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Alpha-1-Antitrypsin Deficiency in Children
WHAT YOU NEED TO KNOW:
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is a condition that increases your child's risk for lung and liver damage. Alpha-1 antitrypsin (AAT) is made by your child's liver and protects his lungs and liver from infections. His body may not be able to make enough AAT if he was born with abnormal genes that make AAT. If the AAT his liver makes is faulty, it can cause liver inflammation, damage, and may lead to liver failure. He may also develop AATD if tobacco smoke or chemical fumes decrease his AAT levels.
What are the signs and symptoms of alpha-1 antitrypsin deficiency?
- Abdominal swelling or pain
- Itching all over his body
- Dark urine, or light bowel movements
- Slower weight gain and growth than other children his age
- Yellowing of his skin or the whites of his eyes
- Blood in his vomit, or bloody or black bowel movements
How is alpha-1 antitrypsin deficiency diagnosed?
- Blood tests: Blood tests measure your child's AAT level.
- Genetic testing: Healthcare providers check for abnormal genes that can cause AATD.
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 medicine or other treatments to help prevent medical problems. He may need treatment to help his body use nutrition.
- Nutrition: Ask your child's healthcare provider if you need to change the foods your child eats. He may need to eat foods that are high in calories and vitamins to get proper nutrition.
- Surgery: Your child may need surgery to repair organs damaged by AATD. If your child's liver gets badly damaged, he may need a liver transplant.
How can I help my child with alpha-1 antitrypsin deficiency?
Be proactive to help your child cope with his condition and prevent other health problems:
- Follow up with healthcare providers: Take your child to his regular medical appointments. This 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 healthcare providers know if your child has any problems that need treatment.
- Have your child vaccinated: Take your child to his healthcare provider 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 him to stop or not smoke near your child. Talk to your child about the dangers of smoking and being around harmful chemicals.
What are the risks of alpha-1 antitrypsin deficiency?
- Your child may have side effects from the treatment for AATD. Even with treatment, his symptoms may get worse. AATD may cause liver problems that can worsen as your child ages. Damage to the liver may lead to cirrhosis, liver disease, or cancer. Infections and alcohol may increase your child's risk for liver disease. During a liver transplant, your child may get an infection or bleed too much. There is a chance your child's new liver will not work at all. 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. AATD may lead to lung disease such as emphysema or other lung disease. He may die if his lungs have too much damage. His kidneys, skin, and blood vessels may also be harmed by AATD.
When should I contact my child's healthcare provider?
Contact your child's healthcare provider if:
- You have problems feeding your child and you feel he is not getting enough to eat.
- 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 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 has blood in his vomit or bowel movements.
Where can I find support and more information?
- 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 AgreementYou have the right to help plan your child's care. Learn about your child's health condition and how it may be treated. Discuss treatment options with your child's healthcare providers to decide what care you want for 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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