Consumer Information

Alpha-1-antitrypsin Deficiency In Children

GENERAL INFORMATION:

What is alpha-1 antitrypsin deficiency? 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 special protein made by your child's liver to protect his body. The liver is an organ in your child's abdomen (belly) that makes chemicals for important body functions. AAT blocks certain enzymes (chemicals) in the body that may cause harm. Without enough AAT, these enzymes may work in an uncontrolled way and harm healthy tissues.

What causes alpha-1 antitrypsin deficiency? AATD is a condition that your child is 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 child's liver. Both events may cause only small amounts of AAT to be released in your child's blood.
Faulty AAT: Your child's liver may make AAT that does not work as it should.
No AAT: Your child's liver is not able to make any AAT.

What are the chances that my child will have alpha-1 antitrypsin deficiency? AATD is a condition that may be passed down from parent to child. Normally, your child has two copies of the gene for AAT (one gene copy from each parent). Your child may have AATD if both copies of the gene are abnormal. If both parents have an abnormal AAT gene, your child has a 25 percent chance of having AATD. His risk increases if one parent has AATD and the other has an abnormal gene.

What are the signs and symptoms of alpha-1 antitrypsin deficiency? Your child may have any of the following:

Abdominal (belly) swelling or pain.
Bruising easily.
Dark urine, or light colored stools.
Itching all over his body.
Not gaining weight and growing as fast as other children his age.
Vomiting (throwing up) blood, or passing bloody or black stools.
Yellowing of his skin or the whites of his eyes.

What medical problems may happen when my child has alpha-1 antitrypsin deficiency?

Liver problems: Liver problems may happen when the abnormal AAT become trapped inside your child's liver. AATD liver problems may be present in newborns or happen later in childhood. Liver problems may worsen, or improve as your child grows. Damage to the liver may lead to cirrhosis, liver disease, or cancer. Infections, such as hepatitis, or drinking alcohol may increase your child's risk for liver problems.
Lung disease: Lung disease from AATD is less common in children. With AATD, enzymes in the lungs are not well controlled and may cause damage to the lung tissues. This may lead to serious lung diseases, such as emphysema or chronic obstructive pulmonary disease (COPD). Smoking cigarettes, or breathing in smoke or chemical fumes may worsen the damage.
Other problems: The kidneys, skin, and blood vessels may also be harmed by AATD. This includes panniculitis, which is swelling and lumps under your child's skin. Vasculitis may also occur which causes pain and swelling of your child's blood vessels.

How is alpha-1 antitrypsin deficiency diagnosed? Your child may have any of the following tests:

Blood tests: Blood tests can show if your child has decreased levels of AAT. 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.
Genetic testing: This test looks for damaged genes that cause AATD. Your child's blood or spit may be used as a sample for the test. A sample of fluid or tissue from the womb may be used to check an unborn baby. This test may also be done right after birth. Other family members and relatives may also be tested.
Ultrasound: This test uses sound waves to show pictures of your child's organs and tissues on a TV-like screen. An ultrasound may be done to look inside your child's abdomen.

How is alpha-1 antitrypsin deficiency treated? There is no cure for AATD. Treatment depends on your child's health condition and which organs are damaged. He may need treatments to help prevent other medical problems. He may need treatment to help his body take in food and nutrients such as vitamins. Your child may need to visit his caregiver often for tests and treatments. Your child may need any of the following:

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.
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.

How can I help my child with alpha-1 antitrypsin deficiency? You can do the following to help your child cope with his condition and prevent other problems:

Medical follow-up: Always take your child to his regular medical appointments. Taking your child to his caregiver often will help keep him healthy. There are many medical problems your child with AATD could get at any time. Regular visits and tests will help caregivers know if your child has any problems that need treatment.
Have your child vaccinated: Take your child to his caregiver for vaccinations (shots) to help protect his health. These may include hepatitis A and B shots.
Keep your child away from harmful fumes: Chemical fumes and tobacco smoke may damage, or worsen damage to your child's lungs. If anyone in your family smokes tobacco, ask them to stop or keep it away from your child. Talk to your child about the dangers of smoking. Your child may need to avoid future jobs that expose him to smoke or harmful chemicals.

When should I call my child's caregiver? Call your child's caregiver if:

You have problems feeding your child and you feel he is not getting enough to eat.
You feel that your child is not gaining weight or growing as fast as other children his age.
Your child's body itches all over.
Your child's jaundice (yellowing of his skin and eyes) does not go away.
You or your child has questions or concerns about his condition, medicines, or care.

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

Your child has trouble breathing.
Your child has pain in his abdomen that does not go away.
Your child throws up blood, or passes black or bloody stools.

Where can I find support and more information? Having AATD may be hard for your child. You, your child, and those close to him may feel confused, afraid, or helpless. As a parent, you may blame yourself and feel guilty. These are normal feelings. Talk to your child's caregivers, family, or friends about your feelings. Contact the following:

Alpha one foundation
2937 SW 27th Avenue, Suite 302
Miami, FL 33133
Phone: 1-305-
Phone: 1-877-
Web Address: http://www.alphaone.org/

National Heart, Lung and Blood Institute
Health Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Phone: 1-301-592-8573
Web Address: http://www.nhlbi.nih.gov/health/infoctr/index.htm

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.

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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