You may need extra oxygen to help you breathe easier. It may be given through a plastic mask over your mouth and nose. It may be given through a nasal cannula, or prongs, instead of a mask. A nasal cannula is a pair of short, thin tubes that rest just inside your nose. Tell your caregiver if your nose gets dry or if the mask or prongs bother you. Ask your caregiver before taking off your oxygen. Never smoke or let anyone else smoke in the same room while your oxygen is on. Doing so may cause a fire.

Vital signs: This includes taking your temperature, blood pressure, pulse (counting your heartbeat), and respirations (counting your breaths). To take your blood pressure, a cuff is put on your arm and tightened. The cuff is attached to a machine which gives your blood pressure reading. Caregivers may listen to your heart and lungs by using a stethoscope. Your vital signs are taken so caregivers can see how you are doing.

Medicines: You may need any 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.
Antibiotics: Antibiotics may be given to help treat or prevent an infection caused by germs called bacteria.
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.

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.
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.
Pulmonary function tests: Pulmonary function tests, also called PFTs, help caregivers learn how well your lungs work. During the tests, you will breathe into a mouthpiece connected to a machine. The machine measures how much air you breathe in and out over a certain amount of time. This helps caregivers to see how well your lungs are moving and working. Your caregiver may also use radioactive dye that is put into your vein (blood vessel). Pictures are then taken to see how well the blood flows in your lungs. You may also be asked to breathe in a special gas. Pictures will then be taken to see how well your lungs take in oxygen.

Treatment options:

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.

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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