Consumer Information

Alpha-1-antitrypsin Deficiency In Children

WHAT YOU SHOULD KNOW:

Alpha-1 antitrypsin deficiency is also called AATD. It is a condition where your child does not have enough healthy alpha-1 antitrypsin (AAT) in his blood. AAT is a protein made by the liver that blocks damaging effects of certain enzymes (chemicals) in the body. These enzymes help fight infection and get rid of harmful body chemicals. Without enough AAT, these enzymes work uncontrolled, and may harm healthy body tissues. AATD is a condition your child is born with that is caused by abnormal genes for AAT. Genes are little pieces of information that tell the body what to do or what to make. In AATD, your child may have little or no healthy AAT, or has abnormal AAT in his body.
Your child may have yellowing of his skin or the whites of his eyes, itching, or abdominal (belly) pain. He may pass dark urine, have pale stools, or throw up blood. Your child may not gain weight and grow as fast as other children his age. Different blood tests may be done to check the level and type of AAT in your child's blood. Genetic testing, a procedure that looks for the abnormal gene for AATD, may be done. Your child may also have other tests to check how well his body is working. Treatment may include a special diet to help your child grow, and surgery to replace his damaged liver. With treatment and care, your child's symptoms may be relieved and he may grow up healthy.

CARE AGREEMENT:

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

RISKS:

During a liver transplant, your child may get an infection or bleed too much. The healthy liver put inside him may not work right away. There is a chance your child's new liver will not work at all. With a liver transplant, your child's symptoms may take some time to decrease or go away.
If AATD is not treated, your child's liver and lungs may continue to be damaged as he grows up. He may not gain weight or grow as fast as other children his age. Tumors and scars may appear on your child's liver and cause it to become hard and stop working. His eyes and skin may turn yellow, and he may bleed and bruise easily. Your child's kidneys may also be damaged and stop working. He may have trouble breathing and get tired easily. When his lungs have too much damage, they may fail to function and he may die. Ask your caregiver if you have questions or concerns about your child's 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 tiny tube placed in your child's vein for giving medicine or liquids. This tube is capped or connected to tubing and liquid.

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

Medicines:

Diuretics: This medicine may be given to help your child's body and lungs get rid of extra fluid. This can help your child breathe easier. Diuretics may make your child urinate more often.

Tests:

Blood tests: Your child may need blood taken for tests. The blood may be taken from your child's arm, hand, finger, foot, heel, or IV. Blood tests can give caregivers more information about your child's health condition. Your child may need to have blood drawn more than once.
CT scan: This is also called a CAT scan. A special x-ray machine uses a computer to take pictures of your child's abdomen. It may be used to look at your liver and blood vessels. Your child may be given dye by mouth or in an IV before the pictures are taken. The dye may help your child's caregiver see the pictures better. People who are allergic to iodine or shellfish (lobster, crab, or shrimp) may be allergic to some dyes. Tell the caregiver if your child is allergic to shellfish, or has other allergies or medical conditions.
Liver biopsy: Using an ultrasound as a guide, caregivers put a needle through your child's skin and into his liver. Tissue samples may be taken and sent to a lab for tests. These samples may also tell caregivers how damaged your child's liver is.
Ultrasound: This test uses sound waves to show pictures of your child's organs and tissues on a screen. Ultrasound may be done to looks inside of your child's abdomen.

Treatment options:

Special diet: A diet high in calories and extra vitamins may be ordered for your child. This will help him gain weight and get proper nutrition. This may also help give him energy and strength. Ask your child's caregiver if he needs to be on a special diet.
Surgery: This may be done to fix organs damaged by AATD. If your child's liver gets badly damaged, he may need a liver transplant. This is surgery to replace your child's damaged liver with a healthy one.

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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